Promo Code Genetic Diagnostics Code › ..... mutation description Page 1 V71.2_December2017 › The Terms & Conditions of CENTOGENE AG, which are available on apply to your order

Gen

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sM M D D Y Y Y Y

M M D D Y Y Y Y

› B. Patient Name (Label)1. Surname

2. First Name

3. Date of Birth

4. Sex 4.1 Male 4.2 Female

5. Street

6. Zip Code / Town

7. Country

8. Your Reference Number

9. Sample Date

› C. Sender (Reporting Address)1. Name of Physician

2. Clinic

3. Department

4. Street

5. Zip Code / Town

6. Country

7. Telephone 8. Fax

9. E-Mail

› E. Billing1. CENTOGENE Quotation No.

2. Invoice to 2.1 Patient 2.2 Clinic/Insurance Please attach authorization/referral

3. Name

4. Department

5. Street

6. ZIP Code / Town

7. Country

8. VAT No.

9. Telephone 10. Fax

11. E-Mail

› D. Second Reporting Address (if applicable)

1. Name of Physician

2. Clinic

3. Department

4. Street

5. Zip Code / Town

6. Country

7. Telephone 8. Fax

9. E-Mail

Genetic Diagnostics› A. Analysis Requested1. Test(s)/Gene(s)

1.1 Single Gene Sequencing 1.2 NGS Panel 1.3 NGS Panel Plus 1.4 NGS Panel Genomic 1.5 Deletion/Duplication Analysis

1.6 Repeat Expansion 1.7 Hotspot Testing 1.8 Carrier Testing

2. Specific Request: 2.1 Prenatal Diagnosis (additional fee applies) (please contact us prior sample shipment) *Prenatal testing is currently not offered in the US.

2.2.1 CentoArrayCyto® HD 2.2.2 CentoArrayCyto® 750K

(if applicable)Promo Code ›

..........................................................................................................................................................mutation description

Page 1V71.2_December2017

› The Terms & Conditions of CENTOGENE AG, which are available on www.centogene.com apply to your order.

Your specific order will be invoiced at the specific prices as listed on www.centogene.com at the time of receipt of your order.

› To add clinical or additional information please use page 5› We need mandatorily the following pages from you: 1-5› All offered testing results are supported by CentoMD®

› In Case of Direct Billing to the PatientI authorize the physician to request this analysis/these analyses and I am informed about the resulting costs (and possibly applicable German 19% VAT). I herewith undertake to be liable for the payment of any invoice related to this diagnostics and I declare that the address given above is the correct billing address.

Place, Date

Signature of Patient/Guardian ✘

› Material RequirementsEDTA Blood (2 ml single gene / 10 ml for panels) Filtercards (1 pc. [10 spots], more filtercards for complex genes)Filtercards are available on request from CENTOGENE.Purified DNA (1-10 µg single gene / 10-100 µg for panels)Tissue (FFPE 25-50 mg)Amniotic Fluid (10 ml)

CVS / Chorionic Villus (10 villi, cleaned)Fibroblast / Skin Biopsy (0.5 cm2)Snap Frozen Affected Tissue (~50mg)Saliva (Oragene OG-510) Kits are available on request from CENTOGENE.

Other:For detailed material requirements, please refer to page 17.

› I herewith confirm the correctness of the above given information.

Place, Date

Signature of Physician✘

Please note that all diagnostic reports are exclusively available via our online CentoPortal® www.centoportal.com. Additional report recipient(s) can be conveniently added for individual requests via the portal.

CLIA #99D2049715ACCREDITED

V71.2_December2017Page 2

Info

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Dear patient,

Your physician has recommended for you (or a person for whom you have custody and you care for) a genetic analysis to clarify the following diagnosis/symptoms:

(to be completed by physician)

We would like to explain the purpose of these analyses, what occurs with a genetic test and the importance the results could have for you and your family. For more specific information on the genetic test, please refer to the requisition form.

The purpose of a genetic test is to study your genetic material (DNA) using a molecular-genetic method that has the capability to detect the disease that has occurred or is suspected in you or your family based on changes (called mutations).

In a genetic analysis – depending on the case –

• either individual genetic characteristics for a specific condition or

• many genetic characteristics are investigated at the same time using an overview method (e.g. using exome or genome sequencing).

The study material that is used for your genetic test is stated in the requisition form and is typically blood.

Significance of the results: If a characteristic result in a disease is demonstrated, this result is usually highly conclusive. If no disease-causing mutation is found, genetic changes responsible for the disease may still exist. A genetic disease or tendency to have a disease can therefore not usually be fully excluded.

Sometimes gene variants are proven but their significance is not clear. This is stated in the results and discussed with you. A comprehensive explanation of all possible causes of diseases due to genetic reasons is not possible.

It is also not possible to exclude every disease risk for yourself and your family members (especially your children) utilizing genetic analyses. The knowledge of the results may result in mental stress. It is always recommended to discuss the details of the genetic report with your local doctor.

Incidental findings: In principle, results can occur for all testing techniques that are not directly related to the actual issue but may still be of medical importance for you and your family (so-called incidental findings). In particular for the overview methods such as genome sequencing, incidental results can occur that relate to higher risks (that you may not be aware of ) for potentially serious, unavoidable or non-treatable diseases. As part of the consent you can decide whether and under what circumstances you wish to be informed about such incidental findings.

Family findings: If several family members are tested, a correct interpretation of the results depends on the assumed relationships being correct. If doubt is created by the genetic analysis about the apparent relationships, we will not inform you. An exception will be made if it is absolutely necessary for the completion of the requested test.

Use of the sample/results: The sample and the test results will be used for the analysis and in accordance with your consent declaration that is stated below. The test results will also be used - if possible - for treatment decisions by your physician(s).

Right of revocation: You can withdraw your consent to the analysis/examination with effect for the future at any time in full or in part without stating reasons.

Right not to know: You have the right not to be informed about test results (right not to know), to stop the testing processes that have been started at any time up to being given the results and to request the destruction of all test/examination results not already known to you.

› Consent form for conducting genetic analyses

It is mandatory to ensure that a patient has signed his or her consent to conduct genetic analyses.

This can be given either by:

Part (I): Signed consent on the part of the patient ORPart (II): Signed confirmation on the part of the physician stating that the signed patient consent exists in the files

CENTOGENE needs either Part (I) OR (II) in order to be legally able to conduct genetic analysis.

Please ensure that the applicable document accompanies the sample(s).

V6.1eng_Information_November2017 Page 1


– if these members have consented –, and the results of the genetic analysis and examination, as well as the remaining samples (including original and processed samples; together the “remaining samples”) for a period of at least 20 years. The retention of these results and of my remaining samples may be useful for advising/testing me and my family members with regard to the above specified disease, for the verification/checking of results, for requests, for quality assurance, for the tracking of latest scientific findings related to the results, to improve the diagnostics and treatment of genetic diseases and for internal and external research in the field of genetic diseases and of biological mechanisms that may lead to diseases.

Part (I): Declaration of consent (please read this carefully)

By signing this declaration of consent I acknowledge that

• I have received, read and understood the preceding written explanation of genetic analyses and the further explanation contained in the requisition form;

• I have received appropriate explanations (from my physician) with regard to the disease:

(to be filled in by the physician)

the genetic basis, the purpose, scope, type and significance of the planned genetic test(s), achievable results by the planned test, the importance of the analyzed genetic characteristics for my disease/health disturbance, possibilities of prevention/treatment of a disease or a health disturbance as well as with regard to risks associated with (1) the generation of the sample required for the genetic testing and (2) the knowledge of the results of the genetic testing. All my questions have been answered and I have had the necessary consideration time.

With my signature at the end of this declaration I give my consent (1) to the genetic analysis by CENTOGENE AG, Am Strande 7, 18055 Rostock, Germany, (CENTOGENE) for the subject stated above and which is described in more detail in the preceding written explanation of genetic analysis and in the requisition form, (2) to the collection, processing and use by my physician and CENTOGENE of my personal data (that may also refer to my health) required to conduct that analysis and to transfer my personal data between physician and CENTOGENE electronically across country borders, (3) to the generation of the necessary sample as specified by my physician and above, (4) to the storage and use of the sample for as long as it is required to verify/check the results, (5) to add to my record and use for the above purposes – if applicable – personal data on members of my family – if these members have consented, (6) to inform me or my physician or – if CENTOGENE has been instructed by a laboratory acting on behalf of my physician – this laboratory about the results of the genetic analysis and (7) to provide upon my separate request to me, my physician or – as the case may be – the instructing laboratory the raw data of the genetic analysis. I also release CENTOGENE and its employees from their secrecy obligation as a physician or healthcare professional vis-à-vis service and external data storage providers that administer and maintain systems, databases and software of CENTOGENE or provide external data storage to CENTOGENE.

I am aware that I can revoke my consent in full or in part at any time with effect for the future without stating reasons and that I have the right not to know as described in the preceding written explanation.

By ticking the relevant “YES” boxes below, I consent to the following activities:

Patient Copy

Place, Date

Name of Patient/ Signature of Patient/Guardian Guardian ✘

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Further storage and use of personal data, results and samples

CENTOGENE stores and uses my personal data stated in the requisition form and/or provided by my physician (e.g. name, birthday, address, description and symptoms of the disease), the personal data on members of my family (e.g. names and the symptoms of the disease)

Incidental Findings

As the whole exome sequencing and the whole genome sequencing tests are analyzing numerous different genes, there is a possibility for the recognition of incidental findings that are not necessarily related to the reason for ordering whole exome sequencing/whole genome sequencing. These findings can provide information that was not anticipated and that are unrelated to your reported clinical features, but can be of medical value for patient care. I agree, that CENTOGENE generally reports mutations of the specified classes or types in the genes in accordance with the “ACMG Recommendations for Reporting of Incidental Findings”. However, I agree, that CENTOGENE may in its sole discretion also report (other) incidental findings in other cases or refrain from reporting incidental findings although this is recommended as per the said recommendations.

Storage and use of personal data and samples for research and other purposes as well as to facilitate and improve the diagnosis

My test results and remaining samples can help to promote research and improve the diagnosis and treatment of genetic diseases. CENTOGENE, for example, may use the results and remaining samples for research purposes (e.g. to detect and develop biomarkers) as well as to facilitate and improve the diagnosis of genetic changes and diseases (also) for other patients.

CENTOGENE also operates a database in which a huge number of results of genetic tests that were rendered anonymous or pseudonymous are stored. CENTOGENE may also provide access to this database to external physicians, scientists, researchers and (pharmaceutical) companies for research purposes, as well as to facilitate and improve the diagnosis of genetic changes and diseases (also) in other patients. The test results contained in the database are anonymous for the physicians, scientists, researchers and companies. Anonymized test results in CENTOGENE’s database cannot be destroyed as they become unidentifiable and untraceable after their input into CENTOGENE’s database.

yes no

yes no

yes no


Please send the samples together with a completed request form to:

CENTOGENE AG Am Strande 718055 RostockGermany

Part (II): Confirmation of patient consent by physician

Name of patient:

DOB: M M D D Y Y Y YPatient-ID:(please provide always at least two identifiers, e.g. name of patient and date of birth)

Examination target:

CENTOGENE AG, Am Strande 7, 18055 Rostock, Germany (CENTOGENE), is subject to German legislation which requires a specified patient consent form to be signed by the patient for conducting genetic analyses. Under the specific circumstances of the institution the undersigned is working for, patients declare an individual consent according to local requirements in the local language.

We/I hereby confirm that the following requirements are met with respect to the consent that has been declared by the patient or (as the case may be) his/her legal representative:

• The patient has been duly informed – with regard to the specific case – about the purpose, scope, type and significance of the planned genetic test(s), achievable results by the planned test, the limitations of the test, the importance of the analyzed genetic characteristics for his/her disease/health disturbance, possibilities of prevention/treatment of a disease or a health disturbance, the planned use of the sample (including processed samples) and of the test results as well as with regard to risks associated with (1) the generation of the sample required for the genetic testing and (2) the knowledge of the results of the genetic testing.

• The patient was informed that the test will cover all disorders indicated on the requisition form, and we/I will ensure that the test results will be interpreted to the patient in an appropriate manner, and that the patient will not receive the results without accompanying counseling.

• The patient was informed that she/he has the right (1) to revoke his/her consent at any time with effect for the future and (2) not to be informed about test results (right not to know), (3) to stop the testing processes that have been started at any time up to being given the results and (4) to request the destruction of all test/examination results not already known to him/her.

We/I confirm that the patient is legally capable of providing this consent (respectively that the consent was given by an authorized representative), that all questions of the patient have been answered, that the patient had the necessary consideration time and that the patient has not exercised his right not to know.

We/I confirm that the patient has consented to (1) to the genetic analysis by CENTOGENE for the subject stated above and which is described in more detail in the preceding written explanation of genetic analysis and in the requisition form, (2) the collection, processing and use of his/her personal (health) data by CENTOGENE required to conduct the analysis and to transfer his/her personal data between physician and CENTOGENE electronically across country borders, (3) the generation of the sample, (4) to the storage and use of the sample for as long as it is required to verify/check the results, (5) adding to his/her record and using for the above purposes personal data on members of his/her family – if these members have consented – , (6) inform him/her or me or – in case CENTOGENE has been instructed by a laboratory acting on my behalf – this laboratory about the results of the genetic analysis and (7) to provide upon his/her separate request to him, me or – as the case may be – the instructing laboratory the raw data of the genetic analysis.

Place, Date

Name of Physician Signature of Physician ✘

We/I confirm that the patient has released CENTOGENE and its employees from their secrecy obligations as physician or healthcare professional vis-à-vis service and external data storage providers that administer and maintain databases and software of CENTOGENE or provide external data storage to CENTOGENE.

Furthermore, we/I confirm that:

Physician Copy

We/I confirm that we/I have the patient’s signature on file for all of the issues mentioned above and that we/I are aware that the patient can request us to have his/her results eliminated if they are not already known to him/her at any time and that we/I shall convey this request to CENTOGENE.We/I confirm that we/I will retain the consent form signed by the patient for an unlimited period of time and that we will provide CENTOGENE with this form upon first request.

› Contact DetailsCustomer ServiceTel.: +49 (0)381 80 113 - 416Fax: +49 (0)381 80 113 - 401

[email protected]

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The patient agrees that CENTOGENE stores and uses (1) his/her personal data stated in the requisition form and/or provided by me/us, personal data on his/her family – if his/her family members have consented – the results of the genetic analysis as well as the remaining samples for a period of at least 20 years for the purposes of advising/testing his/her family members with regard to the disease specified in the consent, for the verification/checking of results, for requests, for quality assurance, for the tracking of latest scientific findings related to the results, to improve the diagnostics and treatment of genetic diseases and for internal and external research in the field of genetic diseases and of biological mechanisms that may lead to diseases and (2) his/her personal data, the results of the genetic analysis as well as the remaining samples for any later examinations of him/her.

The patient agrees that he/she wants to be informed about incidental findings, i.e. findings that are not directly related to the actual issue.

The patient agrees that CENTOGENE stores and uses

(1) his/her remaining samples and test results that may contain data about his/her health for research purposes (e.g. to detect and develop biomarkers) as well as to facilitate and improve the diagnosis of genetic changes and diseases (also) in other patients and (2) his/her test results that may contain data about his/her health in an anonymized or pseudonymized form together with other test results in a database and provides access to the database to physicians, scientists, researchers and (pharmaceutical) companies for research and other purposes, as well as to facilitate and improve the diagnosis of genetic changes and diseases (also) for other patients.

The test results contained in the database are anonymous for the physicians, scientists, researchers and companies. We/I also confirm that the patient was informed that anonymized test results in CENTOGENE’s database cannot be destroyed as they become unidentifiable and untraceable after their input into CENTOGENE’s database.

yes no

yes no

yes no


Patient name

Age of manifestation

Unaffected A. Consanguinity

B. Affected siblings

Family history:

YES

YES

NO

NO

Please provide detailed clinical information

Please tick the appropriate phenotype(s)

Clinical information

Pedigree

MANDATORY

7.8 Stroke

B. METABOLISM1. Abnormal creatine kinase

2. Decreased plasma carnitine

3. Hyperalaninemia

4. Hypoglycemia

5. Increased CSF lactate

6. Increased serum pyruvate

7. Ketosis

8. Lactic acidosis

9. Organic aciduria

C. EYE1. Blepharospasm

2. Cataract

3. Coloboma

4. Glaucoma

5. Microphthalmos

6. Nystagmus

7. Ophthalmoplegia

8. Optic atrophy

9. Ptosis

10. Retinitis pigmentosa

11. Retinoblastoma

12. Strabismus

13. Visual impairment

D. MOUTH, THROAT AND EAR1. Abnormality of dental color

2. Cleft lip / palate

3. Conductive hearing impair.

4. External ear malformation

5. Hypodontia

6. Sensoneural hearing impair.

E. SKIN, INTEGUMENT AND SKELETAL1. Skeletal

1.1 Abnormal limb morphology

1.2 Abnormal vertebral column

1.3 Abnormality of the skeletal system

1.4 Joint hypermobility

1.5 Multiple joint contractures

1.6 Polydactyly

1.7 Scoliosis

1.8 Syndactyly

1.9 Talipes equinovarus

3. Endocrine

3.1 Diabetes mellitus

3.2 Hyperparathyroidism

3.3 Hyperthyroidism

3.4 Hypoparathyroidism

3.5 Hypothyroidism

H. REPRODUCTION1. Abnormal external genitalia

2. Abnormal internal genitalia

3. Hypogonadism

4. Hypospadias

5. Infertility

I. ONCOLOGY1. Adenomatous colonic polyposis

2. Breast carcinoma

3. Colorectal carcinoma

4. Leukemia

5. Myelofibrosis

6. Neoplasm of the lung

7. Neoplasm of the skin

8. Paraganglioma

9. Pheochromocytoma

J. HEMATOLOGY AND IMMUNOLOGY1. Abnormal hemoglobin

2. Abnormality of coagulation

3. Anemia

4. Immunodeficiency

5. Neutropenia

6. Pancytopenia

7. Splenomegaly

8. Thrombocytopenia

K. PRENATAL AND DEVELOPMENT1. Abnormal facial shape

2. Failure to thrive

3. Hemihypertrophy

4. Hydrops fetalis

5. IUGR

6. Oligohydramnios

7. Overgrowth

8. Polyhydramnios

9. Premature birth

10. Short stature

11. Tall stature

2. Skin and integument

2.1 Abnormal hair

2.2 Abnormal nail

2.3 Abnormal skin pigmentation

2.4 Hyperextensible skin

2.5 Ichthyosis

F. CARDIOVASCULAR1. Angioedema

2. Aortic dilatation

3. Arrhythmia

4. Atrial septal defect

5. Coarctation of aorta

6. Dilated cardiomyopathy

7. Hypertension

8. Hypertrophic cardiomyopathy

9. Hypotension

10. Lymphedema

11. Malf. of heart and great vessels

12. Myocardial infarction

13. Stroke

14. Tetralogy of Fallot

15. Vasculitis

16. Ventricular septal defect

G. GASTROINTESTINAL, GENITOURINARY, ENDOCRINE

1. Gastrointestinal

1.1 Aganglionic megacolon

1.2 Constipation

1.3 Diarrhea

1.4 Gastroschisis

1.5 Hepatic failure

1.6 Hepatomegaly

1.7 High hepatic transaminases

1.8 Obesity

1.9 Pyloric stenosis

1.10 Vomiting

2. Genitourinary

2.1 Abnormal renal morphology

2.2 Abnormal urinary system

2.3 Hydronephrosis

2.4 Renal agenesis

2.5 Renal cyst

2.6 Renal tubular dysfunction

A. NEUROLOGY1. Behavioral abnormality

1.1 Autism

1.2 Attention deficit disorder

1.3 Psychiatric diseases

2. Brain imaging

2.1 Abnormal cortical gyration

2.2 Abnormal myelination

2.3 Agenesis of corpus callosum

2.4 Brain atrophy

2.5 Cerebellar hypoplasia

2.6 Heterotopia

2.7 Holoprosencephaly

2.8 Hydrocephalus

2.9 Leukodystrophy

2.10 Lissencephaly

3. Developmental delay

3.1 Delayed language dev.

3.2 Delayed motor dev.

3.3 Developmental regression

3.4 Intellectual disability

4. Movement abnormality

4.1 Ataxia

4.2 Chorea

4.3 Dystonia

4.4 Parkinsonism

5. Neuromuscular abnormality

5.1 Hyperreflexia

5.2 Muscle hypertonia

5.3 Muscle hypotonia

5.4 Spasticity

6. Seizures

6.1 Febrile seizures

6.2 Focal seizures

6.3 Generalized seizures

7. Others

7.1 Craniosynostosis

7.2 Dementia

7.3 Encephalopathy

7.4 Headache

7.5 Macrocephaly

7.6 Microcephaly

7.7 Migraine


S NGS Panel Plus / Full gene sequencing D Deletion / Duplication analysis R Repeat expansion analysis H Hotspot testingC Somatic mutation analysis V NGS Panel G NGS Panel Genomic L Large extended screening P Prenatal testingP* Prenatal testing upon request (P or P* valid only in conjunction with S, D, R, H or L)Please note: Prenatal testing is currently not offered in the US. Please contact us directly.

› Metabolic Diseases - Panels

Panel name Genes Deletion / duplication testing (genes analyzed)

Test code S D R H C V G P

Brain iron accumulation syndromes panel ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, SCP2, WDR45 PANK2, ATP13A2, PLA2G6 5314 S D V G P

Ceroid lipofuscinosis panelATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1

ATP13A2, GRN, CLN3 5037 S D V G P

Congenital glycosylation disease panel

ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPM1, DPM2, DPM3, GMPPA, GNE, LARGE, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3

LARGE 5083 S D V G

Diabetes neonatal panel ABCC8, FOXP3, G6PC2, GCK, GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1 ABCC8, GCK, PDX1, INS, KCNJ11 5079 S D V G P

Diamond-Blackfan anemia panelGATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2

RPL35A, RPS17, RPL11, RPL5, RPS26, RPS19 5081 S D G P

Familial hypercholesterolemia panel APOB, GHR, LDLR, PCSK9 LDLR, GHR 5214 S D V G P

Fatty acid oxidation disorder panel

ACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HSD17B10, PPARG, SLC22A5, SLC25A20, TAZ

PPARG, SLC22A5, ACADVL 5268 S D V G P

Glycogen storage disease panel (basic) G6PC, SLC37A4, AGL, GBE1 5203 S V G P

Glycogen storage disease panel (advanced)

GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2

GAA 5204 S D V G P

Hyperinsulinemic hypoglycemia panel ABCC8, GCK, GLUD1, HADH, INSR, KCNJ11, SLC16A1 ABCC8, GCK, KCNJ11 5278 S D V G P

Leigh syndrome and mitochondrial en-cephalopathy panel

ACAD9, COQ8A, AIFM1, APTX, ATPAF2, BCS1L, TWNK, NDUFAF6, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1, LRPPRC, MPV17, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA13, NDUFAF1, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, NDUFA12, NDUFA9, NDUFAF5, SDHA, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, RARS2, SCO1, SCO2, SDHAF1, SUCLA2, SUCLG1, SURF1, TACO1, TK2, TMEM70, TSFM, TTC19, TUFM, TYMP

TWNK, SDHAF1, SUCLA2, COX10, APTX, SUCLG1, MPV17, DGUOK, PDHA1, SDHA, FH, TK2

5064 S D V G P

Lipodystrophy panel AGPAT2, BSCL2, CAV1, CIDEC, LIPE, LMNA, PIK3R1, PLIN1, PPARG, PTRF PPARG, LMNA 5308 S D V G

Lysosomal storage disease panelARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1

HEXA, SMPD1, GALC 5101 S D V G P

Methylmalonic acidemia panel (basic) MCEE, MMAA, MMAB, MMADHC, MUT 5216 S V G P

Methylmalonic acidemia panel (advanced)ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1

SUCLA2, SUCLG1, MLYCD 5217 S D V G P

MODY panelABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HN-F4A, INS, KCNJ11, KLF11, NEUROD1, NKX2-2, PAX4, PDX1, RFX6, ZFP57

ABCC8, CEL, GCK, KCNJ11, HNF4A, PDX1, HNF1A, INS, PAX4, NEUROD1, HNF1B, ZFP57, KLF11

5078 S D V G P

Mucopolysaccharidosis panel ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH IDS 5069 S D V G P

Non ketotic hyperglycinemia panel AMT, GCSH, GLDC GLDC, GCSH, AMT 5345 S D V P

Obesity panel

ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, CUL4B, DYRK1B, GNAS, IFT27, LEP, LEPR, LZT-FL1, MAGEL2, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, PHF6, POMC, SDCCAG8, SIM1, TRIM32, TTC8, UCP3, VPS13B, WDPCP

GNAS, LEP, LEPR, MC4R, POMC, SIM1, VPS13B 5301 S D

Refsum disease panel PEX1, PEX2, PEX26, PEX7, PHYH 5094 S V G P

Surfactant metabolism dysfunction panel ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD CSF2RA 5211 S D V G P

Urea cycle disorder panel ARG1, ASL, ASS1, CPS1, NAGS, OTC OTC 5072 S D V G P

Zellweger syndrome panel PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 5049 S V G P



› Metabolic Diseases - Large Extended Screening Panels

Panel name Genes Test code L P

CentoICU™ platinum AARS, AARS2, AASS, ABAT, ABCA12, ABCA3, ABCB11, ABCC8, ABCD1, ABCD3, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACTA1, ADA, ADAMTS13, ADAR, ADK, ADNP, ADSL, AGK, AGL, AGRN, AGXT, AHCY, AICDA, AIFM1, AIMP1, AKAP9, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG14, ALG2, ALG3, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, ALS2, AMACR, AMT, ANK1, ANKRD26, ANKS6, ANTXR1, AP2S1, AP4B1, AP4E1, AP4M1, AP4S1, APOB, ARG1, ARL6, ARSA, ARSB, ARX, ASL, ASNS, ASPA, ASPM, ASS1, ATP1A3, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATPAF2, ATR, ATRX, AUH, BCAP31, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BICD2, BIN1, BLNK, BOLA3, BRAF, BRAT1, BRCA2, BSND, BTD, BTK, C10orf2, C12orf65, C21orf59, CA12, CACNA1C, CACNB2, CALM1, CAMTA1, CASK, CASR, CAST, CAV3, CBS, CCDC103, CCDC114, CCDC78, CD19, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD59, CD79A, CD79B, CD81, CD96, CDAN1, CDK5RAP2, CDKL5, CDKN1C, CENPJ, CEP152, CEP290, CERS3, CFH, CFHR3, CFL2, CFTR, CHAT, CHD7, CHKB, CHM, CHRNA1, CHRNB1, CHRND, CHRNE, CIDEC, CLCNKA, CLCNKB, CLPB, CNTN1, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COMP, COQ2, COQ9, CORO1A, COX10, COX15, COX20, COX6B1, CPS1, CPT1A, CPT2, CR2, CRTAP, CTNS, CTPS1, CTSA, CTSD, CUL4B, CXCR4, CYP11B1, CYP11B2, CYP17A1, CYP4F22, CYP7B1, D2HGDH, DBT, DCLRE1C, DDC, DDOST, DDR2, DECR1, DEPDC5, DES, DGUOK, DHCR24, DHCR7, DIAPH1, DLAT, DLD, DMD, DNA2, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC19, DNM2, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM2, DPYD, DRC1, DSP, DST, DUOX2, DUOXA2, DYSF, EDN3, EEF1A2, EGR2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELANE, ENPP1, EPB42, EPCAM, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FADD, FAH, FANCA, FANCB, FANCC, FANCD2, FANCL, FARS2, FASTKD2, FBN1, FBP1, FBXL4, FGA, FGB, FGFR2, FGFR3, FGG, FH, FIG4, FKBP14, FKRP, FKTN, FOXC1, FOXG1, FOXP3, FOXRED1, FRAS1, FUCA1, G6PC2, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GARS, GATA1, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GFAP, GFM1, GFPT1, GJA1, GJB2, GJB4, GK, GLA, GLB1, GLDC, GLIS3, GLRA1, GLRB, GLUD1, GLYCTK, GMPPB, GNAS, GNE, GNMT, GNPAT, GNPTAB, GP1BA, GP1BB, GP9, GPC3, GPHN, GPSM2, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HESX1, HEXA, HEXB, HGD, HGF, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HPGD, HRAS, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HSPA9, HSPD1, HSPG2, ICOS, IDUA, IER3IP1, IFIH1, IFT172, IGF1, IGF1R, IGHMBP2, IGLL1, IKBKB, IL12RB1, IL2RA, IL2RG, IL7R, INS, INSR, INVS, IRF8, ISPD, ITGA2B, ITGA6, ITGA7, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, JAM3, KAT6A, KAT6B, KBT-BD13, KCNE1, KCNH1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIF1B, KLF1, KLHL40, KLHL41, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LAMTOR2, LARS2, LAS1L, LCT, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LIPT1, LMBRD1, LMNA, LPIN1, LRBA, LRPPRC, LRRC8A, MAGEL2, MAGT1, MALT1, MAN2B1, MANBA, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCEE, MCM4, MCPH1, MECP2, MED12, MEF2C, MEGF10, MFN2, MFSD8, MITF, MKKS, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MPI, MPL, MPV17, MPZ, MRPL3, MRPL44, MSMO1, MTHFR, MTM1, MTMR14, MTO1, MTR, MTRR, MUSK, MUT, MVK, MYCN, MYH9, NAA10, NAGA, NAGS, NALCN, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NDUFV2, NEB, NEFL, NEU1, NEUROG3, NEXN, NFKB2, NFU1, NGF, NHEJ1, NIPAL4, NIPBL, NKX2-1, NKX2-5, NLRC4, NLRP3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NR0B1, NR3C2, NRAS, NSD1, NSDHL, NUBPL, OAT, OCLN, OCRL, OPA3, OPHN1, OPLAH, ORC1, ORC4, OTC, OXCT1, PAFAH1B1, PAH, PAX2, PAX3, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH19, PCNT, PDCD10, PDE10A, PDHA1, PDHB, PDHX, PDP1, PDSS2, PDX1, PEPD, PEX1, PEX10, PEX13, PEX19, PEX7, PGAP1, PHGDH, PHOX2B, PIGA, PIGN, PIGT, PIGV, PIK3CD, PKD2, PKHD1, PKLR, PLCB4, PLEC, PLOD1, PLP1, PMM2, PMP22, PNKP, PNP, PNPLA1, PNPO, PNPT1, POGZ, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU1F1, PPT1, PRDM16, PRKAG2, PRKDC, PROC, PRODH, PROP1, PROS1, PRPS1, PRRT2, PSAP, PSAT1, PSPH, PTPN11, PTPRC, PTRF, PTRH2, PTS, PURA, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1, RAG1, RAG2, RANBP2, RAPSN, RARS2, RB1, RBBP8, RBM8A, RET, RFT1, RFX5, RFX6, RIT1, RMND1, RMRP, RNASEH2C, RNASET2, RNU4ATAC, RORC, RPS19, RRM2B, RYR1, SALL1, SATB2, SBDS, SCN1A, SCN2A, SCN4A, SCN5A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SEPN1, SERAC1, SERPINC1, SERPING1, SFT-PB, SFTPC, SFTPD, SHOC2, SIL1, SIX3, SIX5, SKI, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC26A2, SLC26A3, SLC2A1, SLC30A2, SLC33A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC52A3, SLC5A1, SLC5A5, SLC6A1, SLC6A3, SLC6A5, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SNAI2, SNX10, SOS1, SOX10, SOX2, SOX9, SPAST, SPEG, SPINK5, SPINT2, SPR, SPRED1, SPTA1, SPTAN1, SPTB, SRD5A3, ST3GAL3, ST3GAL5, STAR, STAT1, STAT3, STIL, STIM1, STS, STT3B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SYNE1, TACO1, TAT, TAZ, TBC1D24, TBCE, TBX19, TBX5, TCAP, TCN2, TFR2, TG, TGM1, TH, THRA, TJP2, TMCO1, TMEM165, TMEM173, TMEM5, TMEM70, TNFRSF13B, TNFRSF13C, TNFSF4, TNNT1, TP63, TPM2, TPM3, TPO, TPP1, TRIP11, TRMU, TRPV4, TSC1, TSC2, TSFM, TSHB, TSHR, TSPYL1, TTC7A, TTN, TUBA8, TUBB2A, UBA1, UGT1A1, UMPS, UNG, UPB1, UQCRC2, UROD, UROS, WAS, WDPCP, WDR62, WDR73, WFS1, WNK1, WT1, ZAP70, ZEB2, ZFP57, ZNF423

5288

L P*



Panel name Genes Test code L P

CentoICU™ platinum plus AARS, AARS2, AASS, ABAT, ABCA12, ABCA3, ABCB11, ABCC8, ABCD1, ABCD3, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACTA1, ADA, ADAMTS13, ADAR, ADK, ADNP, ADSL, AGK, AGL, AGRN, AGXT, AHCY, AICDA, AIFM1, AIMP1, AKAP9, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG14, ALG2, ALG3, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, ALS2, AMACR, AMT, ANK1, ANKRD26, ANKS6, ANTXR1, AP2S1, AP4B1, AP4E1, AP4M1, AP4S1, APOB, ARG1, ARL6, ARSA, ARSB, ARX, ASL, ASNS, ASPA, ASPM, ASS1, ATP1A3, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATPAF2, ATR, ATRX, AUH, BCAP31, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BICD2, BIN1, BLNK, BOLA3, BRAF, BRAT1, BRCA2, BSND, BTD, BTK, C10orf2, C12orf65, C21orf59, CA12, CACNA1C, CACNB2, CALM1, CAMTA1, CASK, CASR, CAST, CAV3, CBS, CCDC103, CCDC114, CCDC78, CD19, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD59, CD79A, CD79B, CD81, CD96, CDAN1, CDK5RAP2, CDKL5, CDKN1C, CENPJ, CEP152, CEP290, CERS3, CFH, CFHR3, CFL2, CFTR, CHAT, CHD7, CHKB, CHM, CHRNA1, CHRNB1, CHRND, CHRNE, CIDEC, CLCNKA, CLCNKB, CLPB, CNTN1, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COMP, COQ2, COQ9, CORO1A, COX10, COX15, COX20, COX6B1, CPS1, CPT1A, CPT2, CR2, CRTAP, CTNS, CTPS1, CTSA, CTSD, CUL4B, CXCR4, CYP11B1, CYP11B2, CYP17A1, CYP4F22, CYP7B1, D2HGDH, DBT, DCLRE1C, DDC, DDOST, DDR2, DECR1, DEPDC5, DES, DGUOK, DHCR24, DHCR7, DIAPH1, DLAT, DLD, DMD, DNA2, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC19, DNM2, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM2, DPYD, DRC1, DSP, DST, DUOX2, DUOXA2, DYSF, EDN3, EEF1A2, EGR2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELANE, ENPP1, EPB42, EPCAM, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FADD, FAH, FANCA, FANCB, FANCC, FANCD2, FANCL, FARS2, FASTKD2, FBN1, FBP1, FBXL4, FGA, FGB, FGFR2, FGFR3, FGG, FH, FIG4, FKBP14, FKRP, FKTN, FOXC1, FOXG1, FOXP3, FOXRED1, FRAS1, FUCA1, G6PC2, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GARS, GATA1, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GFAP, GFM1, GFPT1, GJA1, GJB2, GJB4, GK, GLA, GLB1, GLDC, GLIS3, GLRA1, GLRB, GLUD1, GLYCTK, GMPPB, GNAS, GNE, GNMT, GNPAT, GNPTAB, GP1BA, GP1BB, GP9, GPC3, GPHN, GPSM2, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HESX1, HEXA, HEXB, HGD, HGF, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HPGD, HRAS, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HSPA9, HSPD1, HSPG2, ICOS, IDUA, IER3IP1, IFIH1, IFT172, IGF1, IGF1R, IGHMBP2, IGLL1, IKBKB, IL12RB1, IL2RA, IL2RG, IL7R, INS, INSR, INVS, IRF8, ISPD, ITGA2B, ITGA6, ITGA7, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, JAM3, KAT6A, KAT6B, KBT-BD13, KCNE1, KCNH1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIF1B, KLF1, KLHL40, KLHL41, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LAMTOR2, LARS2, LAS1L, LCT, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LIPT1, LMBRD1, LMNA, LPIN1, LRBA, LRPPRC, LRRC8A, MAGEL2, MAGT1, MALT1, MAN2B1, MANBA, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCEE, MCM4, MCPH1, MECP2, MED12, MEF2C, MEGF10, MFN2, MFSD8, MITF, MKKS, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MPI, MPL, MPV17, MPZ, MRPL3, MRPL44, MSMO1, MTHFR, MTM1, MTMR14, MTO1, MTR, MTRR, MUSK, MUT, MVK, MYCN, MYH9, NAA10, NAGA, NAGS, NALCN, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NDUFV2, NEB, NEFL, NEU1, NEUROG3, NEXN, NFKB2, NFU1, NGF, NHEJ1, NIPAL4, NIPBL, NKX2-1, NKX2-5, NLRC4, NLRP3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NR0B1, NR3C2, NRAS, NSD1, NSDHL, NUBPL, OAT, OCLN, OCRL, OPA3, OPHN1, OPLAH, ORC1, ORC4, OTC, OXCT1, PAFAH1B1, PAH, PAX2, PAX3, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH19, PCNT, PDCD10, PDE10A, PDHA1, PDHB, PDHX, PDP1, PDSS2, PDX1, PEPD, PEX1, PEX10, PEX13, PEX19, PEX7, PGAP1, PHGDH, PHOX2B, PIGA, PIGN, PIGT, PIGV, PIK3CD, PKD2, PKHD1, PKLR, PLCB4, PLEC, PLOD1, PLP1, PMM2, PMP22, PNKP, PNP, PNPLA1, PNPO, PNPT1, POGZ, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU1F1, PPT1, PRDM16, PRKAG2, PRKDC, PROC, PRODH, PROP1, PROS1, PRPS1, PRRT2, PSAP, PSAT1, PSPH, PTPN11, PTPRC, PTRF, PTRH2, PTS, PURA, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1, RAG1, RAG2, RANBP2, RAPSN, RARS2, RB1, RBBP8, RBM8A, RET, RFT1, RFX5, RFX6, RIT1, RMND1, RMRP, RNASEH2C, RNASET2, RNU4ATAC, RORC, RPS19, RRM2B, RYR1, SALL1, SATB2, SBDS, SCN1A, SCN2A, SCN4A, SCN5A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SEPN1, SERAC1, SERPINC1, SERPING1, SFT-PB, SFTPC, SFTPD, SHOC2, SIL1, SIX3, SIX5, SKI, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC26A2, SLC26A3, SLC2A1, SLC30A2, SLC33A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC52A3, SLC5A1, SLC5A5, SLC6A1, SLC6A3, SLC6A5, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SNAI2, SNX10, SOS1, SOX10, SOX2, SOX9, SPAST, SPEG, SPINK5, SPINT2, SPR, SPRED1, SPTA1, SPTAN1, SPTB, SRD5A3, ST3GAL3, ST3GAL5, STAR, STAT1, STAT3, STIL, STIM1, STS, STT3B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SYNE1, TACO1, TAT, TAZ, TBC1D24, TBCE, TBX19, TBX5, TCAP, TCN2, TFR2, TG, TGM1, TH, THRA, TJP2, TMCO1, TMEM165, TMEM173, TMEM5, TMEM70, TNFRSF13B, TNFRSF13C, TNFSF4, TNNT1, TP63, TPM2, TPM3, TPO, TPP1, TRIP11, TRMU, TRPV4, TSC1, TSC2, TSFM, TSHB, TSHR, TSPYL1, TTC7A, TTN, TUBA8, TUBB2A, UBA1, UGT1A1, UMPS, UNG, UPB1, UQCRC2, UROD, UROS, WAS, WDPCP, WDR62, WDR73, WFS1, WNK1, WT1, ZAP70, ZEB2, ZFP57, ZNF423

5289

L P*

› Metabolic Diseases

Disease Gene Test code OMIM Gene S D R H C P

2-aminoadipic 2-oxoadipic aciduria DHTKD1 2317 614984 S

2-methylbutyrylglycinuria ACADSB 2778 600301 S

3-beta-hydroxysteroid dehydrogenase deficiency type 2 HSD3B2 74 613890 S D P

3-hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCL 366 613898 S D

3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency HMGCS2 2840 600234 S D

3-hydroxyisobutryl-CoA hydrolase deficiency HIBCH 2839 610690 S

3-methylglutaconic aciduria type 1 AUH 1350 600529 S D P

3-methylglutaconic aciduria type 3 OPA3 1402 606580 S D H P

3-methylglutaconic aciduria type 5 DNAJC19 2298 608977 S

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SERAC1 2299 614725 S D

5-oxoprolinase deficiency OPLAH 2855 614243 S

6q24-related transient neonatal diabetes mellitus type 1 UPD chr. 6 3097 D

17-hydroxylation activity deficiency CYP17A1 73 609300 S D P

Abetalipoproteinemia MTTP 2763 157147 S

Acetycholinesterase deficiency ACHE 2786 100740 S

Acetyl-CoA carboxylase deficiency ACACA 8013 200350 S

Acyl-CoA medium-chain dehydrogenase deficiency ACADM 330 607008 S D P

Acyl-CoA multiple dehydrogenase deficiency ETFA 332 608053 S D P

Acyl-CoA multiple dehydrogenase deficiency ETFB 333 130410 S D P




Acyl-CoA short-chain dehydrogenase deficiency ACADS 334 606885 S D H P

Acyl-CoA very long-chain dehydrogenase deficiency ACADVL 335 609575 S D P

Adenine phosphoribosyltransferase deficiency APRT 2761 102600 S

Adenylosuccinase deficiency ADSL 1571 608222 S

Adrenal hyperplasia due to 21-hydroxylase deficiency CYP21A2 336 613815 S D P

Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency POR 75 124015 S D P

Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency CYP11B1 337 610613 S D P

Adrenal hypoplasia NR0B1 338 300473 S D P

Alkaptonuria HGD 16 607474 S D H P

Alpha-2-macroglobulin deficiency A2M 1825 103950 S

Alpha-ketoglutarate dehydrogenase deficiency OGDH 2854 613022 S

Alpha-methylacyl CoA racemase deficiency AMACR 339 604489 S D P

Aminoacylase deficiency ACY1 1572 104620 S

AMP deaminase deficiency, erythrocytic AMPD3 2254 102772 S

Amyloidosis, familial visceral APOA1 2106 107680 S D

Andersen disease GBE1 340 607839 S D P

Anemia dyserythropoietic type 1A CDAN1 341 607465 S D P

Anemia dyserythropoietic type 2 SEC23B 342 610512 S D P

Antitrypsin-alpha-1 deficiency SERPINA1 345 107400 S D H P

Aplastic anemia PRF1 225 170280 S D P

Aplastic anemia TERC 291 602322 S D P

Aplastic anemia, SBDS related SBDS 252 607444 S D P

Apolipoprotein C-II deficiency APOC2 346 608083 S D P

Apparent mineralocorticoid excess HSD11B2 76 614232 S D P

Arginase deficiency ARG1 347 608313 S

Arginine-glycine amidinotransferase deficiency GATM 348 602360 S D P

Argininosuccinic aciduria ASL 349 608310 S D H P

Aromatic L-amino acid decarboxylase deficiency DDC 2835 107930 S

Asparaginesynthetase deficiency ASNS 2013 108370 S

Aspartylglucosaminuria AGA 2244 613228 S

Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency ST6GAL2 2006 608472 S P

Beta-ureidopropionase deficiency UPB1 2466 606673 S D

Bile acid malabsorption, primary SLC10A2 3044 601295 S

Bile acid synthesis defect type 2, congenital AKR1D1 2779 604741 S

Bile acid synthesis defect type 3, congenital CYP7B1 350 603711 S D P

Bile acid synthesis defect type 4, congenital AMACR 339 604489 S D P

Biotinidase deficiency BTD 351 609019 S D H P

Bloom syndrome BLM 352 604610 S D P

Branched-chain aminotransferase 1 deficiency BCAT1 2656 113520 S

Branched-chain aminotransferase 2 deficiency BCAT2 2657 113530 S

Branched-chain ketoacid dehydrogenase kinase deficiency BCKDK 2795 614901 S

Bronchiectasis with or without elevated sweat chloride type 2 SCNN1A 214 600228 S D P

Butyrylcholinesterase deficiency BCHE 2741 177400 S D

Carbamoylphosphate synthetase I deficiency CPS1 353 608307 S D P

Carnitine deficiency SLC22A5 1463 603377 S D P

Carnitine palmitoyltransferase 1A deficiency CPT1A 1779 600528 S D P

Carnitine palmitoyltransferase 1B deficiency CPT1B 1362 601987 S

Carnitine palmitoyltransferase 2 deficiency, infantile CPT2 354 600650 S D P

Carnitine palmitoyltransferase 2 deficiency, lethal neonatal CPT2 354 600650 S D P

Carnitine-acylcarnitine translocase deficiency SLC25A20 1573 613698 S D P

Catechol-o-methyltransferase deficiency COMT 2768 116790 S

Ceroid lipofuscinosis neuronal type 1 PPT1 355 600722 S D P

Ceroid lipofuscinosis neuronal type 2 TPP1 1613 607998 S D P

Ceroid lipofuscinosis neuronal type 3 CLN3 1273 607042 S D P

Ceroid lipofuscinosis neuronal type 4 DNAJC5 1569 611203 S



Ceroid lipofuscinosis neuronal type 7 MFSD8 360 611124 S D P*


Ceroid lipofuscinosis neuronal type 10 CTSD 356 116840 S D P

Ceroid lipofuscinosis neuronal type 11 GRN 762 138945 S D P*

Chanarin-Dorfman syndrome ABHD5 362 604780 S D P

Chloramphenicol resistance, MT-RNR2 related MT-RNR2 2556 561010 S

Cholestasis benign recurrent intrahepatic type 2 ABCB11 177 603201 S D P

Cholestasis intrahepatic, of pregnancy, type 3 ABCB4 1858 171060 S D P




Cholestasis progressive intrahepatic type 1 ATP8B1 114 602397 S D P

Cholestasis progressive intrahepatic type 2 ABCB11 177 603201 S D P

Cholestasis progressive intrahepatic type 3 ABCB4 1858 171060 S D P

Cholestasis, benign recurrent intrahepatic ATP8B1 114 602397 S D P

Cholestasis, intrahepatic, of pregnancy, type 1 ATP8B1 114 602397 S D P

Cholesteryl ester storage disease LIPA 489 613497 S D P

Chylomicron retention disease SAR1B 3188 607690 S

Citrin deficiency SLC25A13 363 603859 S D P

Citrullinemia ASS1 364 603470 S D P

CoA-2 4-dienoyl reductase 1 deficiency DECR1 365 222745 S

CoA-3-hydroxyacyl dehydrogenase deficiency HADH 367 601609 S

CoA-3-methylcrontonyl carboxylase 1 deficiency MCCC1 368 609010 S

CoA-3-methylcrontonyl carboxylase 2 deficiency MCCC2 369 609014 S

Colchicine resistance ABCB1 1790 171050 S

Combined D-2- and L-2-hydroxyglutaric aciduria SLC25A1 2235 190315 S D

Combined malonic and methylmalonic aciduria ACSF3 1454 614245 S

Combined oxidative phosphorylation deficiency type 1 GFM1 1406 606639 S

Combined oxidative phosphorylation deficiency type 2 MRPS16 981 609204 S

Combined oxidative phosphorylation deficiency type 3 TSFM 1410 604723 S

Combined oxidative phosphorylation deficiency type 4 TUFM 1412 602389 S

Combined oxidative phosphorylation deficiency type 5 MRPS22 2500 605810 S

Combined oxidative phosphorylation deficiency type 6 AIFM1 1353 300169 S D P

Combined oxidative phosphorylation deficiency type 7 C12ORF65 1365 613541 S

Combined oxidative phosphorylation deficiency type 8 AARS2 2607 612035 S

Combined oxidative phosphorylation deficiency type 9 MRPL3 2184 607118 S

Combined oxidative phosphorylation deficiency type 10 MTO1 2316 614667 S D P

Combined oxidative phosphorylation deficiency type 11 RMND1 2366 614917 S

Combined oxidative phosphorylation deficiency type 12 EARS2 2658 612799 S D

Combined oxidative phosphorylation deficiency type 13 PNPT1 2686 610316 S

Combined oxidative phosphorylation deficiency type 14 FARS2 2685 611592 S

Combined oxidative phosphorylation deficiency type 15 MTFMT 2025 611766 S D

Combined oxidative phosphorylation deficiency type 16 MRPL44 2684 611849 S

Combined oxidative phosphorylation deficiency type 17 ELAC2 1197 605367 S

Combined oxidative phosphorylation deficiency type 18 SFXN4 2345 615564 S

Combined oxidative phosphorylation deficiency type 19 LYRM4 2683 613311 S

Combined oxidative phosphorylation deficiency type 20 VARS2 2507 612802 S

Combined oxidative phosphorylation deficiency type 21 TARS2 2682 612805 S

Combined oxidative phosphorylation deficiency type 22 ATP5A1 2681 164360 S

Combined oxidative phosphorylation deficiency type 23 GTPBP3 2680 608536 S

Combined oxidative phosphorylation deficiency type 24 NARS2 2679 612803 S D

Combined oxidative phosphorylation deficiency type 25 MARS2 2678 609728 S

Combined oxidative phosphorylation deficiency type 26 TRMT5 2677 611023 S

Congenital disorder of glycosylation, type Ip ALG11 2393 613666 S

Congenital disorder of glycosylation, type Iq SRD5A3 2394 611715 S

Congenital disorder of glycosylation, type Iw STT3A 2932 601134 S

Coproporphyria CPOX 2223 612732 S D

Coumarin resistance VKORC1 2960 608547 S

Coumarin/Warfarin resistance due to CYP2C9 variants CYP2C9 2880 601130 S D

Creatine deficiency syndrome X-linked SLC6A8 276 300036 S D P

CYP2C19 related poor drug metabolism CYP2C19 1949 124020 S D P

Cystathioninuria CTH 2845 219500 S

Cystic fibrosis CFTR 8019 602421 S D P

Cystic fibrosis, SLC6A14 related SLC6A14 2700 300444 S D

Cystinosis, nephropathic CTNS 371 606272 S D P

Cytochrome P450 deficiency CYP1A2 1988 124060 S D

D-2-hydroxyglutaric aciduria type 1 D2HGDH 1515 609186 S D P

D-2-hydroxyglutaric aciduria type 2 IDH2 2143 147650 S D P

D-bifunctional protein deficiency HSD17B4 1095 601860 S D P

D-glyceric aciduria GLYCTK 2838 610516 S

Diabetes insipidus, nephrogenic, X-linked AVPR2 28 300538 S D P

Diabetes insipidus, neurohypophyseal AVP 2785 192340 S D

Diabetes mellitus type 1 INS 90 176730 S D P

Diabetes mellitus, insulin-dependent type 20 HNF1A 450 142410 S D P*

Diabetes mellitus, insulin-resistant with acanthosis nigricans INSR 372 147670 S D P*

Diabetes mellitus, neonatal GLIS3 1458 610192 S P




Diabetes mellitus, noninsulin-dependent ABCC8 429 600509 S D P

Diabetes mellitus, noninsulin-dependent AKT2 2782 164731 S

Diabetes mellitus, noninsulin-dependent KCNJ11 146 600937 S D P

Diabetes mellitus, permanent neonatal ABCC8 429 600509 S D P

Diabetes mellitus, transient neonatal type 2 ABCC8 429 600509 S D P

Diabetes, IGF2 related IGF2 1751 147470 S D P

Diarrhea type 1, secretory chloride, congenital SLC26A3 2909 126650 S D P

Diarrhea type 4, malabsorptive, congenital NEUROG3 1504 604882 S D P

Dihydropyrimidine dehydrogenase deficiency DPYD 2257 612779 S D

Dihydropyrimidinuria DPYS 2970 613326 S

Dimethylglycine dehydrogenase deficiency DMGDH 2470 605849 S

Dyggve-Melchior-Clausen disease DYM 3043 607461 S

Efavirenz, poor metabolism of CYP2B6 2502 123930 S D

Enterokinase deficiency TMPRSS15 2516 606635 S

Erythrocyte lactate transporter defect SLC16A1 2643 600682 S D P*

Fabry disease GLA 373 300644 S D P

Factor II deficiency F2 374 176930 S H

Factor V deficiency F5 375 612309 S H P

Factor XIIIB deficiency F13B 2328 134580 S

Fanconi anemia type A FANCA 376 607139 S D P

Fanconi anemia type B FANCB 195 300515 S D P

Fanconi anemia type C FANCC 378 613899 S

Fanconi anemia type D1 BRCA2 379 600185 S D

Fanconi anemia type D2 FANCD2 380 613984 S D P

Fanconi anemia type E FANCE 381 613976 S

Fanconi anemia type F FANCF 382 613897 S P

Fanconi anemia type G FANCG 383 602956 S D

Fanconi anemia type I FANCI 384 611360 S

Fanconi anemia type J BRIP1 385 605882 S D P

Fanconi anemia type L FANCL 386 608111 S

Fanconi anemia type M FANCM 387 609644 S

Fanconi anemia type N PALB2 388 610355 S D P

Fanconi anemia type P SLX4 389 613278 S P

Fanconi anemia, XRCCR2 related XRCC2 297 600375 S D P*

Fanconi-Bickel syndrome SLC2A2 390 138160 S D P

Farber disease ASAH1 391 613468 S D P

Favism, susceptibility to G6PD 400 305900 S D P*

Fish eye disease LCAT 1962 606967 S D P

Folate malabsorption, hereditary SLC46A1 2866 611672 S

Fructose-1,6-bisphosphatase deficiency FBP1 392 611570 S D P

Fructose intolerance ALDOB 393 612724 S D P

Fructose uptake deficiency, SLC2A5 related SLC2A5 2737 138230 S

Fructosuria essential KHK 394 614058 S

Fucosidosis FUCA1 197 612280 S D P

Fumarase deficiency FH 1335 136850 S D P

GABA-transaminase deficiency ABAT 2776 137150 S

Galactokinase deficiency GALK1 396 604313 S D P

Galactose epimerase deficiency GALE 397 606953 S D P

Galactosemia GALT 398 606999 S D P

Galactosialidosis CTSA 1433 613111 S D P

Gallbladder disease type 1 ABCB4 1858 171060 S D P

Gaucher disease type 1 GBA 399 606463 S D P

Gaucher disease type 2 GBA 399 606463 S D H P

Gaucher disease type 3C GBA 399 606463 S D H P

Gaucher disease type 3 GBA 399 606463 S D H P

Gaucher disease, atypical PSAP 232 176801 S D P

Gaucher disease, perinatal lethal GBA 399 606463 S D H P

Glucocorticoid deficiency type 1 MC2R 1521 607397 S

Glucocorticoid deficiency type 2 MRAP 1887 609196 S

Glucose/Galactose malabsorption SLC5A1 1977 182380 S D P

Glutamate formiminotransferase deficiency FTCD 2241 606806 S

Glutamine deficiency, congenital GLUL 2616 138290 S

Glutaric acidemia type 1 GCDH 401 608801 S D P

Glutaric acidemia type 2C ETFDH 331 231675 S D P

Glutaric aciduria type 3 SUGCT 2869 609187 S




Glutathione S-transferase theta-1 defficiency GSTT1 1915 600436 S D

Glutathione synthetase deficiency GSS 1570 601002 S D P

Glycerol kinase deficiency GK 402 300474 S D P

Glycogen storage disease of heart (lethal) PRKAG2 226 602743 S D P*

Glycogen storage disease type 0 muscle GYS1 403 138570 S D P

Glycogen storage disease type 0 GYS2 1875 138571 S D P

Glycogen storage disease type 1A G6PC 404 613742 S D P

Glycogen storage disease type 1B SLC37A4 275 602671 S D P

Glycogen storage disease type 1C SLC37A4 275 602671 S D P

Glycogen storage disease type 2 GAA 405 606800 S D H P

Glycogen storage disease type 3 AGL 9 610860 S D P

Glycogen storage disease type 4 GBE1 340 607839 S D P

Glycogen storage disease type 5 PYGM 235 608455 S D H P

Glycogen storage disease type 6B PYGL 407 613741 S D P

Glycogen storage disease type 7 PFKM 213 610681 S D P

Glycogen storage disease type 9A PHKA2 408 300798 S D P

Glycogen storage disease type 9B PHKB 409 172490 S D P

Glycogen storage disease type 9C PHKG2 1873 172471 S P

Glycogen storage disease type 10 PGAM2 1392 612931 S D P*

Glycogen storage disease type 11 LDHA 410 150000 S D P

Glycogen storage disease type 12 ALDOA 1874 103850 S

Glycogen storage disease type 13 ENO3 411 131370 S P

Glycogen storage disease type 14 PGM1 1393 171900 S D

Glycogen storage disease type 15 GYG1 1574 603942 S P

Glycosylation disorder type 1A PMM2 218 601785 S D

Glycosylation disorder type 1B MPI 168 154550 S P

Glycosylation disorder type 1C ALG6 15 604566 S

Glycosylation disorder type 1D ALG3 14 608750 S

Glycosylation disorder type 1E DPM1 412 603503 S P

Glycosylation disorder type 1F MPDU1 167 604041 S

Glycosylation disorder type 1G ALG12 12 607144 S

Glycosylation disorder type 1H ALG8 37 608103 S

Glycosylation disorder type 1I ALG2 13 607905 S

Glycosylation disorder type 1J DPAGT1 634 191350 S

Glycosylation disorder type 1K ALG1 11 605907 S D

Glycosylation disorder type 1L ALG9 17 606941 S

Glycosylation disorder type 1M DOLK 414 610746 S

Glycosylation disorder type 1N RFT1 241 611908 S

Glycosylation disorder type 1O DPM3 1575 605951 S

Glycosylation disorder type 1S ALG13 1726 300776 S

Glycosylation disorder type 1U DPM2 2619 603564 S

Glycosylation disorder type 2A MGAT2 165 602616 S

Glycosylation disorder type 2B MOGS 1576 601336 S

Glycosylation disorder type 2C SLC35C1 274 605881 S

Glycosylation disorder type 2D B4GALT1 316 137060 S

Glycosylation disorder type 2E COG7 198 606978 S P

Glycosylation disorder type 2F SLC35A1 273 605634 S

Glycosylation disorder type 2G COG1 416 606973 S D

Glycosylation disorder type 2H COG8 417 606979 S

Glycosylation disorder type 2I COG5 1578 606821 S

Glycosylation disorder type 2J COG4 1577 606976 S

Glycosylation disorder type 2K TMEM165 1196 614726 S D P

Glycosylation disorder type 2M SLC35A2 2045 314375 S

Glycosylation disorder type 3 COG6 1579 606977 S D P

Glycosylation disorder type IR DDOST 1107 602202 S

Glycosylation disorder x-linked SSR4 1963 300090 S

GM1-gangliosidosis type 1 GLB1 127 611458 S D P

GM1-gangliosidosis type 2 GLB1 127 611458 S D P

GM2-gangliosidosis type 2 HEXB 133 606873 S D P

Guanidinoacetate methyltransferase deficiency GAMT 418 601240 S D P

Hartnup disorder SLC6A19 419 608893 S D P

Hawkinsinuria HPD 2841 609695 S

HDL deficiency, type 2 ABCA1 2098 600046 S P

Hemochromatosis classical HFE 420 613609 S D H P

Hemochromatosis type 2A HFE2 421 608374 S D H P




Hemochromatosis type 2B HAMP 422 606464 S D P

Hemochromatosis type 3 TFR2 423 604720 S D P

Hemochromatosis type 4 SLC40A1 424 604653 S D P

Hemolytic anemia due to G6PD deficiency G6PD 400 305900 S D P*

Hemophilia A F8 1879 300841 S D H P

Holocarboxylase synthetase deficiency HLCS 1459 609018 S D P

Hurler syndrome IDUA 141 252800 S D P

Hurler-Scheie syndrome IDUA 141 252800 S D P

Hypercalcemia infantile type CYP24A1 1888 126065 S D P

Hypercholanemia BAAT 2186 602938 S

Hypercholanemia TJP2 1580 607709 S

Hypercholesterolemia autosomal dominant type 3 PCSK9 425 607786 S D P

Hypercholesterolemia autosomal recessive LDLRAP1 426 605747 S

Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant LDLR 427 606945 S D P

Hypercholesterolemia type B autosomanl dominant APOB 428 107730 S D P

Hyperchylomicronemia type 5 APOA5 2406 606368 S

Hyperinsulinaemia, association with, G6PC2 related G6PC2 1503 608058 S

Hyperinsulinemic hypoglycemia type 1 ABCC8 429 600509 S D P

Hyperinsulinemic hypoglycemia type 2 KCNJ11 146 600937 S D P

Hyperinsulinemic hypoglycemia type 3 GCK 430 138079 S D P

Hyperinsulinemic hypoglycemia type 6 GLUD1 431 138130 S P

Hyperinsulinemic hypoglycemia type 7 SLC16A1 2643 600682 S D P*

Hyperinsulinism, UCP2 related UCP2 2872 601693 S

Hyperlipidemia, familial combined, susceptibility to USF1 2408 191523 S

Hyperlipoproteinemia type 1 LPL 432 609708 S D P

Hyperlysinemia type 1 AASS 2775 605113 S

Hypermanganesemia with dystonia, polycythemia and cirrhosis SLC30A10 745 611146 S D P

Hypermethioninemia due to adenosine kinase deficiency ADK 2602 102750 S

Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome SLC25A15 2015 603861 S D H

Hyperoxaluria type 1 AGXT 433 604285 S D H P

Hyperoxaluria type 2 GRHPR 434 604296 S D H P

Hyperoxaluria type 3 HOGA1 1865 613597 S D P

Hyperoxaluria, SLC26A6 related SLC26A6 2267 610068 S

Hyperphenylalaninemia, BH4 deficient, type C QDPR 435 612676 S P

Hyperphenylalaninemia, BH4 deficient, type D PCBD1 2861 126090 S

Hyperphenylalaninemia, BH4-deficient, type A PTS 2501 612719 S D P

Hyperprolinemia type 1 PRODH 2864 606810 S

Hypertriglyceridemia, susceptibility to LIPI 2407 609252 S

Hypoaldosteronism congenital due to CMO I deficiency CYP11B2 79 124080 S D P

Hypoaldosteronism, congenital, due to CMO II deficiency CYP11B2 79 124080 S D P

Hypoalphalipoproteinemia APOA1 2106 107680 S D

Hypobetalipoproteinemia type 1 APOB 428 107730 S D P

Hypocalcemia, autosomal dominant 2 GNA11 2074 605573 S

Hypocalciuric hypercalcemia, familial type 3 AP2S1 2073 602242 S

Hypoglycemia of infancy, leucine-sensitive ABCC8 429 600509 S D P

Hypoinsulinemic hypoglycemia with hemihypertrophy AKT2 2782 164731 S

Hypomagnesemia type 1 TRPM6 2035 607009 S D P

Hypomagnesemia type 2 FXYD2 1581 601814 S

Hypomagnesemia type 3 CLDN16 1582 603959 S D P

Hypomagnesemia type 4 EGF 1946 131530 S D P

Hypomagnesemia type 5 CLDN19 1583 610036 S

Hypomagnesemia type 6 CNNM2 1890 607803 S D P

Hypophosphatasia, adult ALPL 2237 171760 S D P

Hypophosphatasia, childhood ALPL 2237 171760 S D P

Hypophosphatasia, infantile ALPL 2237 171760 S D P

Hypophosphatemic rickets with hypercalciuria SLC34A3 2649 609826 S D P

Hypophosphatemic rickets, autosomal dominant FGF23 1133 605380 S D P

Hypouricemia, renal type 1 SLC22A12 2295 607096 S

Hypouricemia, renal type 2 SLC2A9 2296 606142 S

Insulin-like growth factor resistance IGF1R 1725 147370 S D P

Isobutyryl-CoA dehydrogenase deficiency ACAD8 2777 604773 S

Isovaleric acidemia IVD 436 607036 S D P

Krabbe disease GALC 437 606890 S D H P

Krabbe disease, atypical PSAP 232 176801 S D P

L-2-hydroxyglutaric aciduria L2HGDH 438 609584 S D P




Lactase deficiency, congenital LCT 2852 603202 S

Lactate dehydrogenase-B deficiency LDHB 3154 150100 S

Lacticacidemia due to PDX1 deficiency PDHX 1396 608769 S D

Lactose intolerance, adult type MCM6 1930 601806 S

LCAD deficiency ACADL 1348 609576 S

LCAT DEFICIENCY LCAT 1962 606967 S D P

Leukocyte adhesion deficiency ITGB1 2220 135630 S

Leukocyte adhesion deficiency ITGB2 2221 600065 S

Lipodystrophy generalized type 1 AGPAT2 439 603100 S D H P

Lipodystrophy generalized type 2 BSCL2 440 606158 S D P*

Lipodystrophy generalized type 4 PTRF 2207 603198 S D P

Lipodystrophy type 2, familial partial LMNA 158 150330 S D P

Lipodystrophy, familial partial, type 3 PPARG 2566 601487 S D

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency HADHA 132 600890 S D P

Lung alpha-beta hydrolase deficiency type 1 ABHD1 1828 612195 S P

Lysosomal acid phosphatase deficiency ACP2 1883 171650 S

Malonyl-CoA decarboxylase deficiency MLYCD 2183 606761 S D P

Mannose-binding protein deficiency MBL2 441 154545 S D P

Mannosidosis, beta A, lysosomal-like MANBAL 2414 S

Mannosidosis-alpha MAN2B1 442 609458 S D P

Mannosidosis-beta MANBA 443 609489 S D P

Maple syrup urine disease type 1a BCKDHA 444 608348 S D P

Maple syrup urine disease type 1b BCKDHB 445 248611 S D P

Maple syrup urine disease type 2 DBT 446 248610 S D P

Maple syrup urine disease type 3 DLD 447 238331 S D P

Maple syrup urine disease, mild variant PPM1K 2413 611065 S

Maturity-onset diabetes of the young type 1 HNF4A 448 600281 S D P

Maturity-onset diabetes of the young type 2 GCK 430 138079 S D P

Maturity-onset diabetes of the young type 3 HNF1A 450 142410 S D P*

Maturity-onset diabetes of the young type 4 PDX1 451 600733 S D P

Maturity-onset diabetes of the young type 5 HNF1B 452 189907 S D P

Maturity-onset diabetes of the young type 6 NEUROD1 126 601724 S D P

Maturity-onset diabetes of the young type 7 KLF11 106 603301 S D P

Maturity-onset diabetes of the young type 8 CEL 107 114840 S D

Maturity-onset diabetes of the young type 9 PAX4 108 167413 S D P

Maturity-onset diabetes of the young type 10 INS 90 176730 S D P

Maturity-onset diabetes of the young type 11 BLK 1502 191305 S

Maturity-onset diabetes of the young, NKX2-2 related NKX2-2 1505 604612 S

Maturity-onset diabetes of the young, RFX6 related RFX6 1506 612659 S D P

Maturity-onset diabetes of the young, ZFP57 related ZFP57 1507 612192 S D P

Mediterranean fever MEFV 786 608107 S D P

MELAS syndrome, MT-TL1 related MT-TL1 1317 590050 S

Metachromatic Leukodystrophy ARSA 23 607574 S D P

Methylacetoacetic aciduria ACAT1 453 607809 S D P

Methylcobalamin deficiency CblG type MTR 173 156570 S H

Methylmalonate semialdehyde dehydrogenase deficiency ALDH6A1 2784 603178 S

Methylmalonic aciduria CblA type MMAA 456 607481 S

Methylmalonic aciduria CblB type MMAB 457 607568 S P

Methylmalonic aciduria CblC type MMACHC 458 609831 S D P

Methylmalonic aciduria CblD type MMADHC 454 611935 S D P

Methylmalonic aciduria CblF type LMBRD1 729 612625 S

Methylmalonic aciduria CblJ type ABCD4 1727 603214 S P

Methylmalonic aciduria CblR type CD320 1456 606475 S D P

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MUT 455 609058 S D P*

Methylmalonyl-CoA epimerase deficiency MCEE 2181 608419 S

Mevalonic aciduria MVK 1741 251170 S D P

Microvascular complications of diabetes type 1 VEGFA 1584 192240 S

Microvascular complications of diabetes type 6, susceptibility to SOD2 2416 147460 S

Mitchell-Riley syndrome RFX6 1506 612659 S D P

Mitochondrial complex III deficiency, nuclear type 7 UQCC2 2873 614461 S

Mitochondrial pyruvate carrier deficiency MPC1 2849 614738 S

Molybdenum cofactor deficiency type A MOCS1 1127 603707 S D P

Molybdenum cofactor deficiency type B MOCS2 949 603708 S D

Molybdenum cofactor deficiency type C GPHN 1567 603930 S D P

Monocarboxylate transporter 1 deficiency SLC16A1 2643 600682 S D P*




Mucolipidosis type 2 alpha/beta GNPTAB 130 607840 S D P

Mucolipidosis type 3 gamma GNPTG 1585 607838 S D

Mucolipidosis type 3 GNPTAB 130 607840 S D P

Mucolipidosis type 4 MCOLN1 459 605248 S D P

Mucopolysaccharidosis type 2 IDS 140 300823 S D P

Mucopolysaccharidosis type 3A SGSH 460 605270 S D P

Mucopolysaccharidosis type 3B NAGLU 461 609701 S D P

Mucopolysaccharidosis type 3C HGSNAT 462 610453 S D P

Mucopolysaccharidosis type 3D GNS 96 607664 S D P

Mucopolysaccharidosis type 4A GALNS 463 612222 S D P

Mucopolysaccharidosis type 4B GLB1 127 611458 S D P

Mucopolysaccharidosis type 6 ARSB 464 611542 S D P

Mucopolysaccharidosis type 7 GUSB 465 611499 S D P

Mucopolysaccharidosis type 9 HYAL1 466 607071 S

Mucopolysaccharidosis type IH IDUA 141 252800 S D P

Muscle glycogenosis PHKA1 1394 311870 S D

Myopathy due to myoadenylate deaminase deficiency AMPD1 467 102770 S D P

N-acetylglutamate synthase deficiency NAGS 468 608300 S D P

Neuraminidase deficiency NEU1 181 608272 S D P

Niemann-Pick disease type A/B SMPD1 469 607608 S D P

Niemann-Pick disease type C1 NPC1 189 607623 S D P

Niemann-Pick disease type C2 NPC2 470 601015 S D P

Odontohypophosphatasia ALPL 2237 171760 S D P

Ornithine transcarbamoylase deficiency OTC 206 300461 S D P

Orotic aciduria UMPS 471 613891 S D P

Pancreatic agenesis type 2 PTF1A 2865 607194 S D

Pancreatic and cerebellar agenesis PTF1A 2865 607194 S D

Pentosuria DCXR 1234 608347 S P

Periodic fever autosomal dominant TNFRSF1A 476 191190 S D P

Phenylketonuria PAH 1461 612349 S D P

Phenylketonuria modifier, SLC7A5 related SLC7A5 2648 600182 S

Phosphoenolpyruvate carboxykinase deficiency, cytosolic PCK1 2670 614168 S

Phosphoenolpyruvate carboxykinase deficiency, mitochondrial PCK2 2655 614095 S

Phosphoglycerate dehydrogenase deficiency PHGDH 669 606879 S D P

Phosphoribosylpyrophosphate synthetase superactivity PRPS1 231 311850 S D P

Phosphoserine aminotransferase deficiency PSAT1 1993 610936 S P

Phosphoserine phosphatase deficiency PSPH 1994 172480 S

Pituitary stalk interruption syndrome, GPR161 related GPR161 2503 S

Pompe disease GAA 405 606800 S D H P

Porphyria acute intermittent HMBS 478 609806 S D P

Porphyria congenital erythropoietic UROS 1980 606938 S D P

Porphyria variegata PPOX 2666 600923 S D

Prolidase deficiency PEPD 2206 613230 S H

Propionic acidemia PCCA 479 232000 S D P

Propionic acidemia PCCB 480 232050 S D P

Prosaposin deficiency PSAP 232 176801 S D P

Protoporphyria, erythropoietic, X-linked ALAS2 2783 301300 S

Pseudohermaphroditism with gynecomastia HSD17B3 2088 605573 S

Pyridoxamine 5'-phosphate oxidase deficiency PNPO 1586 603287 S D P

Pyruvate carboxylase deficiency PC 519 608786 S D P

Pyruvate dehydrogenase E1-alpha deficiency PDHA1 211 300502 S D P

Pyruvate dehydrogenase E1-beta deficiency PDHB 1395 179060 S D P

Pyruvate dehydrogenase E2 deficiency DLAT 1438 608770 S

Pyruvate dehydrogenase lipoic acid synthetase deficiency LIAS 2218 607031 S

Pyruvate dehydrogenase phosphatase deficiency PDP1 743 605993 S

Pyruvate kinase deficiency with hemolytic anemia PKLR 481 609712 S D P

Refsum disease PEX7 212 601757 S D P

Refsum disease PHYH 215 602026 S D P

Riboflavin deficiency SLC52A1 2867 607883 S

Rickets, vitamin D 25-hydroxylation-deficient, type 1B CYP2R1 2279 608713 S

Rickets, vitamin D dependent, type 1 CYP27B1 2959 609506 S

Saccharopinuria AASS 2775 605113 S

Sandhoff disease HEXB 133 606873 S D P

Sarcosinemia SARDH 2617 604455 S

Scheie syndrome IDUA 141 252800 S D P




Schindler disease NAGA 483 104170 S P

Serine hydrolase deficiency, SERHL2 related SERHL2 2308 S

Succinic semialdehyde dehydrogenase deficiency ALDH5A1 2266 610045 S

Succinyl CoA:3-oxoacid CoA transferase deficiency OXCT1 1762 601424 S D P

Sucrase-isomaltase deficiency SI 1808 609845 S D

Sulfatase deficiency SUMF1 285 607939 S D P

Sulfite oxidase deficiency SUOX 1821 606887 S D P

Surfactant metabolism dysfunction SFTPD 2056 178635 S

Surfactant metabolism dysfunction type 1 SFTPB 1810 178640 S D P

Surfactant metabolism dysfunction type 2 SFTPC 1811 178620 S D P

Surfactant metabolism dysfunction type 3 ABCA3 1812 601615 S D P

Surfactant metabolism dysfunction type 4 CSF2RA 1813 306250 S D P

Surfactant metabolism dysfunction type 5 CSF2RB 1814 138981 S P

Tangier disease ABCA1 2098 600046 S P

Tay-Sachs disease HEXA 484 606869 S D P

Tay-Sachs disease AB variant GM2A 485 613109 S D P

Thiamine metabolism dysfunction syndrome type 5 TPK1 1792 606370 S

TJP1 deficiency TJP1 2113 601009 S

TPMT deficiency TPMT 1475 187680 S D

Transaldolase deficiency TALDO1 1937 602063 S D P

Transcobalamin II deficiency TCN2 45 613441 S P

Trifunctional protein deficiency HADHA 132 600890 S D P

Trimethylaminuria FMO3 1763 136132 S D P

Triosephosphate isomerase deficiency TPI1 2902 190450 S

Tyrosine kinase 2 deficiency TYK2 2079 176941 S D P

Tyrosinemia type 1B GSTZ1 1876 603758 S D P*

Tyrosinemia type 1 FAH 486 613871 S D P

Tyrosinemia type 2 TAT 2230 613018 S D

Tyrosinemia type 3 HPD 2841 609695 S

Urbach-Wiethe disease ECM1 1896 602201 S

Von-Gierke disease G6PC 404 613742 S D P

Wilson disease ATP7B 26 606882 S D P

Wolman disease LIPA 489 613497 S D P

Xanthinuria type 1 XDH 1981 607633 S P


Rejection of sampleAll samples that are received without proper identification and where there is no possibility to correctly identify the specimen, have to be rejected. The referring physician will be notified and a new sample will need to be collected. In the case that no test is ordered or the order is unclear, we will accept a written order from the referring physician with a signed requisition.

Methods of sample preparation

Sample transportFiltercards, EDTA blood, cord blood & saliva: Samples can be sent via regular mail at room temperature. Liquid blood is stable for up to 4 days during transport.

Amniotic fluid: Min. 10ml samples placed into a sterile conical tube. These should be shipped overnight at room temperature. Care must be given that the samples do not freeze.

Chorionic villi, and any tissue samples:These specimens need to be shipped in a minimum of 35ml of RPMI transport medium with fetal calf serum at room temperature. The samples must be shipped in a manner to secure that the samples do not freeze (not below +4°C) especially during winter months.

Blood for ctDNA analysis:Blood sample must be sent in the glass STRECK tubes as per manufacturer’s recommendation. Samples must be shipped immediately after sampling and at no stage should be frozen. Blood samples collected in STRECK tubes can be shipped at room temperature as they are stable upto 14 days. Samples in glass STRECK tubes must be handled and shipped carefully to prevent any damage of the glass tubes during shipment.

› Sample size: 3-5ml › For newborns and small children

2ml is sufficient › Please note: when ordering

more than one panel, please contact CENTOGENE for exact requirements on final blood-EDTA volume

EDTA tube

› Sample size: 20mg

› Fresh frozen tissue shipped on dry ice

› Paraffin embedded tissue – 25-50mg of tissue or 5-10 micron sections (thick) in a sterile tube

Somatic Genomics› 5-10µm with marked area of enriched

tumor or tissue parraffin block for macrodissection (min. 50mg of tissue)

› Pathology report› Fixation type accepted:

10% Formalin or 4% Paraformaldehyde or Frozen tissue from OCT-Cell blocks - Fresh Frozen

Please do not send tissue fixed in Bouins

or gluteraldehyde. Ship in a sterile tube at room temperature - no cold pack required.

Tissue sample

› Sample size: 10ml

› Clear – no blood contamination

Amniotic fluid

› Sample size: 10 villi

› Cleaned in RPMI media with fetal calf serum (FCS)

Chorionic villi› Sample size: 3-5ml

› Please note: when ordering more than one panel, please contact CENTOGENE for exact requirement of sample volume

Cord blood

› Sample size: 50µl of EDTA blood per circle (circles completely saturated)

› 10-20 filled in circles, depending on the type of analysis ordered

› Please note: when ordering more than one or a large panel, please contact CENTOGENE for exact requirements on number of CentoCard®s.

Filtercard

› Sample size: 5µg (20µg in case of NGS panels)

› We accept purified DNA with a ratio of absorbance at 260 and 280nm (A260/280) in the range from 1.6 - 2.1.

Purified DNA

› Sample size: 10ml of blood shipped in cell-free DNA BCT STRECK tubes. Blood should not contain any other anti-coagulants or preservatives as this may cause coagulation.

ctDNA


Methods and procedures of genetic testing at CENTOGENE*

Diagnostic procedure

Investigates mutations that show an increased frequency in the population. There are different hotspot mutations based on the ethnicity/ancestry of each patient (as provided by physician).

Hotspot analysis

Identifies large deletions or duplications using MLPA or qPCR.Deletion/Duplication analysis

Full gene sequencing Analyzes the entire gene associated with a specific disorder.

Next generation sequencing panels

Examines a comprehensive group of genes for a particular disorder or population.

Whole exome sequencing (CentoXome®)

Identifies the molecular basis of a genetic disorder in an affected person by analyzing the total number of exons, the complete protein-coding capacity of the genome.

Measurement of enzyme activities for lysosomale storage disorders (e.g. Fabry, Gaucher, Pompe, MPS1) in dried blood spots via liquid chromatography tandem mass spectrometry (LC-MS/MS) or via fluorometric /spectrophotometric detection.

Enzyme assay for lysosomal storage disorders

Measurement of biomarker concentrations for Fabry disease (lyso-Gb3), Gaucher disease (lyso-Gb1) and Niemann-Pick disease (NPC-509 marker) in dried blood spots and EDTA plasma via liquid chromatography tandem mass spectrometry (LC-MS/MS).

Biomarker analysis for lysosomal storage disorders

* Not all methods are offered for all tests. Please contact CENTOGENE`s Department of Medical Quality and Counseling for details and/or in case of any questions.

› Contact Details Customer Service Tel.: +49 (0)381 80 113 - 416Fax: +49 (0)381 80 113 - [email protected] www.centogene.com

Please send your sample and the requisition form to:

CENTOGENE AG Am Strande 7 18055 Rostock, Germany

Analyzes mutations that are acquired after birth. These mutations are present only in a small fraction of cells and are frequently (though not always) associated with cancer.

Somatic mutationanalysis

Whole genome sequencing (CentoGenome®)

Reveals comprehensive information about the genetic composition of an individual, by exhaustively covering both protein-coding and non-coding regions.

Documents

Promo Code Genetic Diagnostics Code › ..... mutation description Page 1 V71.2_December2017 › The Terms & Conditions of CENTOGENE AG, which are available on apply to your order