Genetics and Genomics Diagnostic Laboratory

Genetic Testing for Cardiovascular Diseases | Tests Offered

Tests Offered

The Molecular Genetics Lab currently offers genetic testing for DNA mutations associated with cardiac disease as part of the Cardiovascular Diseases Genetic Testing Program. Testing may be ordered for individual genes (see table below) or for panels of genes offered by disease (see dropdown below). In families in which a mutation has been identified, targeted testing is available at a reduced cost. Order known familial mutation testing in these cases. DNA extraction and storage without genetic testing is also available.

Cardiovascular Diseases

Individual Genes

Gene

 

Associated Diseases

 

Requisition

Single Gene Sequencing Analysis

This test is designed for the physician who wants to order the sequencing analysis for a single gene which is associated with cardiovascular diseases, and is not already offered as a standalone test listed below.

Requisition

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

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

TTN

Cardiomyopathies

Requisition

TNNT2

Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Left Ventricular Noncompaction

Requisition

ZIC3 

X-linked Heterotaxy, Isolated Congenital Heart Disease

Requisition  

 

> View Next Generation Reference Sequences (PDF)