| > Lab Requisition.pdf |
| > Informed Consent for Genetic Testing.pdf |
| > Advance Beneficiary Notice of Noncoverage.pdf |
| > Private Insurance Noncoverage Acknowledgement.pdf |
| Testing | MYBPC3, MYH7, TNNT2, TNNI3, TPM1, ACTC1, MYL2, MYL3, LAMP2, GLA, PRKAG2, TTR |
| Methodology | DNA sequencing by capillary electrophoresis |
| Indications for Molecular Testing | Comprehensive or targeted (MYBPC3, MYH7, TNNI3, TNNT2, TPM1) HCM genetic testing is recommended for any patient in whom a cardiologist has established a clinical diagnosis of HCM based on examination of the patient’s clinical history, family history, and electrocardiographic/echocardiographic phenotype. Mutation-specific genetic testing is recommended for family members and appropriate relatives following the identification of the HCM-causative mutation in an index case.
Disease processes other than HCM, like the cardiac predominate variant of Fabry disease (GLA-HCM), Danon disease (LAMP2-HCM) or Wolf-Parkinson-White syndrome (PRKAG2-HCM) can lead to the common finding of left ventricular hypertrophy. These diseases have different prognoses and clinical management strategies. |
| Clinical Utility | Early diagnosis Phenotype prediction Clinical management of at-risk relatives. Risk stratification |
| Clinical Sensitivity | 40% – 65% |
| Analytic Sensitivity | Substitutions: 100% Small InDels: ~95% |
| Turnaround Time | 6-8 weeks |
| CPT Codes | 81404 x 1, 81405 x 7, 81406 x 2, 81407 x 2 |
| Specimen | Whole blood drawn in lavender top (EDTA) tube in a volume of 3-5cc (Adults/Children) and 3 cc (infant <2 yrs). |
| Shipping | Refrigerate sample until time of shipping. Ship sample at room temperature in an insulated container by overnight delivery. |
| Causes for Rejection | Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container. |
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