Walker-Warburg Syndrome
Use
The Walker-Warburg syndrome test offers molecular detection of one pathogenic variant in the FKTN gene, F390fs (c.1167dupA), which accounts for greater than 99% of Ashkenazi‑Jewish Walker‑Warburg syndrome pathogenic variants. Walker‑Warburg syndrome is an autosomal recessive multi‑system disorder which affects the development of the brain, muscles, and eyes. Clinical features include significant intellectual disability, increasing hypotonia, visual impairment, and early death.
Special Instructions
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Limitations
Not provided.
Methodology
Not provided.
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
4 mL
Container
EDTA (lavender‑top) or ACD (yellow‑top) tube
Other tests from different labs that may be relevant