Gene
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Associated Diseases
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Requisition
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Single Gene Sequencing Analysis
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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.
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Requisition
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ACTA2
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Familial Thoracic Aortic Aneurysm and Dissection
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Requisition
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APOB (R3500Q / R3500W)
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Familial Hypercholesterolemia, Hypobetalipoproteinemia
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Requisition
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CASQ2
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Catecholamine-Induced Polymorphic Ventricular Tachycardia
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Requisition
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CAV3
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Caveolinopathies, Long QT Syndrome, Sudden Infant Death Syndrome
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Requisition
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DES
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Desmin-related Myopathy, Dilated Cardiomyopathy, Cardiomyopathy, Distal Myopathy
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Requisition
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EMD
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Emery-Dreifuss Muscular Dystrophy
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Requisition
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FBN1
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Marfan Syndrome, Neonatal Marfan Syndrome, Isolated Skeletal Features of Marfan Syndrome, Autosomal Dominant Ectopia Lentis, Aortic Aneurysm
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Requisition
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FOXH1
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Isolated Congenital Heart Disease, Heterotaxy Syndrome, Holoprosencephaly
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Requisition
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KCNJ2
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Andersen-Tawil Syndrome, Long QT Syndrome
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Requisition
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LAMP2
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Danon Disease, Hypertrophic or Dilated Cardiomyopathy with Skeletal Myopathy and / or Wolff-Parkinson-White Syndrome
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Requisition
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LDB3
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Dilated Cardiomyopathy, Left Ventricular Noncompaction, Myofibrillar Myopathy
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Requisition
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LDLR
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Familial Hypercholesterolemia
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Requisition
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LMNA
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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
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Requisition
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MYH7
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Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Left Ventricular Noncompaction
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Requisition
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MYH11
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Familial Thoracic Aortic Aneurysm and Dissection
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Requisition
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MYBPC3
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Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Left Ventricular Noncompaction
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Requisition
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MYL2
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Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Left Ventricular Noncompaction
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Requisition
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MYL3
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Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Left Ventricular Noncompaction
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Requisition
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NKX2.5
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Isolated Nonsyndromic Congenital Heart Disease, Familial atrial septal defects with AV block
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Requisition
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NODAL
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Heterotaxy Syndrome, Isolated Congenital Heart Disease, Holoprosencephaly
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Requisition
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SCO2
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Hypertrophic Cardiomyopathy, Encephalopathy, COX Deficiency, Leigh Syndrome
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Requisition
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SKI
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Thoracic Aortic Aneurysms and Aortic Dissections
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Requisition
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SURF1
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Leigh Syndrome, COX Deficiency
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Requisition
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TAZ
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Barth Syndrome, Dilated Cardiomyopathy, Left Ventricular Noncompaction, Endocardial Fibroelastosis
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Requisition
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TBX1
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22q11.2 Deletion Syndrome, Velocardiofacial Syndrome, DiGeorge Syndrome
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Requisition
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TBX5
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Holt-Oram Syndrome
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Requisition
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TGFBR1
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Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm / Dissection, Type 5 (AAT5), Furlong Syndrome, Marfan Syndrome
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Requisition
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TGFBR2
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Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm / Dissection, Type 3 (AAT3), Marfan Syndrome
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Requisition
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TTN
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Cardiomyopathies
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Requisition
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TNNT2
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Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Left Ventricular Noncompaction
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Requisition
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ZIC3
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X-linked Heterotaxy, Isolated Congenital Heart Disease
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Requisition
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