Wiskott-Aldrich syndrome (WAS)
Download a Test Requisition Form
You can download the Test Requisition form (106k) in portable document format (.pdf).
About the Disorder | Indication | Specimen l Testing Methodology l Turnaround Time l Cost l CPT Codes l Shipping l Results l Contact Us
About the Disorder
WAS typically presents during infancy with thrombocytopenia, eczema and recurrent infections. Bleeding episodes tend to decrease with age, but older patients have increasing problems with infections, and may develop autoimmune diseases and malignancies. Diagnostically, patients have thrombocytopenia with decreased platelet size, variable immunodeficiency, absent isohemagglutinins, and poor antibody response to polysaccharide antigens.
WAS is caused by a mutation in the WAS gene, located on the X chromosome at Xp11.22-23. The WAS gene is composed of 12 exons. Pathologic mutations have been described in all 12 exons. X-linked thrombocytopenia and X-linked severe congenital neutropenia are also caused by mutations in the WAS gene.
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Indications
- Confirmation of diagnosis in an at-risk or symptomatic individual
- Carrier identification in females with a family history
- Prenatal diagnosis of an at-risk fetus, after identification of a mutation in a proband (by previous arrangement only).
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Specimen
At least 3cc whole blood in purple top (EDTA) tube. Label tube with patient's name, birth date and date of collection. Buccal swabs are required for analysis in patients who have undergone bone marrow transplantation and may facilitate DNA isolation in patients undergoing chemotherapy or in individuals with leukopenia. Please call for a free buccal swab collection kit.
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Testing Methodology
PCR-based sequencing of the entire coding region and intron/exon boundaries of the Wiskott-Aldrich syndrome (WAS) gene.
Sensitivity
Sequencing detects about 98% of mutations in the WAS gene in males. In females, test sensitivity is somewhat lower as PCR-based sequencing does not detect large deletions, insertions or rearrangements within a gene.
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Turnaround Time
1 month
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Cost
- Full gene sequencing
- Known mutation detection (by prior arrangement only)
Please call 513-636-7909 for current pricing.
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CPT Codes
83890, 83898 (x7), 83891 (x6), 83904 (x19), 83894 (x8), 83912
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Shipping Instructions
Please enclose test requisition with sample. All information must be completed before sample can be processed. The test requisition is available for download as a 63 Kb .pdf file at the top of this page. Place samples in Styrofoam mailer and ship at room temperature by overnight Federal Express to arrive Monday through Friday.
Ship to
Cytogenetics and Molecular Genetics Laboratories
3333 Burnet Avenue NRB 1042
Cincinnati, OH 45229
513-636-4474
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Results
Results will be reported to the referring physician or genetic counselor as specified on the requisition form.
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Contact Us
For additional inquiries, contact us:
Phone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
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