Invitae Monogenic Obesity Panel
Use
The Invitae Monogenic Obesity Panel analyzes genes associated with severe and early-onset obesity which may be isolated due to endocrine abnormalities or associated with syndromic features. This panel may be appropriate for individuals with hyperphagia and endocrine dysfunction and individuals with obesity and phenotypic changes consistent with a syndromic etiology. Genetic testing of these genes may confirm a suspected diagnosis and help guide treatment and management decisions.
Special Instructions
Turnaround time is 10–21 calendar days (14 days on average). Preferred specimen is 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA). Alternate specimens include saliva, buccal swab, and genomic DNA (gDNA).
Limitations
This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. However, sensitivity for insertions and deletions larger than 15bp but smaller than a full exon may be marginally reduced. Certain types of variants, such as structural rearrangements or variants embedded in sequence with complex architecture, may not be detected. Sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered unless explicitly stated.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)