Comprehensive Genetic Test Menu - · PDF file1 Genetic Test Menu Diagnostic Services Genetics Have confidence in our specialized genetic testing experience For over 40 years, Quest

Diagnostic ServicesGenetics

Comprehensive Genetic Test Menu

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Genetic Test Menu


Have confidence in our specialized genetic testing experience

For over 40 years, Quest Diagnostics has offered a comprehensive menu of advanced genetic tests. This testing is supported by our highly trained medical specialists and genetic counselors, who are experienced in clinical consultation. We lead the way in genetics through powerful diagnostic insights that take you to the forefront of testing, while meeting the needs of your busy practice.

We offer over 700 genetic tests, more than any other laboratory. This provides us with experience in reviewing both everyday and rare and difficult cases.

From prenatal to hereditary cancer screening to advanced neurological diagnostic testing, our genetic tests use the most advanced technologies available, including high-resolution chromosomal

microarray and next-generation sequencing. With the help of scientists at our leading-edge research facility, Nichols Institute, and our Lab of the Future in Marlborough, MA, we continually expand our portfolio of new and innovative tests. Quest Diagnostics, together with its subsidiary Athena Diagnostics, can provide all of your genetic testing needs.

We hope this comprehensive test menu is a helpful reference for you.

Call our team of genetic counselors at 866-GENE-INFO (866-436-3463) for specific test information or a clinical consultation. Information is also available online in our Test Center at QuestDiagnostics.com or by calling 866-MY-QUEST (866-697-8378).

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Part 1. Tests Offered by Quest Diagnostics Biochemical Genetics 3 Cytogenetics—General 4 Cytogenetics—Oncology-related 5 Molecular Genetics—Endocrinology 6 Molecular Genetics—Intellectual Disability/Autism 6 Molecular Genetics—Oncology 6 Molecular Genetics—Pharmacogenomics 7 Molecular Genetics—Prenatal/Reproductive 7 Molecular Genetics—Other 8 Other Genetic Tests 9

Part 2. Tests Offered by Athena Diagnostics Endocrinology 10 Nephrology 11 Neurology—Cerebrovascular Disorders 12 Neurology—Dementia 12 Neurology—Epilepsy 13 Neurology—Intellectual Disability/Autism 13 Neurology—Leukodystrophy 14 Neurology—Mitochondrial Disorders 14 Neurology—Motor Neuron Disorders 15 Neurology—Movement Disorders 15 Neurology—Neuromuscular Disorders 17 Neurology—Peripheral Neuropathy 18 Neurology—Other 19 Other Genetic Tests 19

Multiple test codes are available. Refer to the Quest Diagnostics Nichols Institute Directory of Services or the online Test Center (QuestDiagnostics.com) for test information.

Table of Contents

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Part 1. Tests Offered by Quest Diagnostics

Test

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Test Code Test Name

BIOCHEMICAL GENETICS

4929X Acetylcholinesterase

8284N Acetylcholinesterase and Fetal Hemoglobin

14531 Acylcarnitine, Plasma

17307X Alpha-1-Antitrypsin (AAT) Quantitation and Mutation Analysis1

91615 Alpha-Fetoprotein and Acetylcholinesterase, Amniotic Fluid w/rfl HbF

232Z Alpha-Fetoprotein, Amniotic Fluid with Reflex to AchE and Fetal Hgb

19779X Amino Acid Analysis for MSUD, LC/MS, Plasma

29881 Amino Acid Analysis, LC/MS, CSF

767X Amino Acid Analysis, LC/MS, Plasma

36183X Amino Acid Analysis, LC/MS, Urine

34694 Arylsulfatase A

70132X Biotinidase

16537X Biotinidase Activity with Reflex to Mutation Analysis1

70107X Carnitine, LC/MS/MS

15948X Carnitine, LC/MS/MS and Acylcarnitine

335 Cholinesterase, Plasma

338 Cholinesterase, RBC and Plasma

37965 Cholinesterase, Serum

39481 Cholinesterase, Serum, Plasma, RBC

7961 Cholinesterase, Serum, with Dibucaine Inhibition

14591Z Chromosome Analysis and AFP with Reflex to AchE, Fetal Hgb, Amniotic Fluid

10947X Cystine, 24-Hour Urine

401X Cystine, Quantitative, Random Urine

219 Delta Aminolevulinic Acid, 24-Hour Urine

6301 Delta Aminolevulinic Acid, Random Urine

19701X Disaccharidases

36208X Fetal Hemoglobin, Amniotic Fluid

16145 First Trimester Screen, hCG1

Includes PAPP-A, hCG, NT, Down syndrome risk, and interpretation.

Test Code Test Name

16020 First Trimester Screen, Hyperglycosylated hCG (h-hCG)1

Includes PAPP-A, h-hCG, NT, Down syndrome risk, and interpretation.

500 Glucose-6-Phosphate Dehydrogenase (G-6-PD), Quantitative

31789 Homocysteine (Cardiovascular)

36362 Homocysteine (Nutritional & Congenital)

16148 Integrated Screen, Part 11

Includes PAPP-A and NT.

16150 Integrated Screen, Part 21

Includes AFP; hCG; uE3; inhibin A; PAPP-A and NT from part 1; NTD, Down syndrome, and trisomy 18 risk; and interpretation.

5059 Maternal Serum AFPIncludes AFP, neural tube defect risk, and interpretation.

91003 Methylmalonic Acid and Homocysteine (Nutritional & Congenital)

91002 Methylmalonic Acid, GC/MS/MS

90561 Organic Acids, Full Panel, Quantitative, Urine

90404 Organic Acids, Qualitative, Urine

15934 Penta ScreenIncludes AFP; hCG; uE3; inhibin A; h-hCG; NTD, Down syndrome, and trisomy 18 risk; and interpretation.

37356 Phenylalanine

26336 Phenylalanine and Tyrosine

726 Porphobilinogen, Quantitative, 24-Hour Urine

6329 Porphobilinogen, Quantitative, Random Urine

5519 Porphyrins, Fractionated, Plasma

17198 Porphyrins, Fractionated, Quantitative and Porphobilinogen, 24-Hour Urine

729 Porphyrins, Fractionated, Quantitative, 24-Hour Urine

36592 Porphyrins, Fractionated, Quantitative, Random Urine

10290 Porphyrins, Total, Plasma

30294 Quad ScreenIncludes AFP; hCG; uE3; inhibin A; NTD, Down syndrome, and trisomy 18 risk; and interpretation.

16131 Sequential Integrated Screen, Part 11

Includes PAPP-A; hCG; NT; Down syndrome, and trisomy 18 risk; and interpretation.

Genetic Test Menu

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Test Code Test Name

16133 Sequential Integrated Screen, Part 21

Includes AFP; hCG; uE3; inhibin A; PAPP-A and NT from part 1; NTD, Down syndrome, and trisomy 18 risk; and interpretation.

16165 Serum Integrated Screen, Part 11

Includes PAPP-A.

16167 Serum Integrated Screen, Part 21

Includes AFP; hCG; uE3; inhibin A; PAPP-A from part 1; NTD, Down syndrome, and trisomy 18 risk; and interpretation.

90397 Steroid Panel, 21-Hydroxylase Deficiency/Stress1 (Panel components may be ordered separately.)Includes 17-hydroxyprogesterone (17180), androstenedione (17182), and cortisol (11281).

90392 Steroid Panel, Comprehensive1 (Panel components may be ordered separately.)Includes androstenedione (17182), corticosterone (6547X), cortisol (11281), cortisone (37098X), deoxycorticosterone (90973), 11-deoxycortisol (30543), DHEA (19894), 18-hydroxycorticosterone, 17-hydroxypregnenolone (8352), 17-hydroxyprogesterone (17180), pregnenolone (31493X), progesterone (17183), and total testosterone (15983).

90398 Steroid Panel, Congenital Adrenal Hyperplasia (CAH)1 (Panel components may be ordered separately.)Includes androstenedione (17182), cortisol (11281), deoxycorticosterone (90973), 11-deoxycortisol (30543), DHEA (19894), 17-hydroxypregnenolone (8352), 17-hydroxyprogesterone (17180), progesterone (17183), and total testosterone (15983).

90426 Steroid Panel, PCOS/CAH Differentiation1 (Panel components may be ordered separately.)Includes 11-deoxycortisol (30543), 17-hydroxyprogesterone (17180), androstenedione (17182), DHEA (19894), and total and free testosterone (36170).

7292 Triple ScreenIncludes AFP; hCG; uE3; NTD, Down syndrome, and trisomy 18 risk; and interpretation.

959 Tryptophan, LC/MS

902 Tyrosine

90559 Very Long Chain Fatty Acids

CYTOGENETICS—GENERAL

10225X Cell Culture for Possible Additional Prenatal Studies

91426 Chromosomal Microarray, Oncology, ClariSure® Oligo-SNP, FFPEUse this test code when a product of conception specimen is formalin fixed and paraffin embedded. Please call the lab before submitting specimen.

90929 Chromosomal Microarray, POC, ClariSure® Oligo-SNP

16478 Chromosomal Microarray, Postnatal, ClariSure® Oligo-SNP

Test Code Test Name

90927 Chromosomal Microarray, Prenatal, ClariSure® Oligo-SNP

14591Z Chromosome Analysis and AFP with Reflex to AchE, Fetal Hgb, Amniotic Fluid

14596 Chromosome Analysis, Blood

18980 Chromosome Analysis, Blood with Reflex to Postnatal ClariSure® Oligo-SNP Array3

14592X Chromosome Analysis, Chorionic Villus Sample

10708X Chromosome Analysis, Follow-up

14595X Chromosome Analysis, High Resolution

18983 Chromosome Analysis, High Resolution w/rfl to Postnatal ClariSure® Oligo-SNP Array

14597X Chromosome Analysis, Mosaicism

16843 Chromosome Analysis, Neonatal Blood

14599Z Chromosome Analysis, Sister Chromatid Exchange

14593X Chromosome Analysis, Tissue

91126 Chromosome Analysis, Tissue w/ Reflex to Microarray, ClariSure® Oligo-SNP

14590X Chromosomes Analysis, Amniotic Fluid

14598Z Chromosomes, DEB Assay for Fanconi Anemia

14608X FISH, Angelman2

40047 FISH, Chromosome-Specific Probe (x1), Follow-up Study2

37343X FISH, Chromosome-Specific Probe2 Choose one of the following: chromosome-specific (1-22, X and Y) centromere or chromosome-specific (1-22, X and Y) painting.

14614X FISH, Cri du chat2

14610X FISH, DiGeorge, Velocardiofacial (VCFS)2

19045X FISH, Duplication 15q11q132

16672X FISH, Duplication 22q11.22

14615X FISH, Kallmann2

14612X FISH, Miller-Dieker2

36053 FISH, Neonatal Screen2

Includes chromosomes 13, 18, 21, X, and Y.

14605X FISH, Prader Willi2

14604X FISH, Prenatal ScreenIncludes enumeration of chromosomes 13, 18, 21, X, and Y.

14611X FISH, Smith-Magenis2

14606X FISH, SRY/X Centromere2


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Test Code Test Name

14609X FISH, Williams2

14613X FISH, Wolf-Hirschhorn2

14607X FISH, X-Linked Ichthyosis Steroid Sulfatase Deficiency2

CYTOGENETICS—ONCOLOGY-RELATED

10107X Bladder Cancer, FISH

91027 Cervical Cancer, TERC, FISH2

90961 Chromosomal Microarray, Hematologic Malignancy, ClariSure® Oligo-SNP

91426 Chromosomal Microarray, Oncology, ClariSure® Oligo-SNP, FFPE

14601 Chromosome Analysis, CLL/LPD

14600X Chromosome Analysis, Hematologic Malignancy

14602X Chromosome Analysis, Lymph Node

14603X Chromosome Analysis, Solid Tumor

10969 ER/PR/DNA/HER2 w/Reflex to HER2 FISH, Paraffin Block

10970 ER/PR/HER2 w/Reflex to HER2 FISH, Paraffin Block

19856X FISH, ALL, +4, +10, +172

40050X FISH, ALL, Extended Panel2

Includes probes for the rearrangements 8q24(MYC), 9p21(p16;CDKN2A), 19p13.3(E2A:TCF3), t(12;21):TEL(ETV6)R, UNX1(AML1)fusion, 11q23(MLL), t(9;22)BCR/ABL1 fusion, 14q32(IGH), and numerical abnormalities of chromosomes 4, 10, and 17.

40052X FISH, ALL, Pre-B Panel2

Includes 11q (MLL), 4, 10, 17, t(9;22), and t(12;21).

90511 FISH, ALL, TCF3/PBX1, t(1;19)(q23.3;p13.3)2

14618X FISH, ALL, TEL/AML1 Translocation 12;212

14706X FISH, ALL/NHL, MYC-BA, 8q24 Rearrangement2

14617X FISH, AML M3, PML/RARA, Translocation 15;172

10106X FISH, AML, AML1/ETO Translocation 8;212

10635X FISH, AML, CBFB/MYH11, Inversion 162

16864 FISH, B-Cell Chronic Lymphocytic Leukemia Panel2

Includes selected markers for chromosomes 6, 11, 12, 13, and 17.

17348X FISH, B-Cell Malignancy, IGH, 14q32 Rearrangement2

17352X FISH, Burkitt's/NHL/ALL, IGH/MYC, t(8;14)2

10055X FISH, Chromosome 20q Deletion2

12070X FISH, CML/ALL, BCR/ABL Translocation 9;222

Test Code Test Name

19041X FISH, EGFR2

16112X FISH, Ewing/PNET, EWSR1, 22q12 Rearrangements2

90517 FISH, FGFR1, 8p11-122

17347X FISH, Follicular Lymphoma, IGH/BCL2, t(14;18)2

19859 FISH, HER-2/neu with Reflex to IHC

14620X FISH, HER-2/neu, Paraffin Block

16837 FISH, HES/Leukemia, 4q12 Rearrangement (FIP1L1-PDGFRA)2

91606 FISH, High-Grade Lymphoma Panel2

16593X FISH, Lymphoid Disorder MYB, del 6q232

40056X FISH, MALT Lymphoma, API2/MALT1, t(11;18)2

40053X FISH, MALT Lymphoma, MALT1, 18q21 Rearrangement2

40057X FISH, MALT Lymphoma, MALT1, rea18q21 with Reflex to API2/MALT1, t(11;18)2

17346X FISH, Mantle Cell Lymphoma, IGH/CCND1, t(11;14)2

19799X FISH, MDS/Myeloid Panel, -5/5q-, -7/7q-, +8, 20q2

91283 FISH, MET Amplification2

36055X FISH, MLL (11q23) Gene Rearrangement2

16077X FISH, Multiple Myeloma, 13q-, 17p-, rea 14q322

19619X FISH, Multiple Myeloma, Chromosomes 5,9,152

16872 FISH, Multiple Myeloma, IGH/FGFR3, t(4;14)2

16965 FISH, Multiple Myeloma, IGH/MAF, t(14;16)2

14621X FISH, MYCN Amplification, Neuroblastoma2

19722X FISH, Myeloma, 13q, 14q, 17p w/reflex to 5,9,152

90665 FISH, Myeloproliferative Neoplasms (Eosinophilia)2

16851 FISH, NHL, BCL6 3q27 Rearrangement2

16115X FISH, Oligodendroglioma, 1p/19q2

90510 FISH, PDGFRB, 5q33.12

16076 FISH, Prostate Cancer2

90513 FISH, T-cell Receptor alpha/delta, 14q11.22

90512 FISH, TCL1, 14q32.12

14619X FISH, X/Y, Post Opposite Sex Bone Marrow Transplant

15547 HER-2, IHC with Reflex to FISH

91028 Lung Cancer (NSCLC), ALK 2p23 Rearrangement, FISH

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Test Code Test Name

91836 Lung Cancer (NSCLC), ROS1 (6q22) Rearrangement, FISH

91216 Lung Cancer Mutation Panel (EGFR, KRAS, ALK)2

Includes epidermal growth factor receptor (EGFR) mutation analysis, KRAS mutation analysis, and ALK 2p23 rearrangement (FISH).

91427 Melanoma, Chromosomal Microarray, ClariSure® Oligo-SNP

MOLECULAR GENETICS—ENDOCRINOLOGY

91680 CAH (21-Hydroxylase Deficiency) Common Mutations, Fetal Cells

14755X CAH (21-Hydroxylase Deficiency) Common Mutations1

16072X CAH (21-Hydroxylase Deficiency) Rare Mutations1

36587X MEN2 and FMTC Mutations, Exons 10, 11, 13-161

16053X Resistance to Thyroid Hormone (RTH) Mutation Analysis1

MOLECULAR GENETICS— INTELLECTUAL DISABILITY/AUTISM

16300 Fragile X DNA Analysis, Fetus1

16612 HEXA Mutation Analysis, Gene Sequencing1

Includes sequencing of the entire coding region, the intron-exon splice sites, and the promoter region of the HEXA gene. Consider common mutation testing (Tay-Sachs Disease Mutation Analysis) prior to, or concurrently with, this test. Hexosaminidase testing should also be considered before or concurrently with this test.

90899 Mucolipidosis Type IV Mutation Analysis1

16152X Phenylketonuria (PKU) Mutation Analysis1

Phenylalanine testing should be considered before or concurrently with this test.

11369 Prader-Willi/Angelman Syndrome, DNA Methylation Analysis1

15088X Rett Syndrome Mutation Analysis1

16662 Rett Syndrome Rearrangement (Deletion or Duplication)1

90903 Tay-Sachs Disease Mutation Analysis1 Includes HEXA gene analysis for 1278insTATC, delta7.6kb, G269S, IVS9+1G>A, IVS12+1G>C, and R178H mutations and the R247W pseudodeficiency allele. Consider hexosaminidase testing before or concurrently with this test.

16326 XSense®, Fragile X with Reflex and Chromosome Analysis, Blood1

Includes a reflex to Southern blot when PCR result is either not normal or gray zone.

16313 XSense®, Fragile X with Reflex1


Test Code Test Name

MOLECULAR GENETICS—ONCOLOGY

16930 APC Gene Deletion or Duplication1

16934 APC Gene Sequencing1

91864 BRCAvantage™, Ashkenazi Jewish Screen

92140 BRCAvantage™, Ashkenazi Jewish Screen w/Reflex BRCAvantage™, Comprehensive

91863 BRCAvantage™, Comprehensive

91866 BRCAvantage™, Rearrangement

91865 BRCAvantage™, Single Site

91461 Lynch Syndrome Panel1

Includes mutation testing of MLH1, MSH2, MSH6, PMS2, and 3′-EPCAM deletion, using a blood specimen.

9133291333

Lynch Syndrome Tumor Panel, IHCIncludes MLH1, MSH2, MSH6, PMS2, and microsatellite instability.

14989X Lynch Syndrome, Microsatellite Instability (MSI)1

91584 Lynch Syndrome, MLH1 Familial Deletion/Duplication1

14984 Lynch Syndrome, MLH1 Familial Point Mutation1

91460 Lynch Syndrome, MLH1 Sequencing and Deletion/Duplication1

70196X16967

Lynch Syndrome, MLH1, IHC

91459 Lynch Syndrome, MSH2 Familial Deletion/Duplication (Including EPCAM)1

14981 Lynch Syndrome, MSH2 Familial Point Mutation1

91471 Lynch Syndrome, MSH2 Sequencing and Deletion/Duplication (Including EPCAM)1

70197X16971

Lynch Syndrome, MSH2, IHC

91230 Lynch Syndrome, MSH6 Familial Deletion/Duplication1

14983 Lynch Syndrome, MSH6 Familial Point Mutation1

91458 Lynch Syndrome, MSH6 Sequencing and Deletion/Duplication1

1693816252

Lynch Syndrome, MSH6, IHC

91463 Lynch Syndrome, PMS2 Familial Deletion/Duplication1

91457 Lynch Syndrome, PMS2 Sequencing and Deletion/Duplication1


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Test Code Test Name

1699716254

Lynch Syndrome, PMS2, IHC

36587X MEN2 and FMTC Mutations, Exons 10, 11, 13-161

MOLECULAR GENETICS— PHARMACOGENOMICS

16924 AccuType® CP, Clopidogrel CYP2C19 Genotype1

90251 AccuType® IL28B1

91416 AccuType® Ribavirin1

16160X AccuType® Warfarin1

16176X Beta2-Adrenergic Receptor Mutations1

16605 CYP2C19 Genotyping

11294X Cytochrome P450 2C9 Genotype1

10490 Cytochrome P450 2D6 Genotype1

17634X Cytochrome P450 2D6/2C19 Genotyping

15538X Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis1

16859 PDGFRA Mutation Analysis1

16897 PIK3CA Mutation Analysis1

16731 Tamoxifen P450 Genotyping

37742Z TPMT Genotype1

17813X UGT1A1 Gene Polymorphism (TA Repeat)1

16959 VEGF Polymorphism Analysis1

MOLECULAR GENETICS— PRENATAL/REPRODUCTIVE

16061X Achondroplasia Mutation Analysis1

91711 Alpha-Globin Common Mutation Analysis, Fetus

11175 Alpha-Globin Common Mutation Analysis1

16124X Alpha-Globin Gene Deletion or Duplication1

16116X Alpha-Globin Gene Sequencing

90891 Ashkenazi Jewish Panel (11 Tests)1

Includes mutations associated with Bloom syndrome, Canavan disease, cystic fibrosis, Gaucher disease, glycogen storage disease, familial dysautonomia, Fanconi anemia, MSUD Jewish mutation, mucolipodosis type IV, Niemann-Pick disease, and Tay-Sachs disease.

90994 Ashkenazi Jewish Panel (4 Tests)1

Includes mutations associated with Canavan disease, cystic fibrosis, familial dysautonomia, and Tay-Sachs disease.

91709 Beta-Globin Complete, Fetus

Test Code Test Name

14974 Beta-Globin Complete1

16346 Beta-Globin Gene Dosage Analysis1

90872 Bloom Syndrome DNA Mutation Analysis1

90905 Canavan Disease Mutation Analysis1

15053X CFTR Intron 8 Poly-T Analysis1

92068 CFvantage™ Cystic Fibrosis Expanded Screen1

10917X Cystic Fibrosis Complete Rare Mutation Analysis, Entire Gene Sequence1

15335X Cystic Fibrosis D1152H Mutation Analysis1

10226X Cystic Fibrosis DNA Analysis, Fetus

16080X Cystic Fibrosis Gene Deletion or Duplication2

17726X Cystic Fibrosis Mutation Screen with Reflex to CF Complete (Clinics Only)1

10913X Cystic Fibrosis Rare Mutation Analysis, One Exon2

10915X Cystic Fibrosis Rare Mutation Analysis, Two Exon2

10458 Cystic Fibrosis Screen

90912 Familial Dysautonomia Mutation Analysis1

16141X Familial Mediterranean Fever Mutation Analysis1

90897 Fanconi Anemia DNA Mutation Analysis1

16300 Fragile X DNA Analysis, Fetus1

90907 Gaucher Disease, DNA Mutation Analysis1

90915 Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish)1


Includes sequencing of the entire coding region, the intron-exon splice sites, and the promoter region of the HEXA gene. Common mutation testing (Tay-Sachs Disease Mutation Analysis) must be performed prior to, or concurrently with, this test. Hexosaminidase enzyme carrier screening should also be considered before or concurrently with this test.

90909 Maple Syrup Disease (MSUD) Mutation Analysis (Ashkenazi Jewish)1

92530 MaterniT21™ PLUS


90893 Niemann-Pick Disease Mutation Analysis1


90949 Prenatal Carrier Screen (CF, Fragile X, SMA)1

26382X Sickle Cell Anemia, DNA Probe Analysis, Fetus1

18041 SMA Carrier Screen1

16869 SMA Diagnostic Test1

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Test Code Test Name

90903 Tay-Sachs Disease Mutation Analysis1 Includes HEXA gene analysis for 1278insTATC, delta7.6kb, G269S, IVS9+1G>A, IVS12+1G>C, and R178H mutations and the R247W pseudodeficiency allele. Consider hexosaminidase enzyme carrier screening before or concurrently with this test.

16326 XSense®, Fragile X with Reflex and Chromosome Analysis, Blood1


16313 XSense®, Fragile X with Reflex1


MOLECULAR GENETICS—OTHER

16533X 19911A>G Mutation Analysis1

15340X Alpha-1 Antitrypsin (AAT) Mutation Analysis1

17307X Alpha-1-Antitrypsin (AAT) Quantitation and Mutation Analysis1

11175 Alpha-Globin Common Mutation Analysis1

16124X Alpha-Globin Gene Deletion or Duplication1

16116X Alpha-Globin Gene Sequencing

11210X Angiotensin Converting Enzyme (ACE) Polymorphism (Insertion/Deletion)1

11118X Angiotensin II Type 1 Receptor (AGTR1) Gene 1166A>C Polymorphism1

16182X Beta-fibrinogen -455G>A Mutation1

14974 Beta-Globin Complete1

16346 Beta-Globin Gene Dosage Analysis1

16537X Biotinidase Activity with Reflex to Mutation Analysis1

16526X Biotinidase Deficiency Mutation Analysis1

15053X CFTR Intron 8 Poly-T Analysis1

38956X CKR-5 Gene, DNA Mutation Analysis

17904 Factor V (Leiden) Mutation Analysis w/Reflex to HR2 Mutation Analysis2

17900 Factor V (Leiden) Mutation Analysis2

10905 Factor V HR2 Allele DNA Mutation Analysis1 Invader® assay/signal amplification.

17902X Factor V HR2 Allele DNA Mutation Analysis2

16023X Factor XI Mutation Analysis (Ashkenazi Jewish)1

16613X Galactosemia Mutation Analysis1

90828 Hemophilia A (Factor VIII) Inversions1

Test Code Test Name

35079 Hereditary Hemochromatosis DNA Mutation Analysis1


Includes sequencing of the entire coding region, the intron-exon splice sites, and the promoter region of the HEXA gene. Consider common mutation testing (Tay-Sachs Disease Mutation Analysis) prior to, or concurrently with, this test. Hexosaminidase testing should also be considered before or concurrently with this test.

10247X Huntington Disease Mutation Analysis1

11244 Long Chain Acyl-CoA Dehydrogenase (LCHAD) Mutation Analysis1

16155X Macular Degeneration Mutation Analysis1

90909 Maple Syrup Disease (MSUD) Mutation Analysis (Ashkenazi Jewish)1

91284 Medium Chain Acyl-CoA Dehydrogenase (MCAD) Gene Sequencing1

11176X Medium Chain Acyl-CoA Dehydrogenase (MCAD) Mutation Analysis1

17911 Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis2


90893 Niemann-Pick Disease Mutation Analysis1


11368 Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G1

17909 Prothrombin (Factor II) 20210G>A Mutation Analysis2

90903 Tay-Sachs Disease Mutation Analysis1 Includes HEXA gene analysis for 1278insTATC, delta7.6kb, G269S, IVS9+1G>A, IVS12+1G>C, and R178H mutations and the R247W pseudodeficiency allele. Consider hexosaminidase testing before or concurrently with this test.

17907X Thrombophilia DNA Mutation Analysis2

Includes factor V (Leiden) and prothrombin (factor II) 20210G>A mutation analyses.

11126 Thrombophilia Mutation Analysis with Reflex to HR2 Mutation Analysis2

Includes factor V (Leiden) and prothrombin (factor II) 20210G>A mutation analyses with reflex to factor V HR2 mutation analysis.

11327 Thrombophilia Screen II, Inherited2 (Panel components may be ordered separately.)Includes antithrombin III activity (216), factor V (Leiden) mutation with reflex to factor V HR2 mutation (17904), protein C activity (1777), free protein S (10170), and prothrombin (factor II) 20210G>A mutation (17909).

17813X UGT1A1 Gene Polymorphism (TA Repeat)1

19837X von Willebrand Disease Mutation Analysis1

14679Z Y Chromosome Microdeletion, DNA Analysis3


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Test Code Test Name

10262 Maternal Cell Contamination Study, STR Analysis3

825 Sickle Cell Screen

37679X Sickle Cell Screen with Reflex to Hemoglobinopathy Evaluation

10556X Twin Zygosity3

1This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. Performance characteristics refer to the analytical performance of the test.2This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test.3This test is performed using a kit that has not been approved or cleared by the FDA. The analytical performance characteristics of this test have been determined by Quest Diagnostics Nichols Institute. This test should not be used for diagnosis without confirmation by other medically established means.

Reflex tests are performed at an additional charge.

Test Code Test Name

OTHER GENETIC TESTS

513X Fetal Hemoglobin, Whole Blood

511X Hemoglobin A2, Quantitative

31852X Hemoglobin S, Quantitative

35489 Hemoglobinopathy EvaluationIncludes hemoglobin A, A2, F, and any variants (eg, C, E, S), RBC count, hemoglobin, hematocrit, MCV, MCH, and RDW.

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Test Code Test Name

ENDOCRINOLOGY

827 ABCC8 (CH) DNA Sequencing

876 ABCC8 (NDM) DNA Sequencing

815 ABCD1 (Adrenoleukodystrophy) DNA Sequencing

6108 ABCD1 (Neurology) DNA Sequencing

462 Anosmic Kallmann/IHH EvaluationIncludes sequencing of the FGF8, FGFR1, GNRHR, KAL1, KISS1R, PROK2, and PROKR2 genes.

893 APOB Mutation Analysis

852 AQP2 (Nephrogenic Diabetes Insipidus) DNA Sequencing

812 Autoimmune Polyglandular Syndrome (AIRE) Evaluation

887 Bardet-Biedl Syndrome EvaluationIncludes sequencing of the BBS1, BBS2, and BBS10 genes.

871 BBS1 (BBS) DNA Sequencing



837 CEL (MODY8) Mutation Analysis

461 CHD7 DNA Sequencing

861 COL1A1 (OI) DNA Sequencing

862 COL1A2 (OI) DNA Sequencing

865 Combined Pituitary Hormone Deficiency EvaluationIncludes sequencing of the POU1F1 and PROP1 genes.

679 Complete Kallmann/IHH EvaluationIncludes sequencing of the CHD7, FGF8, FGFR1, GNRHR, GNRH1, KAL1, KISS1R, PROK2, PROKR2, and TACR3 genes.

879 Congenital Adrenal Hyperplasia (CAH) EvaluationIncludes sequencing and deletion analysis of CYP21A2 and sequencing of CYP11B1.

819 Congenital Hyperinsulinism EvaluationIncludes sequencing of the ABCC8, GCK, GLUD1, and KCNJ11 genes.

875 CYP11B1 (CAH) DNA Sequencing TestIncludes sequencing and analysis for the 30kb deletion.

774 CYP11B1 DNA Sequencing TestIncludes sequencing of the CYP11B1 gene.

877 CYP17A1 DNA Sequencing Test

Test Code Test Name

880 CYP21A2 (CAH) EvaluationIncludes sequencing and analysis for the 30kb deletion.

883 Early Onset Obesity (LEPR) DNA Sequencing

640 Early Onset Obesity (MC4R) DNA Sequencing

884 Early Onset Obesity EvaluationIncludes sequencing of the LEPR and MC4R genes.

881 Endocrine Hypertension (HSD11B2) EvaluationIncludes sequencing of the HSD11B2 gene.

829 Familial Hypocalciuric Hypercalcemia (CASR) DNA Sequencing

856 FGF23 (Hypophosphatemic Rickets) DNA Sequencing

195 FGF8 DNA Sequencing

196 FGFR1 DNA Sequencing

823 GCK (CH) DNA Sequencing

803 GCK (MODY2) DNA Sequencing and Deletion

842 GCK (NDM) DNA Sequencing

866 GH1 (GHD) DNA Sequencing

867 GHR DNA Sequencing

868 GHRHR (GHD) DNA Sequencing

822 GLUD1 (CH) DNA Sequencing

343 GNRH1 DNA Sequencing

279 GNRHR DNA Sequencing

848 Growth Hormone Deficiency EvaluationIncludes sequencing of the GH1, GHRHR, and SHOX genes and detection of deletions in the SHOX gene.

802 HNF4A (MODY1) DNA Sequencing and Deletion

775 HSD11B2 DNA Sequencing

878 HSD3B2 DNA Sequencing Test

895 Hypercholesterolemia EvaluationIncludes sequencing of the APOB and LDLR genes.

857 Hypophosphatemic Rickets EvaluationIncludes sequencing of the FGF23 and PHEX genes.

853 INS (NDM) DNA Sequencing

834 IPF1 (MODY4) DNA Sequencing Test

841 IPF1 (NDM) DNA Sequencing

173 KAL1 DNA Sequencing

Genetic Test Menu

Part 2. Tests Offered by Athena Diagnostics

11

Test Code Test Name

826 KCNJ11 (CH) DNA Sequencing

843 KCNJ11 (NDM) DNA Sequencing

364 KISS1R DNA Sequencing

664 KRAS DNA Sequencing

658 KRAS/RAF1/SOS1 DNA Sequencing Evaluation

894 LDLR (Hypercholesterolemia) DNA Sequencing

747 Liddle's Syndrome EvaluationIncludes sequencing of the SCNN1B and SCNN1G genes.

874 Lipoid CAH (StAR) EvaluationIncludes sequencing of the StAR gene.

821 LRP5 (Idiopathic Osteoporosis [IOP]) DNA Sequencing

811 LRP5 (OPPG) DNA Sequencing

817 Male Precocious Puberty (LHCGR) DNA Sequencing

818 MEN1 (MEN1) DNA Sequencing

813 MEN2 (RET) DNA Sequencing

885 Monogenic Diabetes (MODY) EvaluationIncludes detection of mutations and deletions in the GCK, HNF1A (TCF1), HNF4A, and HNF1B (TCF2) genes and mutations in the IPF1 gene.

749 Monogenic Hypertension EvaluationIncludes sequencing of the CYP11B1, HSD11B2, SCNN1B, and SCNN1G genes.

882 Neonatal Diabetes Mellitus EvaluationIncludes sequencing of the ABCC8, GCK, INS, IPF1, and KCNJ11 genes.

851 Nephrogenic Diabetes Insipidus (AVPR2) DNA Sequencing

854 Nephrogenic Diabetes Insipidus EvaluationIncludes sequencing of the AQP2 and AVPR2 genes.

846 Noonan Syndrome (PTPN11) DNA Sequencing

667 Normosmic Kallmann/IHH EvaluationIncludes sequencing of the FGFR1, GNRHR, GNRH1, KISS1R, PROK2, PROKR2, and TACR3 genes.

814 NR0B1 (Adrenal Hypoplasia Congenita) DNA Sequencing

860 Osteogenesis Imperfecta EvaluationIncludes sequencing of the COL1A1 and COL1A2 genes.

889 Pheochromocytoma EvaluationIncludes sequencing of the RET, SDHB, and VHL genes.

Test Code Test Name

855 PHEX (Hypophosphatemic Rickets) DNA Sequencing

864 POU1F1 (CPHD) DNA Sequencing

816 Primary Adrenal Insufficiency EvaluationIncludes sequencing of the ABCD1, AIRE, and NR0B1 genes.

175 PROK2 DNA Sequencing

180 PROKR2 DNA Sequencing

863 PROP1 (CPHD) DNA Sequencing

748 Pseudohypoaldosteronism Type 1 EvaluationIncludes sequencing of the SCNN1A, SCNN1B, and SCNN1G genes.

663 RAF1 DNA Sequencing

772 SCNN1A DNA Sequencing

745 SCNN1B DNA Sequencing

746 SCNN1G DNA Sequencing

888 SDHB DNA Sequencing

847 SHOX (GHD) DNA Sequencing and Deletion

662 SOS1 DNA Sequencing

358 TACR3 DNA Sequencing

804 TCF1 (MODY3) DNA Sequencing and Deletion

805 TCF2 (MODY5) DNA Sequencing and Deletion

858 Von Hippel-Lindau Syndrome (VHL) EvaluationIncludes sequencing of the VHL gene.

NEPHROLOGY

711 ACTN4 DNA Sequencing

765 BSND DNA Sequencing

825 CASR DNA Sequencing

764 CLCNKB DNA Sequencing

757 COL4A3 DNA Sequencing


756 COL4A5 Deletion Analysis

755 COL4A5 Sequencing and Deletion Analysis

759 Complete Alport Syndrome EvaluationIncludes sequencing of the COL4A3, COL4A4, and COL4A5 genes and detection of deletions in COL4A5.

12

Test Code Test Name

761 Complete PKD EvaluationIncludes sequencing of the PKD1 and PKD2 genes and detection of deletions in both genes.

779 CYP11B1/2 DNA Chimeric Gene Fusion

722 Early Onset Nephrotic Syndrome EvaluationIncludes sequencing of the LAMB2, NPHS1, NPHS2, PLCE1, and WT1 genes.

770 Hereditary Interstitial Kidney DiseaseIncludes sequencing of the UMOD gene.

767 Hereditary Renal Tubular Disorders EvaluationIncludes sequencing of the BSND, CLCNKB, KCNJ1, SLC12A1, and SLC12A3 genes.

776 HNF1B DNA Sequencing and Deletion Evaluation

775 HSD11B2 DNA Sequencing

716 INF2 (FSGS) DNA Sequencing

717 Inherited Focal and Segmental Glomerulosclerosis (FSGS) EvaluationIncludes sequencing of the ACTN4, INF2, NPHS2, and TRPC6 genes.

763 KCNJ1 DNA Sequencing

714 LAMB2 DNA Sequencing

747 Liddle's Syndrome EvaluationIncludes sequencing of the SCNN1B and SCNN1G genes.

750 NPH1 (FJN) Molecular AnalysisIncludes detection of homozygous deletions in the NPHP1 gene.

730 NPHS1 (Nephrin) Sequencing Analysis

710 NPHS2 (Podocin) Sequencing Analysis

760 PKD Deletion AnalysisIncludes detection of deletions in the PKD1 and PKD2 genes.

728 PKDx® Familial Mutation EvaluationIncludes detection of the familial polycystic kidney disease mutation only.

725 PKDx® Sequencing AnalysisIncludes sequencing of the PKD1 and PKD2 genes.

718 PLCE1 DNA Sequencing

748 Pseudohypoaldosteronism Type 1 EvaluationIncludes sequencing of the SCNN1A, SCNN1B, and SCNN1G genes.

772 SCNN1A DNA Sequencing

745 SCNN1B DNA Sequencing

746 SCNN1G DNA Sequencing

762 SLC12A1 DNA Sequencing

766 SLC12A3 DNA Sequencing

712 TRPC6 DNA Sequencing

713 WT1 DNA Sequencing

Test Code Test Name

NEUROLOGY—CEREBROVASCULAR DISORDERS

685 CCM2 Deletion Analysis

684 CCM2 DNA Sequencing

686 CCM2 EvaluationIncludes sequencing and deletion analysis of the CCM2 gene.

424 COL4A1 DNA Sequencing Test (CSVD)

421 Complete CADASIL EvaluationIncludes sequencing of the NOTCH3 gene.

692 Complete Cerebral Cavernous Malformation (CCM) EvaluationIncludes sequencing and deletion analysis of the CCM2, KRIT1, and PDCD10 genes.

442 HTRA1 DNA Sequencing Test (CARASIL)

682 KRIT1 (CCM1) Deletion Analysis

681 KRIT1 (CCM1) DNA Sequencing

683 KRIT1 (CCM1) EvaluationIncludes sequencing and deletion analysis of the KRIT1 gene.

688 PDCD10 (CCM3) Deletion Analysis

687 PDCD10 (CCM3) DNA Sequencing

689 PDCD10 (CCM3) EvaluationIncludes sequencing and deletion analysis of the PDCD10 gene.

NEUROLOGY—DEMENTIA

178 ADmark® Alzheimer's EvaluationIncludes APOE genotyping and concentrations of phosphorylated tau protein, total tau protein, and β-amyloid 42.

109 ADmark® APOE Genotype Analysis and Interpretation (Symptomatic)

168 ADmark® APP DNA Sequencing/Duplication

179 ADmark® Early Onset Alzheimer's EvaluationIncludes sequencing of the APP, PS-1 (PSEN1), and PS-2 (PSEN2) genes and detection of duplications in the APP gene.

177 ADmark® Phospho-Tau/Total-Tau/Ab42 CSF Analysis and Interpretation (Symptomatic)

167 ADmark® PS-1 DNA Sequencing

169 ADmark® PS-2 DNA Sequencing

209 C9orf72 (FTD) DNA

281 Frontotemporal Dementia EvaluationIncludes sequencing of GRN and MAPT genes and detection of expansions in the C9orf72 gene.

204 GRN DNA Sequencing

205 MAPT DNA Sequencing


13

Test Code Test Name

NEUROLOGY—EPILEPSY

549 Alexander Disease (GFAP) DNA Sequencing

141 ARX DNA Sequencing

065 ARX Duplication/Deletion (Epilepsy)

797 ARX Evaluation (Epilepsy)Includes sequencing and duplication/deletion analysis of the ARX gene.

067 CDKL5 Duplication/Deletion (Epilepsy)

799 CDKL5 Evaluation (Epilepsy)Includes sequencing and analysis for duplications and deletions in the CDKL5 gene.

573 Complete SCN1A EvaluationIncludes sequencing and deletion analysis of the SCN1A gene.

556 Complete Tuberous Sclerosis EvaluationIncludes sequencing and deletion analysis of the TSC1 and TSC2 genes.

674 CSTB (EPM1) EvaluationIncludes sequencing and detection of expansions in the CSTB (EPM1) gene.

5006 Epilepsy Advanced Sequencing Evaluation—Epilepsy with MigraineIncludes sequencing of 7 genes: ATP1A2, CACNA1A, NOTCH3, POLG, PRRT2, SCN1A, and SLC2A1.

5000 Epilepsy Advanced Sequencing EvaluationIncludes sequencing of 141 genes: ALDH7A1, ARFGEF2, ARHGEF9, ARX, ATP1A2, ATP2A2, ATP6AP2, ATP6V0A2, ATRX, CACNA1A, CASK, CASR, CCDC88C, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLCNKA, CLCNKB, CLN3, CLN5, CLN6, CLN8, CNTNAP2, VPS13B, COL18A1, COL4A1, CPT2, CSTB, CTSD, CUL4B, OFD1, DCX, DEPDC5, DNAJC5, EFHC1, EMX2, EPM2A, FGD1, FGFR3, FKRP, FKTN, FLNA, FOXG1, GABRA1, GABRB3, GABRD, GABRG2, GPC3, GPR56, GRIA3, GRIN2A, HSD17B10, KDM5C, KCNA1, KCNJ1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA1279, LAMA2, LARGE, LBR, LGI1, MBD5, ME2, MECP2, MEF2C, MFSD8, MLL2, NHLRC1, NIPBL, NOTCH3, NRXN1, OPHN1, PAFAH1B1, PAK3, PANK2, PAX6, PCDH19, PEX7, PHF6, SERPINI1, PIGV, PLA2G6, PLP1, PNKP, POLG, POMGNT1, POMT1, POMT2, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRRT2, RAB39B, RAB3GAP1, RAI1, RELN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SETBP1, SLC25A22, SLC2A1, SLC4A10, SLC9A6, SMC1A, SMC3, SMS, SNAP29, SPTAN1, SRPX2, STXBP1, SYNGAP1, SYP, TBC1D24, TBX1, TCF4, TPP1, TREX1, TSC1, TSC2, TUBA1A, TUBA8, TUBB2B, UBE3A, VPS13A, WDR62, and ZEB2.

5004 Epilepsy Advanced Sequencing Evaluation—Epilepsy in X-Linked Intellectual DisabilityIncludes sequencing of 27 genes: ARHGEF9, ARX, ATP6AP2, ATRX, CASK, CDKL5, CUL4B, DCX, FGD1, GPC3, GRIA3, HSD17B10, KDM5C, MECP2, OFD1, OPHN1, PAK3, PCDH19, PHF6, PLP1, PQBP1, RAB39B, SLC9A6, SMC1A, SMS, SRPX2, and SYP.

5002 Epilepsy Advanced Sequencing Evaluation—Epileptic EncephalopathiesIncludes sequencing of 31 genes: ARHGEF9, ARX, CDKL5, CNTNAP2, FOXG1, GABRG2, GRIN2A, KCNT1, MECP2, NRXN1, PCDH19, PNKP, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, and ZEB2.

Test Code Test Name

5001 Epilepsy Advanced Sequencing Evaluation—Generalized, Absence, Focal, and Myoclonic EpilepsiesIncludes sequencing of 36 genes: ALDH7A1, CACNA1A, CASR, CHRNA2, CHRNA4, CHRNB2, CSTB, DEPDC5, EFHC1, EPM2A, GABRA1, GABRB3, GABRD, GABRG2, GRIN2A, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MBD5, ME2, NHLRC1, PCDH19, PRICKLE1, PRICKLE2, PRRT2, SCARB2, SCN1A, SCN1B, SCN2A, SCN9A, SLC2A1, SLC4A10, and TBC1D24.

5008 Epilepsy Advanced Sequencing Evaluation—Infantile SpasmsIncludes sequencing of 10 genes: ARX, CDKL5, FOXG1, GABRB3, GRIN2A, MEF2C, SCN2A, SLC25A22, SPTAN1, and STXBP1.

5005 Epilepsy Advanced Sequencing Evaluation—Neuronal Ceroid LipofuscinosisIncludes sequencing of 10 genes: CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, KCTD7, MFSD8, PPT1, and TPP1.

5003 Epilepsy Advanced Sequencing Evaluation—Neuronal Migration DisordersIncludes sequencing of 29 genes: ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, FGFR3, FKRP, FKTN, FLNA, GPR56, LAMA2, LARGE, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB3GAP1, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, and WDR62.

5007 Epilepsy Advanced Sequencing Evaluation—Syndromic DisordersIncludes sequencing of 26 genes: ATP2A2, ATP6V0A2, CCDC88C, CLCNKA, CLCNKB, VPS13B, KCNA1, KCNJ1, KCNJ10, KIAA1279, LBR, LGI1, MLL2, NIPBL, PANK2, SERPINI1, PIGV, PLA2G6, RAI1, SETBP1, SMC3, SYNGAP1, TBX1, TSC1, TSC2, and VPS13A.

410 EPM1 DNAIncludes detection of dodecamer expansions in the CSTB gene.

518 MERRF mtDNA EvaluationIncludes detection of a point mutation in each of the MT-TH, MT-TK, MT-TL1, MT-TS1 genes in mitochondrial DNA.

443 POLG DNA Sequencing (Alpers' Syndrome)

537 SCN1A Deletion

523 TSC Familial Mutation EvaluationIncludes detection of the familial tuberous sclerosis mutation only.

508 TSC1 Deletion Analysis

521 TSC1 DNA Sequencing

524 TSC2 DNA Deletion

522 TSC2 DNA Sequencing

NEUROLOGY—INTELLECTUAL DISABILITY/ AUTISM

790 AHI1 DNA Sequencing (Joubert Syndrome)

141 ARX DNA Sequencing

041 ARX Duplication/Deletion (Intellectual Disability)

14

Test Code Test Name

773 ARX Evaluation (Intellectual Disability)Includes sequencing and duplication/deletion analysis of the ARX gene.

784 ASPM DNA Sequencing

794 CC2D2A DNA Sequencing (Joubert Syndrome)

149 CDKL5 DNA Sequencing

049 CDKL5 Duplication/Deletion (Intellectual Disability)

785 CDKL5 EvaluationIncludes sequencing and duplication/deletion analysis of the CDKL5 gene.

791 CEP290 DNA Sequencing Test (Joubert Syndrome)

729 Cohen Syndrome (COH1) DNA Sequencing

153 Complete Rett Syndrome EvaluationIncludes sequencing and duplication/deletion analysis of the MECP2 gene.

074 FOXG1 Deletion

740 FOXG1 DNA Sequencing

7410 FOXG1 EvaluationIncludes sequencing and deletion analysis of the FOXG1 gene.

795 Joubert Syndrome EvaluationIncludes sequencing of the AHI1, CC2D2A, CEP290, TMEM67, and TMEM216 genes and deletion analysis of the NPHP1 gene.

786 MCPH1 DNA Sequencing

077 MEF2C Deletion

754 MEF2C DNA Sequencing

7540 MEF2C EvaluationIncludes sequencing and deletion analysis of the MEF2C gene.

793 NPHP1 Deletion (Joubert Syndrome)

788 Primary Microcephaly EvaluationIncludes sequencing of the ASPM, MCPH1, and WDR62 genes.

744 PTEN DNA Sequencing

142 Rett Syndrome (MECP2) DNA Sequencing

148 Rett Syndrome (MECP2) Duplication/Deletion Analysis

724 SHANK2 DNA Sequencing

742 SHANK3 DNA Sequencing

737 Smith-Lemli-Opitz Syndrome (DHCR7) DNA Sequencing

771 SYNGAP1 DNA Sequencing

789 TMEM216 DNA Sequencing (Joubert Syndrome)

792 TMEM67 DNA Sequencing (Joubert Syndrome)

787 WDR62 DNA Sequencing

Test Code Test Name

NEUROLOGY—LEUKODYSTROPHY

815 ABCD1 (Adrenoleukodystrophy) DNA Sequencing

6108 ABCD1 (Neurology) DNA Sequencing

6107 ARSA DNA Sequencing

6101 EIF2B1 DNA Sequencing





6109 GJC2 DNA Sequencing

6106 Leukoencephalopathy with Vanishing White MatterIncludes sequencing of the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes.

6112 PLP1 DNA Sequencing

6111 PLP1 Duplication

6110 PLP1 EvaluationIncludes sequencing and duplication analysis of the PLP1 gene.

NEUROLOGY—MITOCHONDRIAL DISORDERS

466 ANT1 (SLC25A4) DNA Sequencing (related to mtDNA depletion)

575 Common Mitochondrial Disorders EvaluationIncludes restriction fragment polymorphism analysis of the MT-ATP6, MT-ND1, MT-ND5, MT-TH, MT-TK, MT-TL1, MT-TS1, and MT-TV genes and sequencing of the POLG gene.

487 DGUOK DNA Sequencing (related to mtDNA depletion)

517 MELAS mtDNA EvaluationIncludes restriction fragment polymorphism analysis of the MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV genes.

579 Mitochondrial Encephalomyopathic EvaluationIncludes sequencing of the POLG, RRM2B, and TK2 genes.

578 Mitochondrial Hepatoencephalopathic EvaluationIncludes sequencing of the DGUOK, MPV17, POLG, TWINKLE (PEO1/C10orf2) genes.

577 Mitochondrial Neurogastrointestinal Encephalopathy Evaluation (MNGIE)Includes sequencing of the RRM2B and TYMP genes and restriction fragment polymorphism analysis of the MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV genes.

488 MPV17 DNA Sequencing (related to mtDNA depletion)

469 OPA1 DNA Sequencing (related to mtDNA depletion)

824 PDHA1 DNA Sequencing


15

Test Code Test Name

474 POLG DNA Sequencing (related to all allelic disorders)

576 Progressive External Ophthalmoplegia EvaluationIncludes sequencing of the ANT1 (SCL25A4), OPA1, POLG, TWINKLE (PEO1/C10orf2) genes and restriction fragment polymorphism analysis of the MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV genes.

486 RRM2B DNA Sequencing (related to mtDNA depletion)

489 TK2 DNA Sequencing (related to mtDNA depletion)

479 TWINKLE (PEO1/C10orf2) DNA Sequencing (related to mtDNA depletion)

484 TYMP DNA Sequencing Test (related to mtDNA depletion)

NEUROLOGY—MOTOR NEURON DISORDERS

622 ANG DNA Sequencing

531 Atlastin (SPG3A) DNA Sequencing

653 Autosomal Dominant Hereditary Spastic Paraplegia EvaluationIncludes detection of mutations in the SPG3A, SPG4, NIPA1 (SPG6), KIAA0196 (SPG8), KIF5A (SPG10), REEP1 (SPG31), and BSCL2 (SPG17) genes.

654 Autosomal Recessive Hereditary Spastic Paraplegia EvaluationIncludes sequencing of the CYP7B1 (SPG5A), SPG7, SPG11, and SPG15 genes.

631 BSCL2 DNA Sequencing

670 C9orf72 DNAIncludes analysis for repeat expansions in the C9orf72 gene.

643 Complete ALS EvaluationIncludes sequencing of the ANG, FIG4, FUS, OPTN, SOD1, TARDBP, UBQLN2, and VCP genes and analysis for repeat expansions in the C9orf72 gene.

655 Complete Hereditary Spastic Paraplegia EvaluationIncludes sequencing of the SPG3A, SPG4, CYP7B1 (SPG5A), NIPA1 (SPG6), SPG7, KIAA0196 (SPG8), KIF5A (SPG10), SPG11, SPG15, BSCL2 (SPG17), and SPG31 genes and analysis for deletions in the SPG4 and REEP1 (SPG31) genes.

215 Complete SMA Evaluation (Reflexive)Includes deletion analysis of the SMN1 and SMN2 genes. If the results are not diagnostic of SMA, sequencing of the SMN1 and SMN2 genes will be done at an additional charge. If still not diagnostic, IGHMB2 and UBE1 sequencing will be done at an additional charge.

612 CYP7B1 (SPG5A) DNA Sequencing

620 Familial Amyotrophic Lateral Sclerosis (SOD1) DNA

619 FUS DNA Sequencing

117 Kennedy's Disease (SBMA) DNAIncludes detection of CAG triplet repeats in the AR gene.

Test Code Test Name

533 KIAA0196 (SPG8) DNA Sequencing

613 KIF5A (SPG10) DNA Sequencing

532 NIPA1 (SPG6) DNA Sequencing

609 OPTN DNA Sequencing

632 Paraplegin (SPG7) DNA Sequencing

665 REEP1 (SPG31) Deletion Analysis

529 REEP1 (SPG31) DNA Sequencing

214 SMA Plus (Reflexive)Includes deletion analysis of the SMN1 gene. If an SMN1 deletion is detected on only 1 allele, sequencing of the SMN1 and SMN2 genes will be performed at an additional charge.

211 SMN DNA SequencingIncludes sequencing of the SMN1 and SMN2 genes.

534 Spastin (SPG4) Deletion

530 Spastin (SPG4) DNA Sequencing

614 Spastizin (ZFYVE26) DNA Sequencing (SPG15)

633 Spatacsin (SPG11) DNA Sequencing

444 Spinal Muscular Atrophy Carrier TestIncludes deletion analysis of the SMN1 and SMN2 genes.

111D Spinal Muscular Atrophy Diagnostic TestIncludes deletion analysis of the SMN1 and SMN2 genes.

212 Spinal Muscular Atrophy with Respiratory Distress (SMARD)—IGHMBP2 DNA Sequencing

621 TARDBP DNA Sequencing

611 UBQLN2 DNA Sequencing

610 VCP DNA Sequencing

213 X-Linked Spinal Muscular Atrophy (XLSMA)—UBE1 DNA Sequencing

NEUROLOGY—MOVEMENT DISORDERS

557 Alpha Synuclein (SNCA) DNA Sequencing

059 Alpha Synuclein (SNCA) Duplication/Deletion

493 Aprataxin DNA Sequencing

352 Ataxia-Telangiectasia (ATM) DNA Deletion Analysis

351 Ataxia-Telangiectasia (ATM) DNA Sequencing Analysis

697 Autosomal Dominant Ataxia EvaluationIncludes detection of triplet or other repeats in the DRPLA, SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, and SCA17 genes. Also includes sequencing of the SCA5, SCA14, and SCA28 genes and sequencing of exon 2 and a 20 bp intron in the SCA13 gene.

16

Test Code Test Name

693 Autosomal Recessive Ataxia EvaluationIncludes sequencing in the APTX, FXN, SETX, SIL1, and TTPA genes. Also includes sequencing of the 3 PLOG1 gene exons that are associated with mitochondrial recessive ataxia syndrome.

402 Chorea Differential EvaluationIncludes detection of CAG triplet repeats in the HTT (IT15) and DRPLA genes.

696 Complete Ataxia EvaluationIncludes detection of triplet or other repeats in the DRPLA, FXN, SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, and SCA17 genes. Also includes sequencing of the APTX, FXN, SCA5, SCA14, SCA28, SETX, SIL1, and TTPA genes; sequencing of exon 2 and a 20 bp intron in the SCA13 gene; and sequencing of the 3 PLOG1 gene exons that are associated with mitochondrial recessive ataxia syndrome.

353 Complete Ataxia-Telangiectasia (ATM) EvaluationIncludes sequencing and deletion analysis of the ATM gene.

629 Complete Dopa-Responsive Dystonia (DYT5) EvaluationIncludes sequencing of the GCH1 and TH genes and deletion analysis of the GCH1 gene.

588 Complete Parkinsonism EvaluationIncludes sequencing and duplication/deletion analysis of the PARK2, PARK7 (DJ1), PINK1, and SNCA genes and sequencing of the LRRK2 gene.

401 DRPLA DNA TestIncludes detection of CAG triplet repeats in the DRPLA gene.

626 Dystonia (DYT1) DNAIncludes deletion analysis of the TOR1A (DYT1) gene.

119 Friedreich Ataxia DNAIncludes detection of GAA triplet repeats in the FXN gene.

348 Friedreich's Ataxia DNA SequencingIncludes sequencing of the FXN gene.

349 Friedreich's Ataxia ProfileIncludes detection of GAA triplet repeats and sequencing of the FXN gene.

638 GCH1 Deletion Analysis (DYT5)

637 GCH1 DNA Sequencing

116 Huntington's Disease DNAIncludes detection of CAG triplet repeats in the HTT (IT15) gene.

558 LRRK2 DNA Sequencing

543 LRRK2 DNAIncludes sequencing of 3 codons in the LRRK2 gene: 1441 on exon 31 and 2019 and 2020 on exon 41.

383 MIRAS-Specific POLG1 DNAIncludes sequencing of the 3 PLOG1 gene exons that are associated with mitochondrial recessive ataxia syndrome.

617 MR-1 (PNKD) DNA Sequencing

559 PARK2 (Parkin) DNA Sequencing

040 PARK2 (Parkin) Duplication/Deletion

047 PARK7 (DJ1) Deletion

Test Code Test Name

554 PARK7 (DJ1) DNA Sequencing

058 PINK1 Deletion

542 PINK1 DNA Sequencing

639 Primary Dystonia EvaluationIncludes deletion analysis of the TOR1A (DYT1) gene and sequencing of the THAP1 gene.

666 PRRT2 (Dyskinesia/IC) DNA Sequencing

371 SCA1 DNAIncludes detection of CAG triplet repeats in the SCA1 gene.

387 SCA10 DNAIncludes detection of ATTCT pentanucleotide repeats in the SCA10 gene.

285 SCA12 (PPP2R2B) DNAIncludes detection of CAG triplet repeats in the SCA12 (PPP2R2B) gene.

284 SCA13 Select Exon DNAIncludes sequencing of exon 2 and a 20 bp intron in the KCNC3 (SCA13) gene.

593 SCA14 DNAIncludes sequencing of the PRKCG (SCA14) gene.

388 SCA17 DNAIncludes detection of CAG/CAA triplet repeats in the TBP (SCA17) gene.

672 SCA2 Expansion AnalysisIncludes detection of CAG triple repeats in the ATXN2 (SCA2) gene.

673 SCA28 (AFG3L2) DNA Sequencing

105 SCA3 (Machado-Joseph Disease) DNAIncludes detection of CAG triplet repeats in the ATXN3 (SCA3) gene.

675 SCA5 DNA SequencingIncludes sequencing of the SPTBN2 (SCA5) gene.

373 SCA6 DNAIncludes detection of CAG triplet repeats in the CACNA1A (SCA6) gene.

677 SCA7 Expansion AnalysisIncludes detection of CAG triplet repeats in the ATXN7 (SCA7) gene.

384 SCA8 DNAIncludes detection of CTA/CTG triplet repeats in the ATXN8OS (SCA8) gene.

594 SETX DNA Sequencing

627 SGCE Deletion Analysis (DYT11)

624 SGCE Sequencing (DYT11)

282 SIL1 (Marinesco-Sjogren Syndrome) DNA Sequencing

634 TH DNA Sequencing (DYT5)

618 THAP1 (DYT6) DNA Sequencing


17

Test Code Test Name

283 TTPA (Ataxia with Vitamin E Deficiency) DNA Sequencing

NEUROLOGY—NEUROMUSCULAR DISORDERS

589 ANO5 DNA Sequencing

623 BAG3 DNA Sequencing

641 CACNA1S DNA Sequencing

563 Calpain 3 DNA SequencingIncludes sequencing of the CAPN3 gene.

584 CAPN3 Deletion Analysis

585 CAPN3 EvaluationIncludes sequencing and deletion analysis of the CAPN3 gene.

566 Caveolin 3 DNA SequencingIncludes sequencing of the CAV3 gene.

128 CLCN1 DNA Sequencing



203 COL6A3 DNA Sequencing Test

293 Collagen VI-Related CMD EvaluationIncludes sequencing of the COL6A1, COL6A2, and COL6A3 genes.

295 Complete Congenital Muscular Dystrophy (CMD) EvaluationIncludes sequencing of the COL6A3, FKTN (FCMD), FKRP, LAMA2, POMGNT1, POMT1, and POMT2 genes.

182 Complete DMD Evaluation—FemalesIncludes sequencing and duplication/deletion analysis of the DMD gene. Report provided is specific for females.

181 Complete DMD Evaluation—MalesIncludes sequencing and duplication/deletion analysis of the DMD gene. Report provided is specific for males.

147 Complete Myotonia EvaluationIncludes sequencing of the CLCN1 and SCN4A genes and detection of CTG triplet repeats in the DMPK gene and CCTG repeats in the CNBP gene.

126 Complete Myotonic Dystrophy EvaluationIncludes detection of CTG triplet repeats in the DMPK (DM1) and CCTG repeats in the CNBP (DM2, ZNF9) genes.

587 Complete Sarcoglycans EvaluationIncludes sequencing of the SGCA, SGCB, SGCD, and SGCG genes and deletion analysis of the SGCA and SGCG genes.

602 CRYAB DNA Sequencing

604 DES DNA Sequencing

108 DM1 DNAIncludes detection of CTG triplet repeats in the DMPK (DM1) gene.

110 DM2 DNAIncludes detection of CCTG repeats in the CNBP (DM2, ZNF9) genes.

Test Code Test Name

571 Dysferlin DNA SequencingIncludes sequencing of the DYSF gene.

100 DystrophinIncludes Western blot analysis to determine quality and quantity of dystrophin protein in muscle tissue.

207 Early Onset Myotonia EvaluationIncludes sequencing of the CLCN1 and SCN4A genes and detection of CTG triplet repeats in the DMPK gene.

567 EMD Sequencing

669 Emery-Dreifuss Muscular Dystrophy EvaluationIncludes sequencing of the EMD, FHL1, and LMNA genes.

232 FCMD/FKTN DNA Sequencing

574 FHL1 DNA Sequencing

216 FKRP (CMD) DNA Sequencing

562 FKRP DNA Sequencing

606 FLNC DNA Sequencing

5905 FSHD Molecular CombingIncludes detection of 4q35 deletions and haplotype associated with facioscalpulohumeral muscular dystrophy.

405 FSHD Southern BlotIncludes 4q35 deletions associated with facioscalpulohumeral muscular dystrophy.

649 Hypokalemic Periodic Paralysis (HOKPP) EvaluationIncludes sequencing of the CACNA1S and SCN4A genes.

217 LAMA2 (CMD) DNA Sequencing

565 Lamin A/C DNA SequencingIncludes sequencing of the LMNA gene.

607 LDB3 (ZASP) DNA Sequencing

515 LHON mtDNA EvaluationIncludes detection of point mutations in the ND1 (3460G>A), ND4 (11778G>A), and ND6 (14484T>C) genes.

603 Limb Girdle Muscular Dystrophy EvaluationIncludes sequencing of the CAPN3, CAV3, DYSF, FKRP, LMNA, MYOT, SGCA, SGCB, SGCD and SGCG genes. Also includes deletion analysis in the CAPN3, SGCA, and SGCG genes.

506 Male Muscular Dystrophy Reflexive ProfileIncludes duplication/deletion analysis of the DMD gene. If negative, sequencing of the DMD gene is done at an additional charge. If still negative, sequencing of CAPN3, CAV3, DYSF, FKRP, LMNA, MYOT, SGCA, SGCB, SGCD, and SGCG genes is performed at an additional charge.

517 MELAS mtDNA EvaluationIncludes restriction fragment polymorphism analysis of the MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV genes.


636 Myofibrillar Myopathy (MFM) EvaluationIncludes sequencing of the BAG3, CRYAB, DES, FLNC, LDB3 (ZASP), and MYOT genes.

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Test Code Test Name

616 MYOT (MFM) DNA Sequencing

581 MYOT DNA Sequencing

516 NARP mtDNA EvaluationIncludes detection of point mutations in the MT-ATP6 gene in mitochondrial DNA.

269 Non-Syndromic Congenital Muscular Dystrophy (CMD) EvaluationIncludes sequencing of COL6A1, COL6A2, COL6A3, FKRP, and LAMA2 genes.

300 OPMD DNAIncludes detection of GCG triplet repeats in the PABP2 gene.

490 Optic Atrophy Evaluation (OPA1)Includes sequencing of the OPA1 gene.

103 Partial DMD—Del/Dup Only—FemalesIncludes duplication/deletion analysis of the DMD gene. Report provided is specific for females.

101 Partial DMD—Del/Dup Only—MalesIncludes duplication/deletion analysis of the DMD gene. Report provided is specific for males.

183 Partial DMD—Sequencing OnlyIncludes sequencing of the DMD gene.

220 POMGNT1 (CMD) DNA Sequencing

218 POMT1 (CMD) DNA Sequencing

219 POMT2 (CMD) DNA Sequencing

642 SCN4A (HOKPP) DNA Sequencing

146 SCN4A DNA Sequencing

582 SGCA Deletion

564 SGCA DNA Sequencing

568 SGCA, B, D, G DNA Sequencing

051 SGCB DNA Sequencing

052 SGCD DNA Sequencing

583 SGCG Deletion

053 SGCG DNA Sequencing

237 Syndromic Congenital Muscular Dystrophy (CMD) EvaluationIncludes sequencing of the FKTN (FCMD), POMGNT1, POMT1, POMT2 genes.

NEUROLOGY—PERIPHERAL NEUROPATHY

235 Amyloidosis Evaluation (TTR)Includes sequencing of the TTR gene.

660 ATL1 (HSAN) DNA Sequencing TestIncludes sequencing of the ALT1 gene, targeting mutations associated with hereditary sensory and autonomic neuropathy type 1D.

Test Code Test Name

4008 CMT Advanced Evaluation—AxonalIncludes sequencing of the DNM2, GARS, GDAP1, GJB1 (CX32), HSPB1, HSPB8, LMNA, MFN2, MPZ, NFL, RAB7, TRPV4, and YARS genes and deletion analysis of the GJB1 (CX32) and GJB1 gene.

4001 CMT Advanced Evaluation—ComprehensiveIncludes sequencing of the DNM2, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1 (CX32), HSPB1, HSPB8, LITAF, LMNA, MFN2, MTMR2, MPZ, NDRG1, NFL, PMP22, PRX, RAB7, SBF2, SH3TC2, TRPV4, and YARS genes; deletion analysis of the GJB1 (CX32); and duplicaton/deletion analysis of the PMP22 gene.

4007 CMT Advanced Evaluation—DemyelinatingIncludes sequencing of the DNM2, EGR2, FGD4, FIG4, GDAP1, GJB1 (CX32), LITAF, MTMR2, MPZ, NDRG1, PMP22, PRX, SBF2, SH3TC2, and YARS genes; deletion analysis of the GJB1 (CX32); and duplicaton/deletion analysis of the PMP22 gene.

4005 CMT Advanced Evaluation—DominantIncludes sequencing of the DNM2, EGR2, GARS, HSPB1, HSPB8, LITAF, MFN2, MPZ, NFL, PMP22, RAB7, TRPV4, and YARS genes, and duplicaton/deletion analysis of the PMP22 gene.

4003 CMT Advanced Evaluation—Dominant, AxonalIncludes sequencing of the DNM2, GARS, HSPB1, HSPB8, LMNA, MFN2, MPZ, NFL, RAB7, TRPV4, and YARS genes.

4002 CMT Advanced Evaluation—Dominant, DemyelinatingIncludes sequencing of the DNM2, EGR2, LITAF, MPZ, PMP22, and YARS genes and duplicaton/deletion analysis of the PMP22 gene.

4006 CMT Advanced Evaluation—RecessiveIncludes sequencing of the FGD4, FIG4, GDAP1, LMNA, MTMR2, NDRG1, PRX, SBF2, and SH3TC2 genes.

4004 CMT Advanced Evaluation—Recessive, DemyelinatingIncludes sequencing of the FGD4, FIG4, GDAP1, MTMR2, NDRG1, PRX, SBF2, and SH3TC2 genes.

286 Complete Dejerine-Sottas Neuropathy EvaluationIncludes EGR2, MPZ, PMP22, and PRX gene sequencing.

243 Complete HNPP EvaluationIncludes sequencing and duplication/deletion analysis of the PMP22 gene.

245 Congenital Hypomyelination EvaluationIncludes sequencing of the EGR2 and MPZ genes.

143 Connexin32 EvaluationIncludes sequencing and duplication/deletion analysis of the GJB1 gene.

253 DNM2 DNA Sequencing

691 Early Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) EvaluationIncludes sequencing of the NTRK1 and WNK1 genes.

248 EGR2 DNA Sequencing

296 Entrapment Neuropathy EvaluationIncludes sequencing of the PMP22 and TTR genes and duplication/deletion analysis of the PMP22 gene.

208 FGD4 DNA Sequencing

225 FIG4 DNA Sequencing


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All tests were developed and their performance characteristics have been determined by Athena Diagnostics. Performance characteristics refer to the analytical performance of the test.

Test Code Test Name

228 GARS (CMT2D) DNA Sequencing

221 GDAP1 DNA Sequencing

229 HSPB1 (CMT2F) DNA Sequencing

463 HSPB8 DNA Sequencing

698 Late Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) EvaluationIncludes sequencing of the SPTLC1 and SPTLC2 genes.

222 LITAF/SIMPLE DNA Sequencing

226 LMNA (CMT2B1) DNA Sequencing


223 MFN2 DNA Sequencing

354 MTMR2 DNA Sequencing

134 Myelin Protein Zero (MPZ) DNA Sequencing

394 NDRG1 DNA Sequencing

249 Neurofilament Light (NFL) DNA Sequencing

659 NTRK1 DNA Sequencing

239 Periaxin DNA Sequencing TestIncludes sequencing of the PRX gene.

247 PMP22 DNA Sequencing

131 PMP22 Duplication/Deletion DNA

227 RAB7 (CMT2B) DNA Sequencing

164 SBF2 DNA Sequencing

719 SEPT9 DNA Sequencing

224 SH3TC2 DNA Sequencing

551 SPTLC1 DNA Sequencing

552 SPTLC2 DNA Sequencing

144 TRPV4 DNA Sequencing

553 WNK1 DNA Sequencing

468 YARS DNA Sequencing

Test Code Test Name

NEUROLOGY—OTHER

319 Connexin 30 DNAIncludes deletion analysis of the GJB6 gene.

329 Connexin Related Deafness EvaluationIncludes sequencing of the GJB2 gene and deletion analysis of the GJB6 gene.

321 Cx26 DNA SequencingIncludes sequencing of the GJB2 gene.

185 Familial DNA Sequence EvaluationIncludes analysis for a familial mutation only.

187 Familial Hemiplegic Migraine Type I (CACNA1A) DNAIncludes sequencing of the CACNA1A gene.

188 Familial Hemiplegic Migraine Type II (ATP1A2) DNAIncludes sequencing of the ATP1A2 gene.

189 Familial Hemiplegic Migraine Type III (SCN1A) DNA (Target Exon Analysis)Includes sequencing of the SCN1A gene.

190 Hemiplegic Migraine EvaluationIncludes sequencing of the ATP1A2, CACNA1A, and SCN1A genes.


648 Neurofibromatosis Type 1 (NF1) EvaluationIncludes sequencing and deletion analysis of the NF1 gene.

647 Neurofibromatosis Type 1 DeletionIncludes deletion analysis of the NF1 gene.

646 Neurofibromatosis Type 1 DNA SequencingIncludes sequencing of the NF1 gene.

644 Neurofibromatosis Type 2 (NF2) Duplication/Deletion

645 Neurofibromatosis Type 2 (NF2) EvaluationIncludes sequencing and duplication/deletion analysis of the NF2 gene.

635 Neurofibromatosis Type 2 DNA Sequencing Includes sequencing of the NF2 gene.

OTHER GENETIC TESTS

166 APOE Genotype AnalysisIncludes analysis of the APOE genotype (e2, e3, and e4 alleles) for non-Alzheimer disease indications.

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