(สามารถเกบตวอยางทตเยน 4◦C ไมเกน 1 สปดาห)

(ความเขมขน >100 ng/ l ละลายใน TE buffer หรอ Low-EDTA TE buffer)

(กรณาตดตอเจาหนาทหองปฏบตการ 0-2419-2736)

Axonal CMT Panel (seq & del/dup of 18 genes) Congenital Myopathy & Muscular Dystrophy Panel Neuromuscular Disorders Panel Other…………………………………………………...

Comprehensive Arrhythmia Panel Comprehensive Cardiomyopathy Panel Comprehensive Epilepsy Panel Other…………………………………………………..

Breast Cancer High Risk Panel Breast/Ovarian Cancer Panel Colorectal Cancer Panel Comprehensive Cancer Panel OncoGeneDx Custom Panel Other…………………………………………………..

BRCA 1/2 Sequencing and Del/Dup Analysis Noonan Spectrum Disorders Panel DMD Gene Sequencing Other…………………………………………………..

MEN1 Gene Sequencing & Del/Dup Mito Genome Sequencing & Deletion Testing Custom ExonArrayDx Whole Genome Array (GenomeDx) Other…………………………………………………..

InherigenPlus Connexin Gene Testing Other…………………………………………………..

Inherigen InherigenTX SRY Gene Sequencing Other……………………………………………………………………………………………………………………

รหสเอกสาร: SI-04-2-015-C-RS5-00 หนา 1/5

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อ.นพ.ชนนทร ลมวงศ หรอ รศ.นพ.มานพ พทกษภากร

Cystic hygroma/increased NT IUGR

Oligohydramnios Polyhydramnios Prematurity

Failure to thrive Growth retardation/short stature

Microcephaly Head circumference: ________ Overgrowth Macrocephaly

Developmental regression Fine motor delay

Gross motor delay Intellectual disability/MR IQ: _____________ Learning disability

Speech delay

Autism spectrum disorder

Autistic features Behavioral/Psychiatric abnormalities Obsessive-compulsive disorder

Stereotypic behaviors

Abnormal hair

Blindness Cataracts Cleft lip/palate

Coloboma of eye CPEO (Ophthalmoplegia) External ear malformation

Facial dysmorphism - please describe: _____________________________________________________ _____________________________________________________ Optic atrophy Ototoxicity (aminoglycoside-induced) Ptosis

Retinitis pigmentosa Sensorineural hearing loss Speech articulation difficulties

Visual impairment

Arrhythmia/conduction defect

ASD/VSD (circle if applies) Cardiomegaly Cardiomyopathy

Coarctation of aorta Hypoplastic left heart Tetralogy of Fallot

Chronic diarrhea Constipation

Delayed gastric emptying Gastrointestinal reflux Gastroschisis/omphalocele

Hepatic failure Nausea Pyloric stenosis

Recurrent vomiting Tracheoesophageal fistula

Epileptic encephalopathy Febrile seizures

Dravet syndrome Focal seizures Generalized seizures

Absence Clonic Myoclonic Tonic-clonic Infantile/epileptic spasms

Ohtahara syndrome West syndrome Status epilepticus

Abnormalities of basal ganglia Agenesis of the corpus callosum Brain atrophy

Cortical dysplasia Hemimegalencephaly Holoprosencephaly

Hydrocephalus Lissencephaly Molar tooth sign

Periventricular leukomalacia Periventricular nodular heterotopia Polymicrogyria

Pontocerebellar hypoplasia Subcortical band hetertopia Tumor (type: ________________________)

Abnormal electromyography (EMG) Dysphagia

Easy fatigue Exercise intolerance Hypertonia

Hypotonia Joint hyperflexibility Joint hypermobility

Muscle fasciculations Muscle stiffness Muscle wasting Muscle weakness: proximal/distal/ upper limb/lower limb (circle all that apply) Myotonia Respiratory insufficiency

Nerve conduction velocities:

Normal Abnormal Ataxia Bulbar signs

Chorea Congenital Neuropathy Distal motor neuropathy

Dystonia Episodic apnea (sudden) Foot drop

Hypomyelination Lower extremity weakness Pes cavus

Pressure palsy Recurrent headache/migraine Reduced/absent deep tendon reflexes

Sensory Neuropathy Hyperesthesia Paresthesia Sleep apnea

Spasticity Stroke/stroke-like episodes Tremor

Vocal cord paresis

Abnormal sweating Abnormal temperature regulation

Diabetes mellitus: Type 1 Type II Gynecomastia Hypoparathyroidism

Hypothyroidism Pheochromocytoma/paraganglioma

Club foot Contractures Hammer toe

Hip dysplasia Osteomyelitis/necrosis Polydactyly

Scoliosis Syndactyly Vertebral anomaly

Ambiguous genitalia Hydronephrosis

Hypospadias Kidney malformation Neurogenic bladder

Renal tubulopathy Undescended testis

CPK abnormalities (value:______________) Elevated alanine Elevated pyruvate

Hyperammonemia Hypoglycemia Ketosis

Lactic acidemia/high CSF lactate Low plasma carnitine Organic aciduria

Muscle biopsy COX deficiency

Histology:___________________________ Large mitochondria (mt)/mt proliferation Positive newborn screen: _____________

Ragged red fibers Respiratory enzymes: ________________ Ultrastructure (EM): __________________

Nerve biopsy Histology:___________________________ Ultrastructure (EM): __________________

Array CGH: ___________________________

Chromosomes/FISH: ____________________ Other relevant results (clinical or research): __________________________________________________ __________________________________________________ Draw/attach pedigree and/or

include additional clinical information ______________________________________ ________________________________________________________ ________________________________________________________ ________________________________________________________ ________________________________________________________ ________________________________________________________ ________________________________________________________

รหสเอกสาร: SI-04-2-015-C-RS5-00 หนา 2/5

❒ Age(s) at Dx: _____ ER ___ PR ___ HER2 ___ ❒ triple negative ❒ Bilateral ❒ Two Primaries ❒ Invasive Ductal ❒ Invasive Lobular ❒ DCIS ❒ LCIS ❒ Other: __________________________________ ❒ Age(s) at Dx:___________ ❒ Serous ❒ Mucinous ❒ Endometrioid ❒ Clear Cell ❒ LMP/Borderline ❒ Other: __________________________________ ❒ Age(s) at Dx:___________ ❒ Serous ❒ Mucinous ❒ Endometrioid ❒ Clear Cell ❒ Sarcoma ❒ Other:___________________________________ ❒ Age(s) at Dx:___________ ❒ Adenocarcinoma ❒ IPMN ❒ Neuroendocrine ❒ Other: _________________ ❒ Age at Dx: ___________ Gleason Score: ____________________________ ❒ Age(s) at Dx: ___________❒ Invasive ❒ In-Situ ❒ Age(s) at Dx: ___________ Pathology: ______________________

❒ Age(s) at Dx: ___________ Pathology: __________________________ Location: ❒ Right ❒ Left ❒ Transverse ❒ Rectum ❒ Age of first polyp: ________ ❒ Adenomatous - total #: ___________________ ❒ Other - Pathology: ______________________ Other - total #: ___________________ ❒ Age(s) at Dx: ___________ ❒ Thyroid ❒ Pathology/Diagnosis: _____________________________________ ❒ Pheochromocytoma (PCC) ❒ Paraganglioma (PGL) Location: ______________ ❒ Bilateral ❒ Age(s) at Dx: ___________ ❒ Bilateral ❒ Clear Cell ❒ Papillary Type (I or II) : ____________________ ❒ Transitional Cell ❒ Other: _________________________________ ❒ Age(s) at Dx: ___________ Pathology: _____________________ ❒ _____________________________ Age at Dx: ___________

: ❒ Not Done ❒ High ❒ Stable ❒ Low : ❒ Not Done ❒ Present

❒ Absent IHC of: ________________________ : ❒ Not Done

❒ Methylated - Tumor Only ❒ Methylated - Tumor and Normal Tissue ❒ Unmethylated

: ❒Not Done ❒Present ❒Absent Please include a copy of the full tumor testing report, if available.

หนา 3/5

❒ No Personal History of Genetic Testing

Gene(s) Tested: ___________________________ ❒ Positive _______________________________ ❒ VUS __________________________________ ❒ Negative

❒ No Known Tumor Testing Results Tumor Type Tested: ___________________________________________________________________________________________________________________________

รหสเอกสาร: SI-04-2-015-C-RS5-00

❒ No Known Family History of Genetic Testing ❒ Relative Tested:_______________________ ❒ Gene(s) Tested: _______________________ ❒ Positive __________________________ ❒ VUS _____________________________ ❒ Negative

รหสเอกสาร: SI-04-2-015-C-RS5-00 หนา 4/5

❒ Yes ❒ No

Maximum QTc interval:____________

Maximum LV wall thickness:________mm

Z score: _______

EF%:__________

Aortic root dimensions: ________mm

Z score: __________

Epistaxis: ❒ Yes ❒ No

Idiopathic PAH: ❒ Yes ❒ No

Familial PAH: ❒ Yes ❒ No

History of sudden death

If Yes, please specify

__________________________________

__________________________________

__________________________________

__________________________________

❒ Yes ❒ No

รหสเอกสาร: SI-04-2-015-C-RS5-00 หนา 5/5

Prematurity IUGR

Oligohydramnios Polyhydramnios Cystic hygroma/increased NT

Failure to thrive Growth retardation/short stature

Overgrowth Macrocephaly Microcephaly

Fine motor delay Gross motor delay

Speech delay Intellectual disability/MR IQ: _____________ Learning disability

Developmental regression

Autism spectrum disorder

Autistic features Obsessive-compulsive disorder Stereotypic behaviors

Other psychiatric symptoms

Cataracts

Cleft lip/palate Coloboma of eye CPEO (opthalmoplegia)

Ptosis Blindness Optic atrophy

Retinitis pigmentosa Hearing loss Ototoxicity (aminoglycoside-induced)

External ear malformation Facial dysmorphism - please describe: __________________________________________________________ __________________________________________________________

ASD

VSD Coarctation of aorta Hypoplastic left heart

Tetralogy of Fallot Cardiomyopathy Arrhythmia/conduction defect

Other: ________________________________

Age of onset: ___________________________

Tumor type: ____________________________ Location(s):_____________________________ Affected relatives: _______________________ ______________________________________________________________________________________________________________________ ___________________________________________________________

Abnormal hair: ________________________ Quality/Quantity: ___________________

Hair distribution: ____________________ Abnormal nails: _______________________ Abnormal pigmentation: ________________

Abnormal connective tissue: _____________ Blistering Ichthyosis

Skin tumors/Malignancies Other: _______________________________

Agenesis of the corpus callosum Holoprosencephaly Lissencephaly

Cortical dysplasia Heterotopia Hydrocephalus

Brain atrophy Periventricular leukomalacia Hemimegalencephaly

Abnormalities of basal ganglia Other: _______________________________

Ataxia Chorea Dystonia

Hypotonia Hypertonia Seizures (type:________________________)

Spasticity Exercise intolerance/easy fatigue Muscle weakness

Stroke/stroke-like episodes Recurrent headache/migraine

Gastroschisis/omphalocele Pyloric stenosis Tracheoesophageal fistula

Delayed gastric emptying Eosinophilic esophagitis Gastrointestinal reflux

Recurrent vomiting Chronic diarrhea Constipation

Chronic intestinal pseudo-obstruction Hirschsprung disease Hepatic failure Elevated transaminases

Contractures Club foot

Polydactyly Syndactyly Scoliosis

Vertebral anomaly Other: ______________________________

Ambiguous genitalia Hypospadias Hydronephrosis

Undescended testis Kidney malformation Renal agenesis

Renal tubulopathy Other: _______________________________

Diabetes mellitus: Type 1 Type II Hypothyroidism

Hypoparathyroidism Pheochromocytoma/paraganglioma

Ketosis Lactic acidemia/high CSF lactate Elevated pyruvate

Elevated alanine Organic aciduria Low plasma carnitine

CPK abnormalities

Anemia/neutropenia/pancytopenia

Immunodeficiency Other:________________________________

Chromosomes/FISH: ____________________ Array CGH:____________________________ Fragile X syndrome: _____________________

Muscle biopsy: ________________________ Other relevant results (clinical or research): __________________________________________________________ __________________________________________________________ __________________________________________________________ __________________________________________________________ __________________________________________________________ __________________________________________________________ __________________________________________________________

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อ.นพ.ชนนทร ลมวงศ /รศ.นพ.มานพ พทกษภากร