It covers the entire spectrum of cardiomyopathy presentations (hypertrophic, dilated, restrictive, arrhythmogenic, and non-compaction). It also includes RASopathies, storage diseases, and some mitochondrial disorders of nuclear DNA origin, which may present a cardiomyopathy as one of the main manifestations.
This panel is aimed at the diagnosis of cases presenting some degree of myocardial involvement, but where the phenotype is not completely clear or there are some diagnostic uncertainties. It should also be considered when there is overlapping between phenotypes either in the patient or in the family, which is not infrequent in clinical practice. It is useful since:
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 Monday–Friday: 8am – 5pm
5. Result: the report
Via: e-mail and/or through the customer portal
"*" indicates required fields
Turnaround time (TAT): 25 days
Ref. S-201906396
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.
