Waardenburg Syndrome Panel
Use
A next‐generation sequencing panel designed to identify pathogenic variants in genes associated with Waardenburg syndrome, a genetically and clinically heterogeneous disorder characterized by sensorineural hearing loss and pigmentation anomalies. This disorder includes multiple subtypes (types I–IV), with clinical features ranging from iris hypopigmentation and white forelock to dystopia canthorum and Hirschsprung disease (especially WS types I-IV) as described in the test overview.
Special Instructions
Sample types accepted include blood in an EDTA tube (minimum 1 ml), extracted DNA in TE buffer (minimum 2 µg), and saliva via an approved kit. FFPE DNA is not accepted. For suspected mitochondrial involvement where blood or saliva may be insufficient, skeletal muscle tissue may be recommended to detect mtDNA variants. The lab is CAP-accredited and CLIA-certified.
Limitations
The test may not detect complex inversions, gene conversions, balanced translocations, repeat expansions, non‑coding variants beyond ±20 bp from exon–intron boundaries (unless specified), low-level nuclear gene mosaicism (<14.6 % minor allele fraction), indels larger than ~50 bp, small deletions or duplications, or variants in pseudogene regions or duplicated segments. Some mtDNA variants may not be detectable in blood or saliva; post‑mitotic tissue may be required.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
min. 1 ml
Minimum Volume
Not provided
Container
EDTA tube