Familial Chylomicronemia Panel

Casandra

Casandra Test Code PG22277Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 13025CPT Code 81479

Familial Chylomicronemia Panel

Clinical Use

Use

The Familial Chylomicronemia Panel is designed for individuals with features suggestive of Familial Chylomicronemia Syndrome (FCS) or those requiring genetic confirmation to differentiate FCS from multifactorial chylomicronemia syndrome or lipodystrophy. This panel tests for mutations across 7 genes that are instrumental in diagnosing FCS, providing critical information for accurate diagnosis and management.

Special Instructions

This panel can be ordered using the exome or genome platform. The specimen types accepted are Blood, DNA, Buccal, Saliva, and Tissue for the exome platform, and Blood or DNA for the genome platform. Order options include exome-wide CNV analysis for an additional fee. STAT testing is available with a 25% surcharge.

Limitations

This genetic test is designed to detect mutations within the specified 7 gene targets and may not identify all genetic causes of chylomicronemia. Negative results do not exclude a genetic component to disease; additional genetic factors may exist that are not covered by this panel. The test is not cleared or approved by the US FDA and is meant to be used as a diagnostic aid.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

This component utilizes NGS on either exome or genome platforms to analyze CNVs and detect mutations in 7 key genes related to Familial Chylomicronemia Syndrome.

NGS with CNV Analysis • CGP