Invitae Hypertrophic Cardiomyopathy Panel
Use
The Invitae Hypertrophic Cardiomyopathy Panel is designed to detect variants associated with hypertrophic cardiomyopathy (HCM) and other related inherited cardiomyopathy disorders. HCM is defined by unexplained left ventricular hypertrophy, which can lead to symptoms like chest pain, heart failure, or cardiac arrest. This test is beneficial for symptomatic individuals to confirm a diagnosis and guide management, as well as for asymptomatic individuals with a known familial variant to assess their risk of developing HCM.
Special Instructions
Not provided.
Limitations
The assay covers key regions of each gene but variants outside these target areas are not analyzed. Detection of certain types of variants such as structural rearrangements or variants in complex genomic regions may be limited. Technical limitations may also affect single-exon copy number events. Sequence changes in promoter, non-coding exons, and other non-coding regions are generally not assessed unless specifically noted. Results may be affected by recent blood transfusions or bone marrow transplants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant