Diagnostic Testing

Comparable diagnostic testing available through GeneDx’s Gaithersburg laboratory

For any other diagnostic panels not listed, additional options may be available through GeneDx’s extensive test catalog. Please contact your sales representative or support@genedx.com for additional information.

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Current test (Stamford) Test as of 11/15/22 (Gaithersburg)
Albinism, Hermansky-Pudlak Syndrome, and Waardenburg Syndrome Subpanel
(18 genes)
Waardenburg Syndrome Panel
(8 genes)
Albinism Slice
(custom up to 150 genes)
Aortopathies Panel
(33 genes)
Heritable Disorders of Connective Tissue
(60 Genes)

Alternatives:
Ehlers Danlos panel
(4 genes)
Marfan/Thoracic Aortic Aneurysm
and Dissection & Related Disorders Panel

(26 genes)

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Subpanel
(8 genes)
Arrhythmogenic Right Ventricular
Cardiomyopathy (ARVC) Panel

(16 genes)
Branchio-Oto-Renal Syndrome Panel
(3 genes)
Branchiootorenal Spectrum Disorder Panel
(3 genes)
Brugada Syndrome (BrS) Subpanel
(20 genes)
Brugada Panel
(17 genes)
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Subpanel
(8 genes)
Catecholaminergic Polymorphic Ventricular
Tachycardia (CPVT) Panel

(9 genes)
Comprehensive Arrhythmias Panel
(54 genes)
Arrhythmia Panel
(58 genes)
Comprehensive Autism Panel
(228 genes)
Autism/ID Panel
(103 genes)
Comprehensive Cardiomyopathy Panel
(190 genes)
Cardiomyopathy Panel
(102 genes)
Comprehensive Cardiovascular Panel
(240 genes)
Combined Cardiac Panel
(138 genes)
Comprehensive Epilepsy
(226 genes)
Comprehensive Epilepsy Panel
(144 genes)

Alternatives:
STAT Epilepsy Panel
(27 genes)
EpiXpanded Panel
(1300+ genes, trio)

Comprehensive Epilepsy and Autism Panel
(401 genes)
Autism/ID Xpanded Panel
(~2300 genes)
Comprehensive Vision and Hearing Loss Panel
(308 genes)
Comprehensive Hearing Loss
(92 genes)
Diagnostic OTOANCORIN NGS AND DEL/DUP (OTOA)
Diagnostic STEREOCILIN DEL/DUP (STRC)
Hearing Loss Panel
(~150 genes, including relevant nuclear and mitochondrial genes)
Comprehensive Vision Loss Panel
(250 genes)
Retinal Dystrophy Xpanded Panel
(~780 genes)
Congenital Heart Disease Panel
(43 genes)
Xpanded Congenital Heart Defects Panel
(350+ genes)
Connexin 26 / Connexin 30 Del / Dup Hearing Loss Panel DNFB1 Autosomal Recessive Hearing Loss
(GJB2 sequencing and common GJB6 deletions)
Craniosynostosis
(8 genes)
Craniosynostosis Panel
(30 genes)
Developmental Eye Panel
(21 genes)
Anophthalmia/Microphthalmia panel
(23 genes)
Dilated Cardiomyopathy Panel (DCM) Subpanel
(57 genes)
Dilated Cardiomyopathy Panel
(68 genes)
Fabry testing GLA Sequencing and Del/Dup
Familial Hypercholesterolemia (FH) Subpanel
(4 genes)
Familial Hypercholesterolemia (FH) Panel
(4 genes)
FGFR3 postnatal (FGFR3 Hotspot Panel with Reflex to Full Gene Sequencing) FGFR-related Disorders Panel
(3 genes)
Focal, Generalized, Myoclonic Epilepsy
(52 genes)
Childhood-Onset Epilepsy Panel
(87 genes)
Infantile Onset Epilepsy Panel
(126 genes)
Comprehensive Epilepsy Panel
(144 genes)
STAT Epilepsy Panel
(27 genes)
Hereditary Hemorrhagic Telangiectasia (HHT) Panel
(5 genes)
Hereditary Hemorrhagic Telangiectasia Panel
(5 genes)
Hypertrophic Cardiomyopathy (HCM) Subpanel
(40 genes)
Hypertrophic Cardiomyopathy (HCM) Panel
(42 genes)
Infantile Epilepsy
(58 genes)
Infantile Epilepsy Panel
(126 genes)
Left Ventricular Non-Compaction (LVNC) Subpanel
(20 genes)
Cardiomyopathy Panel
(102 genes)
Limb Defects Sequencing Panel
(8 genes)
Limb Abnormalities and Reduction Defects Panel
(72 genes)
Long / Short QT Syndrome (LQTS/SQTS) Subpanel
(19 genes)
LQTS Panel
(17 genes)
Microcephaly
(78 genes)
Microcephaly Panel
(65 genes)

Alternatives:
Microcephaly Xpanded Panel
Lissencephaly Panel
Leukodystrophy Xpanded Panel

Migraine Subpanel
(7 genes)
Hemiplegic Migraine Panel
(4 genes)
Neuronal Ceroid Lipofucinosese Subpanel
(9 genes)
Comprehensive Epilepsy Panel
(144 genes)
EpiXpanded Panel
(2000+ genes, trio)
Neuronal Migration
(22 genes)
Comprehensive Brain Malformation Panel
(103 genes)
Cortical Brain Malformations Panel
(61 genes)
Noonan Spectrum Disorders panel
(18 genes)
Noonan and Comprehensive RASopathies Panel
(25 genes)
Prenatal FGFR3 single gene Prenatal Skeletal Dysplasia Panel
(48 genes)
Prenatal Limb Defects Sequencing Panel
(8 genes)
Prenatal Limb Abnormalities Panel
(5 genes)
Prenatal Microcephaly
(78 genes)
XomeDx Prenatal – Comprehensive or Targeted
(expedited TAT; insurance not accepted)
XomeDx Fetal
(standard TAT; insurance accepted)

Alternatives:
Prenatal Holoprosencephaly Panel & Del/Dup
Prenatal Lissencephaly Panel
Prenatal Pontocerebellar Hypoplasia Panel
Prenatal Joubert Syndrome and Related Disorders Panel

Prenatal Noonan Spectrum Disorders panel
(18 genes)
Prenatal Noonan Spectrum Disorders Panel
(11 genes)
Pulmonary Hypertension panel
(10 genes)
Pulmonary Arterial Hypertension Panel
(8 genes)
Retinal Disease Panel
(154 genes)
Retinal Dystrophy Xpanded Panel
(~780 genes)
Severe Combined Immunodeficiency (SCID) Subpanel
(26 genes)
Comprehensive SCID Panel
STAT Autism Spectrum Disorder Subpanel
(30 genes)
Autism/ID Panel
(NGS, 103 genes)
Autism/ID Xpanded Panel
(Xome platform, trio test, 2000+ genes)
Stickler & Cataract Panel
(41 genes)
Cataract Panel
Stickler Syndrome Panel
Syndromic Epilepsy and Intellectual Disability Subpanel
(93 genes)
Autism/ID Xpanded Panel
(2300+)
Usher Syndrome Panel
(11 genes)
Usher Syndrome Panel
(10 genes)
Zellweger Syndrome Panel
(9 genes)
Peroxisomal Disorders Panel
(25 genes)