The Color Hereditary Heart Health Test analyzes 30 genes associated with inherited heart conditions that have actionable treatment plans, as recognized by the American College of Medical Genetics and Genomics.
The conditions covered by the Hereditary Heart Health Test include:
- Cardiomyopathy: An abnormality of the heart muscle making it harder for the heart to pump blood to the body
- Arrhythmia: An abnormality of the heart rhythm causing the heart to beat too fast, too slow or irregularly
- Arteriopathy: Problems with the structure of the arteries in many parts of the body, including the heart
- Familial Hypercholesterolemia (FH): Causes very high cholesterol from a young age and makes you more likely to get coronary heart disease.
Genes analyzed: ACTA2, ACTC1, APOB, COL3A1, SC2, DSG2, DSP, FBN1, GLA, KCNH2, KCNQ1, LDLR, LMNA, MYBPC3, MYH7, MYH11, MYL2, MYL3, PCSK9, PKP2, PRKAG2, RYR2, SCN5A, SMAD3, TGFBR1, TGFBR2, TMEM43, TNNI3, TNNT2, TPM1
*Several regions that cannot be reliably assessed with standard target enrichment protocols are not analyzed: KCNH2 exon 4, KCNQ1 exon 1, and TGFBR1 exon 1. In APOB, only positions known to impact FH risk are analyzed: only chr2:g.21229159_21229161 (APOB codon 3527) is analyzed. For the LDLR promoter region, the detection of deletions, duplications, and complex structural rearrangements may be limited.
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