Lipodystrophy Gene Panel, Varies

Casandra

Casandra Test Code MC73636Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID LIPOGCPT Codes 81406, 81408, 81479

Lipodystrophy Gene Panel, Varies

Clinical Use

Use

The Lipodystrophy Gene Panel is designed for providing a genetic evaluation for patients with a personal or family history suggestive of hereditary lipodystrophy. It aids in establishing a diagnosis of hereditary lipodystrophy by detecting single nucleotide and copy number variants in genes associated with the condition, such as AGPAT2, BSCL2, CAV1, and others. Diagnosing a disease-causing variant can assist with prognosis, clinical management, familial screening, and genetic counseling.

Special Instructions

Prior Authorization is available but not required for this test. If proceeding with prior authorization, the required form should be submitted with the specimen. Customization of this panel and single gene analysis for any gene present on this panel are available.

Limitations

Next-generation sequencing may not detect all types of genomic variants and some gene regions cannot be effectively evaluated due to homology, high guanine-cytosine content, and repetitive sequences. The test's sensitivity is above 95% for deletions up to 75 bp and insertions up to 47 bp. Single and multi-exon deletions/duplications are targeted, but balanced structural rearrangements may not be detected. Not designed to detect low levels of mosaicism or differentiate between somatic and germline variants. A negative result does not rule out the diagnosis of a genetic disorder.

Test Details

New York Approved