Comprehensive Cardiomyopathy Gene Panel, Varies
Use
This test provides a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiomyopathy. It aids in establishing a diagnosis of a hereditary form of cardiomyopathy, which is crucial for patient diagnosis, prognosis, clinical management, familial screening, and genetic counseling. Identifying a disease-causing variant can offer significant insights into the hereditary nature of the condition and guide clinical decisions.
Special Instructions
Prior Authorization is available for this test. For cord blood specimens that include a maternal blood specimen, maternal cell contamination studies will be performed at an additional charge. Reflex tests involving fibroblast and amniotic fluid cultures are part of the wider testing algorithm.
Limitations
While this test utilizes next-generation sequencing to identify single nucleotide and copy number variants, it may not detect all potential genetic anomalies associated with hereditary cardiomyopathy. Additionally, the accuracy of mutation detection might be influenced by the quality and type of specimen submitted.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
For cord blood specimens that have an accompanying maternal blood specimen, maternal cell contamination studies will be performed at an additional charge.
