Uncovering Rare Obesity Gene Panel
Use
The Uncovering Rare Obesity Gene Panel aims to identify gene variants that may cause or predispose an individual to rare genetic diseases of obesity. These conditions are associated with early-onset, severe obesity and may be accompanied by symptoms such as insatiable hunger. By detecting causative gene variants, the test supports the diagnosis and potential management of these disorders, providing valuable insights for clinical care and research.
Special Instructions
Testing is provided at no charge to eligible patients under a program sponsored by Rhythm Pharmaceuticals. Eligibility requires meeting specific clinical criteria such as age and obesity metrics, or having a suspected or confirmed diagnosis of Bardet-Biedl syndrome. Testing is available only for patients located in the United States, its territories, and Canada, and select family members of previously tested patients may also qualify.
Limitations
The test's genetic analysis focuses on detecting variants in a set of 87 genes and 1 chromosomal region linked to rare genetic diseases of obesity. While comprehensive for the covered genes, results may not conclusively establish a diagnosis in all cases due to the complexity of genetic influences on obesity. Negative results do not rule out genetic conditions, as they may be due to variants in genes not covered by the panel or those with unidentified significance. Furthermore, test performance may be affected by factors like specimen quality and pre-test clinical evaluations.
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
Collection Instructions
Blood samples should be collected ensuring no contamination. Follow standard phlebotomy procedures.
Causes for Rejection
Specimen contamination or improper labeling.