Invitae Bardet-Biedl Syndrome Panel
Use
The Invitae Bardet-Biedl Syndrome Panel analyzes genes associated with Bardet-Biedl Syndrome (BBS), a condition characterized by truncal obesity, cognitive impairment, rod-cone dystrophy, and renal abnormalities. Genetic testing for these genes can confirm a diagnosis and guide treatment and management decisions. Identification of a disease-causing variant informs recurrence-risk assessment and genetic counseling.
Special Instructions
The panel offers broad analysis of BBS-associated genes, selected based on current evidence. It allows efficient evaluation by covering various potential genes in a single clinical indication. Phenotype alone may not suffice for definitive diagnosis due to genetic heterogeneity.
Limitations
This assay provides >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp, and exon-level deletions/duplications. However, sensitivity may be slightly reduced for larger insertions/deletions between 15bp and a full exon. Some structural variants or variants in complex sequences may not be detected, and certain details may not be fully resolvable, such as mosaicism and gene conversions.
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)