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

Not provided.

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