Wiskott-Aldrich Syndrome (WAS): WAS (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of WAS; detect carriers; allow early diagnosis in family members
Special Instructions
Not provided.
Limitations
The method does not reliably detect mosaic variants, large deletions, large duplications, inversions, rearrangements, or deep intronic variants. Challenges include allele dropout, inaccurately determining T/A or microsatellite repeats, and the inability to conclude if two heterozygous variants are on the same or different chromosome copies.
Methodology
NGS (Targeted)
Biomarkers
WAS
Gene
LOINC Codes
- 57759-3 - WAS gene Mut Anl Bld/T
- 57759-3 - WAS gene Mut Anl Bld/T
Result Turnaround Time
28-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
Not provided
Container
Lavender-top (EDTA) tube
Collection Instructions
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled or label not legible; improper anticoagulant
Other tests from different labs that may be relevant