Familial Partial Lipodystrophy (FPLD) Panel
Use
This test is designed for individuals with features suggestive of familial partial lipodystrophy or a clinical diagnosis thereof. It aids in the genetic confirmation of the condition by analyzing relevant genes that may underlie the observed phenotypes.
Special Instructions
Specimen types available for the Exome Platform include blood, DNA, buccal, saliva, and tissue. For the Genome Platform, blood and DNA are accepted.
Limitations
While NGS technology is a powerful tool for detecting genetic variants, it may miss certain types of mutations such as those in highly repetitive regions or in areas of homologous sequences. CNV detection accuracy may be influenced by the complexity and size of the variants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided