Restrictive cardiomyopathy is a heart disease characterized by impaired ventricular filling in the absence of myocardial hypertrophy or significant impairment of systolic function. Patients usually present signs and symptoms of heart failure and increased mortality rate, requiring heart transplantation in many cases. Although many of the genes associated with this disease are associated with other types of cardiomyopathies (particularly hypertrophic and dilated), there are some predominantly related to this phenotype.
The probability of identifying a likely causal mutation in a patient under suspicion of restrictive cardiomyopathy is approximately 50%. The diagnostic yield is higher in cases with a clear phenotype and family history of the disease.
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Mon–Thur: 8am – 5pm
5. Result: the report
Via: Client Site HIC / Client Site Imegen / Certified email
"*" indicates required fields
Turnaround time (TAT): 4 weeks
Ref. S-201906393
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.
Panel that include restrictive cardiomyopathy genes
Panel that include restrictive cardiomyopathy genes
Panel that include restrictive cardiomyopathy genes
