Molecular Diagnostics

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We are committed to providing our referring physicians with tools and resources that will enable them to make informed decisions on disease management and help stratify the risk in affected families.

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  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by fibrofatty infiltration of the right ventricle. ARVC is a genetically determined heart muscle d...

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  • Brugada Syndrome (BrS) is an arrhythmogenic disease characterized by ST-segment elevation on ECG, incomplete right bundle-branch block, and increased risk of sudden card...

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  • Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited, highly lethal arrhythmogenic cardiac disorder characterized by ventricular tachycardia in th...

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  • The CHARGE acronym refers to this syndrome's characteristic phenotype: coloboma, heart anomaly, atresia of choanae, retardation of physical and mental development, genita...

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  • CYP2C19 enzyme catalyzes the bioactivation of the antiplatelet prodrug, clopidogrel. Patients who are CYP2C19 poor metabolizers may have diminished effectiveness of the d...

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  • Dilated cardiomyopathy (DCM) is considered to be the “final common pathway” of numerous types of cardiac injuries. It is classified as a mixed cardiomyopathy due to t...

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  • Fabry disease is a lysomal storage disorder resulting from deficient or absent activity of the lysosomal enzyme, α- galactosidase A, and the resultant accumulation of gl...

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  • Prothrombin thrombophilia is the second most common inherited thrombophilia. This presents mostly in adults as deep vein thrombosis that progress to pulmonary embolism.

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  • Factor V Leiden is the most common inherited thrombophilia. It usually presents as deep vein thrombosis or pulmonary embolism. It is characterized by poor anticoagulant r...

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  • Transthyretin amyloidosis, the most common form of familial amyloidosis, is a systemic disorder characterized by the extracellular deposition of amyloid fibrils causing o...

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  • Hereditary Hemochromatosis is a disorder of iron metabolism wherein the body accumulates excess iron. High iron absorption by the gastrointestinal mucosa is evident in HF...

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  • Holt-Oram syndrome, one of the most common heart-hand syndromes, is characterized by malformations of the upper limbs and variable cardiac defects.

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  • Hypertrophic cardiomyopathy (HCM), the most common of the genetic cardiovascular diseases, is characterized by heterogeneous clinical expression, unique pathophysiology a...

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