HCMNext®
Use
HCMNext is a multi-gene panel designed for patients with hypertrophic cardiomyopathy (HCM). Genetic testing through this panel helps identify at-risk individuals by detecting mutations in 30 genes associated with HCM, which is critical because HCM can be asymptomatic and sudden cardiac arrest may be the first symptom. The panel's analysis is comprehensive for diagnosing HCM and identifying inherited mutations, allowing for better medical management, risk assessment, and confirmation of diagnosis.
Special Instructions
Not provided.
Limitations
The HCMNext test is capable of detecting >99% of described mutations in the genes it covers. However, the clinical sensitivity may vary depending on the specific clinical and family history. Exon-level resolution may not be achieved for every gene. Potentially homozygous variants and regions with low read depth require Sanger sequencing for verification, which might influence turnaround times.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5-10 mL
Minimum Volume
5 mL
Container
EDTA tube
Collection Instructions
Standard phlebotomy procedures.
Storage Instructions
Store at room temperature or refrigerate until shipping.
Causes for Rejection
Hemolysis, insufficient sample volume, improper labeling
Other tests from different labs that may be relevant