Test Descriptions Found:

448

Cardiovascular Disorders

CMA

Andersen Tawil Syndrome

Test Available Sequencing Del/Dup Other
Andersen-Tawil Syndrome/Long QT Syndrome via the KCNJ2 Gene$440.00$690.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Long QT Syndrome Sequencing Panel$1740.00$1290.00
Primary Periodic Paralysis Sequencing Panel$1490.00$770.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Aortic Aneurysm

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel$1590.00$840.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the ACTA2 gene$650.00$690.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the MYH11 gene$990.00$690.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the MYLK Gene$990.00$690.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the PRKG1 Gene$990.00

Aortic Valve Disorder

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote

Arrhythmogenic Right Ventricular Cardiomyopathy

Test Available Sequencing Del/Dup Other
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene$990.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel$1540.00$840.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSC2 Gene$910.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSG2 Gene$940.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene$840.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TGFB3 Gene$680.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TMEM43 Gene$780.00$690.00
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel$1590.00$840.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene$990.00$690.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Epidermolysis Bullosa and Related Disorders Sequencing Panel$1830.00$1290.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Naxos Disease and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the JUP Gene$750.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Arterial Calcification Of Infancy

Test Available Sequencing Del/Dup Other
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel$1770.00$690.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel$2540.00$730.00

Atrial Fibrillation

Test Available Sequencing Del/Dup Other
Atrial Fibrillation Syndrome via the KCNA5 Gene$250.00
Atrial Fibrillation Syndrome via the MYL4 Gene$710.00
Atrial Fibrillation Syndrome via the NPPA Gene$490.00
Atrial Fibrillation via the GJA5 Gene$490.00$690.00
Atrial Fibrillation via the SCN2B Gene$990.00
Cantu Syndrome via the ABCC9 Gene$990.00$690.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Familial Atrial Fibrillation Syndrome Sequencing Panel$1740.00$840.00
Long QT Syndrome and Jervell and Lange-Nielsen syndrome via the KCNQ1 Gene$990.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Atrial Myxoma

Test Available Sequencing Del/Dup Other
Carney Complex (CNC) via the PRKAR1A Gene$750.00$690.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote

Atrial Septal Defect

Test Available Sequencing Del/Dup Other
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the MYH6 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the ACTC1 Gene$610.00$690.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Isolated Nonsyndromic Congenital Heart Defects via the GATA4 Gene$650.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00

Atrial Septal Defect With Atrioventricular Conduction Defects

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene$490.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00

Atrioventricular Septal Defect

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Isolated Nonsyndromic Congenital Heart Defects via the GATA4 Gene$650.00$690.00

Brugada Syndrome

Test Available Sequencing Del/Dup Other
Brugada Syndrome 1 via the SCN5A Gene$990.00$690.00
Brugada Syndrome Sequencing Panel$1790.00$840.00
Brugada Syndrome via the CACNB2 Gene$990.00$690.00
Brugada Syndrome via the GPD1L Gene$710.00$690.00
Brugada Syndrome via the KCND3 Gene$990.00
Brugada Syndrome via the KCNE3 Gene$250.00$690.00
Brugada Syndrome via the SCN1B Gene$680.00$690.00
Brugada Syndrome via the SCN3B Gene$580.00$690.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Fetal and Neonatal Loss Panel
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Fetal Concerns Sequencing Panel$1590.00
Long QT Syndrome Sequencing Panel$1740.00$1290.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Short QT Syndrome Sequencing Panel$1740.00$840.00
Sick Sinus Syndrome and Brugada Syndrome via the HCN4 Gene$960.00$690.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00
Timothy Syndrome and Brugada Syndrome via the CACNA1C Gene$990.00$690.00

Cantu Syndrome

Test Available Sequencing Del/Dup Other
Cantu Syndrome via the ABCC9 Gene$990.00$690.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

cardiac arrhythmia

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00

Cardio-Facio-Cutaneous syndrome

Test Available Sequencing Del/Dup Other
BRAF-Related Disorders via the BRAF Gene$990.00$690.00
Cardio-Facio-Cutaneous Syndrome via the MAP2K1 Gene$910.00$690.00
Cardio-Facio-Cutaneous Syndrome via the MAP2K2 Gene$730.00$690.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Fetal and Neonatal Loss Panel
Fetal Concerns Sequencing Panel$1590.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
KRAS-Related Disorders via the KRAS Gene$490.00$690.00
Noonan Spectrum Disorders/Rasopathies Sequencing Panel$1290.00$1290.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00

Cardiomyopathy

Test Available Sequencing Del/Dup Other
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Dystrophinopathy via the DMD Gene$990.00$690.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Carney Complex

Test Available Sequencing Del/Dup Other
Carney Complex (CNC) via the PRKAR1A Gene$750.00$690.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Arthrogryposis Sequencing Panel$2690.00$840.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Tropomyosin 2-Related Disorders via the TPM2 Gene$610.00$690.00

Catecholaminergic Polymorphic Ventricular Tachycardia

Test Available Sequencing Del/Dup Other
Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome via the CALM1 Gene$650.00
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel$1590.00$840.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the CASQ2 gene$770.00$690.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene$990.00$690.00
Catecholaminergic Polymorphic Ventricular Tachycardia via the TRDN Gene$990.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Test Available Sequencing Del/Dup Other
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) via the NOTCH3 Gene$990.00

Char Syndrome

Test Available Sequencing Del/Dup Other
Char Syndrome via the TFAP2B Gene$710.00$690.00

Combined Oxidative Phosphorylation Deficiency

Test Available Sequencing Del/Dup Other
AIFM1-Related Disorders via the AIFM1 Gene$990.00$690.00
C12orf65-Associated Optic Atrophy via the C12orf65 Gene$990.00$690.00
Combined Oxidative Phosphorylation Deficiency 14 via the FARS2 Gene$650.00$690.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1290.00$1670.00
Mitochondrial Combined Oxidative Phosphorylation Deficiency via the MTFMT Gene$810.00
Mitochondrial Complex V Deficiency via the ATP5A1 Gene$940.00
MRPL3-Related Combined Oxidative Phosphorylation Deficiency via the MRPL3 Gene$810.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
TSFM-Related Combined Oxidative Phosphorylation Deficiency via the TSFM Gene$780.00

Conotruncal Heart Malformations

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Heterotaxy and Conotruncal Heart Defects via the GDF1 Gene$580.00$690.00
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel$2140.00$1290.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene$490.00$690.00

Costello Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Fetal and Neonatal Loss Panel
Costello Syndrome via the HRAS Gene$440.00$690.00
Fetal Concerns Sequencing Panel$1590.00
Noonan Spectrum Disorders/Rasopathies Sequencing Panel$1290.00$1290.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00

Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities

Test Available Sequencing Del/Dup Other
Cutis Laxa via the LTBP4 Gene$1440.00$690.00

Danon Disease

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Danon Disease/Glycogen Storage Disease IIb via the LAMP2 Gene$690.00$690.00
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel$1890.00$1290.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Diaphragmatic Hernia

Test Available Sequencing Del/Dup Other
Isolated Nonsyndromic Congenital Heart Defects via the ZFPM2 (FOG2) Gene$930.00$690.00

Dilated Cardiomyopathy

Test Available Sequencing Del/Dup Other
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene$990.00$690.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSG2 Gene$940.00$690.00
Cantu Syndrome via the ABCC9 Gene$990.00$690.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Dilated Cardiomyopathy and Limb-Girdle Muscular Dystrophy Type 2F via the SGCD Gene$650.00$690.00
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Dilated Cardiomyopathy via the LAMA4 Gene$990.00
Dilated Cardiomyopathy via the NEXN Gene$990.00
Dilated Cardiomyopathy via the RBM20 Gene$990.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the ACTN2 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the CSRP3 Gene$540.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the MYH6 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the PLN Gene$370.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the TPM1 Gene$680.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the VCL Gene$990.00$690.00
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the ACTC1 Gene$610.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the TNNI3 Gene$650.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the TNNT2 Gene$840.00$690.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Hypertrophic Cardiomyopathy via the TNNC1 Gene$540.00$690.00
Laminopathies via the LMNA Gene$610.00$690.00
Left Ventricular Noncompaction (LVNC) Sequencing Panel$1540.00$840.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00
Telethoninopathy via the TCAP Gene$440.00$690.00

Ehlers-Danlos Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Distal Arthrogryposis Sequencing Panel$2690.00$840.00
Ehlers-Danlos Syndrome Sequencing Panel$1890.00$840.00
Ehlers-Danlos syndrome via the TNXB Gene$1990.00$690.00
Ehlers-Danlos syndrome via the TNXB Gene, Exon 35$250.00$690.00
Ehlers-Danlos Syndrome with Progressive Kyphosis, Myopathy, and Hearing Loss (EDSKMH) via the FKBP14 Gene$580.00
Ehlers-Danlos Syndrome, Classic Type via the COL5A1 Gene$990.00$690.00
Ehlers-Danlos Syndrome, Classic Type via the COL5A2 Gene$990.00$690.00
Ehlers-Danlos Syndrome, Kyphoscoliotic Form via the PLOD1 Gene$990.00$690.00
Ehlers-Danlos Syndrome, Type IV via the COL3A1 Gene$990.00$690.00
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel$1590.00$840.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
MYH3-Related Distal Arthrogryposis via the MYH3 Gene$990.00$690.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel$2390.00$730.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel$2540.00$730.00
Osteogenesis Imperfecta via the COL1A1 Gene$990.00
Osteogenesis Imperfecta via the COL1A2 Gene$990.00

Ehlers-Danlos-Like Syndrome

Test Available Sequencing Del/Dup Other
Ehlers-Danlos syndrome via the TNXB Gene$1990.00$690.00
Ehlers-Danlos syndrome via the TNXB Gene, Exon 35$250.00$690.00

Emery-Dreifuss muscular dystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Muscular Dystrophy Sequencing Panel$2140.00$1290.00
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Emery-Dreifuss Muscular Dystrophy (EDMD1) via the EMD Gene$550.00$690.00
FHL1-Myopathies via the FHL1 Gene$680.00
Laminopathies via the LMNA Gene$610.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Spinocerebellar Ataxia, Autosomal Recessive-8 via the SYNE1 Gene Exons 2-146$990.00$690.00

Fabry Disease

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Fabry Disease via the GLA Gene$610.00$690.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00

Familial Hypertrophic Cardiomyopathy

Test Available Sequencing Del/Dup Other
Caveolinopathy via the CAV3 Gene$440.00$690.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene$990.00$690.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Glycogen Storage Disease Of Heart, Lethal Congenital

Test Available Sequencing Del/Dup Other
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel$1890.00$1290.00
PRKAG2-Related Disorders via the PRKAG2 Gene$910.00$690.00

Hemochromatosis

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Hereditary Hemochromatosis Sequencing Panel$1490.00$730.00
Hereditary Hemochromatosis via the HFE gene$610.00$690.00
Hereditary Hemochromatosis via the SLC40A1 Gene$870.00$690.00
Hereditary Hemochromatosis via the TFR2 Gene$990.00
Juvenile Hereditary Hemochromatosis via the HAMP Gene$440.00
Juvenile Hereditary Hemochromatosis via the HFE2 (HJV) Gene$650.00
Male Infertility Sequencing Panel$2190.00$1670.00

Hereditary Hemorrhagic Telangiectasia

Test Available Sequencing Del/Dup Other
Cancer Sequencing and Deletion/Duplication Panel$1390.00
Colorectal Cancer Sequencing And Deletion/Duplication Panel$1190.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel$1440.00$770.00
Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2) via the ACVRL1/ALK1 Gene$770.00$690.00
Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT) via the SMAD4 Gene$770.00$690.00

Heterotaxy

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Heterotaxy via the LEFTY2 Gene$490.00
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel$2140.00$1290.00
Heterotaxy, Visceral 4 (HTX4) via the ACVR2B Gene$810.00$690.00
X-linked Heterotaxy (HTX1) via the ZIC3 Gene$590.00$690.00

Holt-Oram Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Holt-Oram Syndrome (HOS) via the TBX5 Gene$710.00$690.00

Hutchinson-Gilford Progeria

Test Available Sequencing Del/Dup Other
Hutchinson-Gilford Progeria Syndrome (HGPS) via the LMNA Gene$610.00$690.00
Laminopathies via the LMNA Gene$610.00$690.00

Hyperlipoproteinemia

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Familial Lipoprotein Lipase Deficiency via the LPL Gene$750.00

Hypertension and Brachydactyly Syndrome

Test Available Sequencing Del/Dup Other
Hypertension and Brachydactyly Syndrome via the PDE3A Gene$1190.00

Hypertrophic Cardiomyopathy

Test Available Sequencing Del/Dup Other
Caveolinopathy via the CAV3 Gene$440.00$690.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Dilated Cardiomyopathy via the NEXN Gene$990.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the CSRP3 Gene$540.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the MYH6 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the PLN Gene$370.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the TPM1 Gene$680.00$690.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the VCL Gene$990.00$690.00
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the ACTC1 Gene$610.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the TNNI3 Gene$650.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the TNNT2 Gene$840.00$690.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Hypertrophic Cardiomyopathy via the MYBPC3 Gene$990.00$690.00
Hypertrophic Cardiomyopathy via the MYL2 Gene$580.00$690.00
Hypertrophic Cardiomyopathy via the MYL3 Gene$540.00$690.00
Hypertrophic Cardiomyopathy via the TNNC1 Gene$540.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
PRKAG2-Related Disorders via the PRKAG2 Gene$910.00$690.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Hypoplastic Left Heart Syndrome

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene$490.00$690.00

Jervell And Lange-Nielsen Syndrome

Test Available Sequencing Del/Dup Other
Long QT Syndrome and Jervell and Lange-Nielsen Syndrome via the KCNE1 Gene$440.00$690.00
Long QT Syndrome and Jervell and Lange-Nielsen syndrome via the KCNQ1 Gene$990.00$690.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Left ventricular noncompaction

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Left Ventricular Noncompaction (LVNC) Sequencing Panel$1540.00$840.00
Left Ventricular Noncompaction (LVNC) via the DTNA Gene$990.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

LEOPARD Syndrome

Test Available Sequencing Del/Dup Other
BRAF-Related Disorders via the BRAF Gene$990.00$690.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Noonan Spectrum Disorders/Rasopathies Sequencing Panel$1290.00$1290.00
PTPN11-Related Disorders via the PTPN11 Gene$940.00$690.00
RAF1-Related Disorders via the RAF1 Gene$970.00$690.00

Loeys-Dietz syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel$1590.00$840.00
Loeys-Dietz Syndrome 4 via the TGFB2 Gene$710.00$690.00
Loeys-Dietz Syndrome Sequencing Panel$1490.00$840.00
Loeys-Dietz Syndrome via the TGFBR1 Gene$710.00$690.00
Loeys-Dietz Syndrome via the TGFBR2 Gene$710.00$690.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the SMAD3 gene$780.00$690.00

Long QT Syndrome

Test Available Sequencing Del/Dup Other
Brugada Syndrome 1 via the SCN5A Gene$990.00$690.00
Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome via the CALM1 Gene$650.00
Caveolinopathy via the CAV3 Gene$440.00$690.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Fetal and Neonatal Loss Panel
Fetal Concerns Sequencing Panel$1590.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Long QT Syndrome and Jervell and Lange-Nielsen Syndrome via the KCNE1 Gene$440.00$690.00
Long QT Syndrome and Jervell and Lange-Nielsen syndrome via the KCNQ1 Gene$990.00$690.00
Long QT Syndrome Sequencing Panel$1740.00$1290.00
Long QT Syndrome via the AKAP9 Gene$990.00$690.00
Long QT Syndrome via the ANK2 Gene$990.00$690.00
Long QT Syndrome via the CALM2 Gene$990.00
Long QT Syndrome via the KCNE2 Gene$370.00$690.00
Long QT Syndrome via the KCNH2 Gene$990.00$690.00
Long QT Syndrome via the KCNJ5 Gene$580.00$690.00
Long QT Syndrome via the SCN4B Gene$610.00$690.00
Long QT syndrome via the SNTA1 Gene$710.00$690.00
Majeed Syndrome via the LPIN2 Gene$990.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00
Short QT Syndrome Sequencing Panel$1740.00$840.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Marfan Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel$1590.00$840.00
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Marfan Syndrome via the FBN1 Gene$990.00$690.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Mitochondrial Phosphate Carrier Deficiency

Test Available Sequencing Del/Dup Other
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Mitochondrial Phosphate Carrier Deficiency via the SLC25A3 Gene$710.00$690.00

Multisystemic Smooth Muscle Dysfunction Syndrome

Test Available Sequencing Del/Dup Other
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Thoracic Aortic Aneurysm and Dissection (TAAD) via the ACTA2 gene$650.00$690.00

Myopathy

Test Available Sequencing Del/Dup Other
Autosomal Dominant Limb Girdle Muscular Dystrophy (LGMD) Sequencing Panel$1590.00$840.00
Comprehensive Fetal and Neonatal Loss Panel
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Compton-North Congenital Myopathy via the CNTN1 Gene$990.00$690.00
Congenital Fiber Type Disproportion Sequencing Panel$1690.00$840.00
Congenital Myasthenic Syndrome Sequencing Panel$1690.00$1290.00
Congenital Myopathy Sequencing Panel$2190.00$1290.00
Core Myopathy Sequencing Panel$1790.00$840.00
Distal Hereditary Myopathy Sequencing Panel$1690.00$1290.00
Distal Myopathy 2 via the MATR3 Gene$840.00$690.00
Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) via the MEGF10 Gene$990.00$690.00
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel$1440.00$1290.00
Fetal Concerns Sequencing Panel$1590.00
FHL1-Myopathies via the FHL1 Gene$680.00
GLE1-Related Disorders via the GLE1 Gene$990.00$690.00
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene$990.00$690.00
Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy via the DYSF Gene$990.00$690.00
Limb Girdle Muscular Dystrophy, Type 2J and Tibial Muscular Dystrophy via the TTN Gene (exons 307 - 312)$1220.00$690.00
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel$1790.00$1670.00
Myofibrillar Myopathy Sequencing Panel$1490.00$840.00
Myopathy with Lactic Acidosis via the ISCU Gene$610.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Tubular Aggregate Myopathy via the STIM1 Gene$840.00$690.00
Welander Distal Myopathy via the TIA1 Gene$940.00

Naxos Disease

Test Available Sequencing Del/Dup Other
Epidermolysis Bullosa and Related Disorders Sequencing Panel$1830.00$1290.00
Naxos Disease and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the JUP Gene$750.00$690.00

Neurofibromatosis-Noonan Syndrome

Test Available Sequencing Del/Dup Other
Neurofibromatosis Type 1 and Legius Syndrome Sequencing Panel$1440.00$960.00
Neurofibromatosis Type 1 and Related Disorders via the NF1 Gene$990.00$540.00

Noonan Syndrome

Test Available Sequencing Del/Dup Other
BRAF-Related Disorders via the BRAF Gene$990.00$690.00
CBL-Related Disorders via the CBL Gene$990.00$690.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Comprehensive Fetal and Neonatal Loss Panel
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Fetal Concerns Sequencing Panel$1590.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
KRAS-Related Disorders via the KRAS Gene$490.00$690.00
Noonan Spectrum Disorders/Rasopathies Sequencing Panel$1290.00$1290.00
Noonan Syndrome via the LZTR1 Gene$990.00
Noonan Syndrome via the NRAS Gene$490.00$690.00
Noonan Syndrome via the RIT1 Gene$680.00
Noonan Syndrome via the SOS1 Gene$990.00$690.00
Noonan Syndrome via the SOS2 Gene$990.00
Noonan-Like Syndrome with Loose Anagen Hair via the SHOC2 Gene$710.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
PTPN11-Related Disorders via the PTPN11 Gene$940.00$690.00
RAF1-Related Disorders via the RAF1 Gene$970.00$690.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Progressive Familial Heart Block

Test Available Sequencing Del/Dup Other
Brugada Syndrome 1 via the SCN5A Gene$990.00$690.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Progressive Familial Heart Block via the TRPM4 Gene$990.00

Pulmonary Arterial Hypertension

Test Available Sequencing Del/Dup Other
Pulmonary Arterial Hypertension (PAH) via the BMPR2 Gene$1130.00$690.00

Restrictive Cardiomyopathy

Test Available Sequencing Del/Dup Other
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Hypertrophic Cardiomyopathy and Related Disorders via the TNNI3 Gene$650.00$690.00
Hypertrophic Cardiomyopathy and Related Disorders via the TNNT2 Gene$840.00$690.00
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00

Sengers syndrome

Test Available Sequencing Del/Dup Other
Congenital Cataracts Sequencing Panel$1840.00$840.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Sengers Syndrome via the AGK Gene$990.00$690.00

Short QT Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Long QT Syndrome and Jervell and Lange-Nielsen syndrome via the KCNQ1 Gene$990.00$690.00
Long QT Syndrome via the KCNH2 Gene$990.00$690.00
Short QT Syndrome Sequencing Panel$1740.00$840.00

Shprintzen-Goldberg Syndrome

Test Available Sequencing Del/Dup Other
Marfan Syndrome and Related Aortopathies Sequencing Panel$1490.00$1290.00
Shprintzen-Goldberg Syndrome via the SKI Gene$780.00$690.00

Sick Sinus Syndrome

Test Available Sequencing Del/Dup Other
Brugada Syndrome 1 via the SCN5A Gene$990.00$690.00
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
Sick Sinus Syndrome and Brugada Syndrome via the HCN4 Gene$960.00$690.00

Sitosterolemia

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Sitosterolemia Sequencing Panel$1440.00
Sitosterolemia via the ABCG5 Gene$870.00
Sitosterolemia via the ABCG8 Gene$940.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00

Supravalvar Aortic Stenosis

Test Available Sequencing Del/Dup Other
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via the ELN Gene$990.00$690.00

Surfactant Metabolism Dysfunction

Test Available Sequencing Del/Dup Other
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel$1490.00$840.00
Surfactant Protein B Deficiency via the SFTPB Gene$810.00$690.00
Surfactant Protein C Deficiency via the SFTPC gene$650.00$690.00

Tetralogy of Fallot

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Heterotaxy and Conotruncal Heart Defects via the GDF1 Gene$580.00$690.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene$490.00$690.00
Isolated Nonsyndromic Congenital Heart Defects via the ZFPM2 (FOG2) Gene$930.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00

Timothy Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Long QT Syndrome Sequencing Panel$1740.00$1290.00
Short QT Syndrome Sequencing Panel$1740.00$840.00
Sudden Cardiac Arrest Sequencing Panel$1800.00$1670.00
Timothy Syndrome and Brugada Syndrome via the CACNA1C Gene$990.00$690.00

Transposition Of The Great Arteries, Dextro-Looped 3

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Heterotaxy and Conotruncal Heart Defects via the GDF1 Gene$580.00$690.00

Ventricular Septal Defect

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Dilated Cardiomyopathy Sequencing Panel$1890.00$1670.00
Isolated Nonsyndromic Congenital Heart Defects via the GATA4 Gene$650.00$690.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene$490.00$690.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00

Wieacker-Wolff Syndrome

Test Available Sequencing Del/Dup Other
Wieacker-Wolff Syndrome via the ZC4H2 Gene$610.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Wolff-Parkinson-White Pattern

Test Available Sequencing Del/Dup Other
Comprehensive Cardiac Arrhythmia Sequencing Panel$2390.00$1670.00
Comprehensive Cardiology Sequencing Panel$2400.00$Call for Quote
Hypertrophic Cardiomyopathy Sequencing Panel$1770.00$1290.00
Pan Cardiomyopathy Sequencing Panel$1980.00$1670.00
PRKAG2-Related Disorders via the PRKAG2 Gene$910.00$690.00

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