Diagnostic Lab

  • Heart Institute Diagnostic Lab Genetic Testing

    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 offered by individual gene: 

    Gene

    Associated Disease (s)

    Requisition Form
     

    ACTA2

    Familial Thoracic Aortic Aneurysm and Dissection

    Req form

    CASQ2

    Catecholamine-Induced Polymorphic Ventricular Tachycardia

    Req form 

    CAV3

    Caveolinopathies, Long QT Syndrome, Sudden Infant Death Syndrome

    Req form 

    CFC1 

    Isolated Congenital Heart Disease, TGA, DORV, Heterotaxy Syndrome

    Req form 

    DES

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

    Req form 

    EMD

    Emery-Dreifuss Muscular Dystrophy

    Req form 

    FBN1 

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

    Req form 

    FOXH1 

    Isolated Congenital Heart Disease, Heterotaxy Syndrome, Holoprosencephaly

    Req form 

    KCNJ2

    Andersen-Tawil Syndrome, Long QT Syndrome

    Req form 

    LAMP2

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

    Req form

    LDB3

    Dilated Cardiomyopathy, Left Ventricular Noncompaction, Myofibrillar Myopathy

    Req form 

    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

    Req form  

    MYH7

    Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Left Ventricular Noncompaction

    Req form 

    MYH11

    Familial Thoracic Aortic Aneurysm and Dissection

    Req form

    MYBPC3

    Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Left Ventricular Noncompaction

    Req form

    MYL2

    Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Left Ventricular Noncompaction

    Req form

    MYL3

    Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Left Ventricular Noncompaction

    Req form

    NKX2.5 

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

    Req form 

    NODAL 

    Heterotaxy Syndrome, Isolated Congenital Heart Disease, Holoprosencephaly

    Req form 

    SCO2 

    Hypertrophic Cardiomyopathy, Encephalopathy, COX Deficiency, Leigh Syndrome

    Req form 

    SURF1 

    Leigh Syndrome, COX Deficiency

    Req form 

    TAZ 

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

    Req form

    TBX5 

    Holt-Oram Syndrome

    Req form

    TGFBR1 

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

    Req form

    TGFBR2 

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

    Req form 

    TNNT2

    Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Left Ventricular Noncompaction

    Req form

    ZIC3 

    X-linked Heterotaxy, Isolated Congenital Heart Disease

    Req form  

     

    Tests / Panels offered by disease 

     

    Panel
     

    Associated Genes
     

    Requisition Form
     

    Marfan Syndrome and MFS Related Disorders

    FBN1 
    TGFBR1
    TGFBR2

    Req form 

    Comprehensive Cardiomyopathy Panel


     

    Req form


    Thoracic Aortic Aneurysm

    ACTA2
    FBN1
    MYH11
    TGFBR1
    TGFBR2

    Req form

    Congenital Heart Disease

    TBX5
    NKX2.5

    Req form 

    Heterotaxy 

    CFC1    
    FOXH1    
    NODAL          
    ZIC3

    Req form 

    Long QT Syndrome

    KCNJ2      
    CAV3

    Req form 

    Other Arrhythmia Disorders

    CASQ2        
    DES         
    KCNJ2

    Req form 

    Sudden Infant Death Syndrome

    CAV3

    Req form 

    Atrioventricular Block

    LMNA         
    DES          
    EMD  
    NKX2.5

    Req form 

     

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

    Search for a test in our clinical laboratory index.