Hypobetalipoproteinemia Gene Panel, Varies

Clinical Use

Use

The Hypobetalipoproteinemia Gene Panel provides a genetic evaluation for patients with a personal or family history suggestive of familial hypobetalipoproteinemia. This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in five genes associated with this condition: ANGPTL3, APOB, MTTP, PCSK9, and SAR1B. Identifying a disease-causing variant can assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for familial hypobetalipoproteinemia.

Special Instructions

Not provided.

Limitations

Next-generation sequencing may not detect all genomic variants. False-negative or false-positive results can occur due to variable depth of coverage. Some target regions may not meet assay performance criteria, risking inadequate evaluation. Approximately 95% of deletions up to 75 bp and insertions up to 47 bp can be detected. Structural rearrangements like translocations may not be identified. Low mosaicism levels and distinction between somatic and germline mutations are undetectable. Regions with homology, high GC content, or repetitiveness pose technical challenges.

Test Details

New York Approved