Bardet-Biedl Syndrome (BBS) Panel

Casandra

Casandra Test Code PG19767Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 10349CPT Code 81479

Bardet-Biedl Syndrome (BBS) Panel

Clinical Use

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

This test utilizes NGS combined with CNV analysis in either Exome or Genome platforms. Options include exome-wide CNV analysis and STAT testing for faster results. Ensure that relevant clinical and family history is provided for interpretative accuracy.

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.

Test Details

New York Approved

Methodology

NGS

Biomarkers

The Bardet-Biedl Syndrome Panel examines 27 genes relevant to the diagnosis of Bardet-Biedl syndrome. This test employs Next-Generation Sequencing (NGS) with CNV analysis to identify single nucleotide variants and copy number variants in the specified genes.

NGS with CNV Analysis