The Heart Institute Diagnostic Lab offers genetic testing for DNA mutations associated with cardiac disease. Testing may be ordered for individual genes or for panels of genes offered by disease (see below). In families in which a mutation has been identified, targeted testing is available at a reduced cost. Please order known familial mutation testing in these cases. DNA extraction and storage without genetic testing is also available.

DNA extraction only*
Requisition form

Prenatal requisition
Requisition form

 

Tests / Panels Offered 

Arrhythmia Panels

Atrial Fibrillation Panel

Gene list and more information

Requisition

Atrioventricular Block Panel

Gene list and more information

Requisition

Brugada Syndrome Panel

Gene list and more information

Requisition

Cardiac Channelopathy

Gene list and more information

Requisition

CPVT Panel

Gene list and more information

Requisition

Long QT Syndrome Panel

Gene list and more information

Requisition

Short QT Syndrome Panel

Gene list and more information

Requisition

Cardiomyopathy Panels

Arrhythmogenic Right Ventricular Cardiomyopathy Panel Gene list and more information Requisition

Comprehensive Cardiomyopathy Panel

Gene list and more information

Requisition

Dilated Cardiomyopathy Panel

Gene list and more information

Requisition

__ • DCM Reflex to Comprehensive Analysis

Gene list and more information

Requisition

DMC and DMD related Cardiomyopathy Panel

Gene list and more information

Requisition

Hypertrophic Cardiomyopathy Analysis

Gene list and more information

Requisition

__ • HCM Reflex to Comprehensive Analysis

Gene list and more information

Requisition

Left Ventricular Noncompaction Panel

Gene list and more information

Requisition

__ • LVNC Reflex to Comprehensive Analysis

Gene list and more information

Requisition

Restrictive Cardiomyopathy Panel

Gene list and more information

Requisition

__ • RCM Reflex to Comprehensive Analysis

Gene list and more information

Requisition

Congenital Heart Disease Panels

Congenital Heart Disease

 

Requisition

Heterotaxy V1 Panel (4 genes)

More Information Requisition

Heterotaxy V2 Panel (17 genes)

More Information

Requisition

__ • Heterotaxy V1 Reflex Panel* (13 genes)

More Information

Requisition

Noonan Spectrum Panel (12 genes)     

More Information

Requisition

Prenatal Noonan Spectrum Disorders Panel (9 genes)

More Information

Requisition

__ • Prenatal Noonan Reflex to Noonan Panel (3 genes)

More Information

Requisition

Connective Tissue Disorders

Marfan Syndrome Panel (Sequencing)

Gene list and more information

Requisition

Marfan Syndrome Panel (Deletion/Duplication)

Gene list and more information

Requisition
Thoracic Aortic Aneurysm Panel Gene list and more information Requisition
__ • TAA V1 Reflex Panel* Gene list and more information Requisition

Other Panels

Maternal Cell Contamination Study

 

Prenatal Samples Requisition Insurance Bill

Pulmonary Arterial Hypertension (PAH) Panel

More Information

PAH Requisition Insurance Bill

 


Tests Offered by Individual Gene 

Gene

 

Associated Disease(s)

 

Requisitions

ACTA2

Familial Thoracic Aortic Aneurysm and Dissection

Requisition

APOB (R3500Q / R3500W)

Familial Hypercholesterolemia, Hypobetalipoproteinemia

Requisition

CASQ2

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Requisition

CAV3

Caveolinopathies, Long QT Syndrome, Sudden Infant Death Syndrome

Requisition

CFC1

Isolated Congenital Heart Disease, TGA, DORV, Heterotaxy Syndrome

Requisition

DES

Desmin-related Myopathy, Dilated Cardiomyopathy, Cardiomyopathy, Distal Myopathy

Requisition

EMD

Emery-Dreifuss Muscular Dystrophy

Requisition

FBN1

Marfan Syndrome, Neonatal Marfan Syndrome, Isolated Skeletal Features of Marfan Syndrome, Autosomal Dominant Ectopia Lentis, Aortic Aneurysm

Requisition

FOXH1

Isolated Congenital Heart Disease, Heterotaxy Syndrome, Holoprosencephaly

Requisition

KCNJ2

Andersen-Tawil Syndrome, Long QT Syndrome

Requisition

LAMP2

Danon Disease, Hypertrophic or Dilated Cardiomyopathy with Skeletal Myopathy and / or Wolff-Parkinson-White Syndrome

Requisition

LDB3

Dilated Cardiomyopathy, Left Ventricular Noncompaction, Myofibrillar Myopathy

Requisition

LDLR

Familial Hypercholesterolemia

Requisition

LMNA

Emery-Dreifuss Muscular Dystrophy, Dilated Cardiomyopathy, Cardiomyopathy with Conduction Defects, Partial Lipodystrophy, Charcot-Marie-Tooth, Mandibuloacral Dysplasia, Hutchinson-Gilford Progeria Syndrome, Limb Girdle Muscular Dystrophy

Requisition

MYH7

Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Left Ventricular Noncompaction

Requisition

MYH11

Familial Thoracic Aortic Aneurysm and Dissection

Requisition

MYBPC3

Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Left Ventricular Noncompaction

Requisition

MYL2

Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Left Ventricular Noncompaction

Requisition

MYL3

Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Left Ventricular Noncompaction

Requisition

NKX2.5

Isolated Nonsyndromic Congenital Heart Disease, Familial atrial septal defects with AV block

Requisition

NODAL

Heterotaxy Syndrome, Isolated Congenital Heart Disease, Holoprosencephaly

Requisition

SCO2

Hypertrophic Cardiomyopathy, Encephalopathy, COX Deficiency, Leigh Syndrome

Requisition

SKI  

Thoracic Aortic Aneurysms and Aortic Dissections

Requisition

SURF1

Leigh Syndrome, COX Deficiency

Requisition

TAZ 

Barth Syndrome, Dilated Cardiomyopathy, Left Ventricular Noncompaction, Endocardial Fibroelastosis

Requisition

TBX1

22q11.2 Deletion Syndrome, Velocardiofacial Syndrome, DiGeorge Syndrome

Requisition

TBX5 

Holt-Oram Syndrome

Requisition

TGFBR1 

Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm / Dissection, Type 5 (AAT5), Furlong Syndrome, Marfan Syndrome

Requisition

TGFBR2

Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm / Dissection, Type 3 (AAT3), Marfan Syndrome

Requisition

Titin

Cardiomyopathies

Requisition

TNNT2

Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Left Ventricular Noncompaction

Requisition

ZIC3 

X-linked Heterotaxy, Isolated Congenital Heart Disease

Requisition  

 

* DNA extraction costs are included when ordering individual gene or gene panel testing.

Click here to view Next Generation Reference Sequences (PDF).

Search for a Test.