Hypertrophic cardiomyopathy is a genetically based disease in which the thickening of the ventricular wall is observed without an external cause that justifies it. This disease has an associated risk of comorbidity, development of heart failure, ventricular arrhythmias, and sudden death, so early identification of causal genetic variant carriers would help prevent complications.
The prevalence of this disease is approximately 1 in 500 individuals.
The probability of detecting a causal genetic variant of the disease in a patient with suspected familial hypertrophic cardiomyopathy is approximately 50%.
How to order
1. Download & fill out
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2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
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4. Send the sample & the request
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5. Result: the report
Via: e-mail and/or through the customer portal
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Turnaround time (TAT): 25 days
Ref. S-201906389
This panel includes the genes with the highest level of evidence and most prevalent for the development of primary hypertrophic cardiomyopathy, as well as genes associated with the main phenocopies of this pathology (diseases that can simulate a primary cardiomyopathy, but that respond to a different genetic origin that generally causes a systemic disease).
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
It includes both major sarcomeric genes, all disease phenocopies, and minor and candidate genes emerging from a systematic review of the literature. It is indicated when:
