Bardet-Biedl Syndrome (BBS) Panel
Use
This genetic test is intended for individuals showing features that are relevant for Bardet-Biedl syndrome. It aids in diagnosis by evaluating early-onset symptoms, particularly those presenting in the first year of life. It's particularly useful for distinguishing Bardet-Biedl syndrome from other conditions with overlapping symptoms such as McKusick-Kaufman syndrome, Meckel Syndrome, and Joubert Syndrome, among other ciliopathies.
Special Instructions
Not provided.
Limitations
The test is comprehensive for 27 genes but does not provide complete genomic coverage. There might be some missed variants or CNVs outside the tested regions. The methodology's sensitivity might not match that of methods designed specifically for smaller or complex regions, and novel or rare variants might be difficult to interpret without correlating with clinical findings.
New York Approved
Methodology
NGS
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