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

    SKI  

    Thoracic Aortic Aneurysms and Aortic Dissections

    Req form  

    SURF1

    Leigh Syndrome, COX Deficiency

    Req form

    TAZ 

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

    Req form

    TBX1

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

    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

    Titin

    Cardiomyopathies

    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

    ARVC

    Gene list and more information

    Req form

    Atrioventricular Block

    LMNA
    DES
    EMD  
    NKX2.5

    Req form 

    Comprehensive Cardiomyopathy Panel


    Gene list and more information

    Req form 


    Congenital Heart Disease

    TBX1 
    TBX5
    NKX2.5

    Req form

    Dilated Cardiomyopathy Panel

    Gene list and more information

    Req form

    Heterotaxy 

    CFC1
    FOXH1
    NODAL
    ZIC3

    Req form

    Hypertrophic Cardiomyopathy Panel

    Gene list and more information

    Req form

    Left Ventricular Noncompaction

    Gene list and more information

    Req form

    Long QT Syndrome

    KCNJ2
    CAV3

    Req form

    Marfan Syndrome and MFS Related Disorders - Sequencing or Deletion Duplication

    FBN1
    TGFBR1
    TGFBR2

    Req form

    Noonan Spectrum Panel

    BRAF
    CBL
    HRAS
    KRAS
    MAP2K1
    MAP2K2
    NF1
    NRAS
    PTPN11
    RAF1
    SHOC2
    SOS1

    Req form

    Other Arrhythmia Disorders

    CASQ2
    DES
    KCNJ2

    Req form

    Restrictive Cardiomyopathy PanelGene list and more information Req form

    Sudden Infant Death Syndrome

    CAV3

    Req form

    Thoracic Aortic Aneurysm

    ACTA2
    CBS
    COL3A1
    FBN1
    FBN2
    FLNA
    MYH11
    MYLK
    SKI
    SLC2A10
    SMAD3
    TGFB2
    TGFBR1
    TGFBR2

    Req form

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

    Search for a test in our clinical laboratory index.