Aarskog Syndrome
Aarskog syndrome is due to mutations in the FGD1 gene, a
Rho/Rac guanine exchange factor localized to Xp11.21. Males present with
short stature, hypertelorism, shawl scrotum and joint hyperextensibility.
Carrier females tend to be shorter than non-carriers and usually have
subtle facial features. Males can have mild cognitive impairment.
Sample requirements: FGD1 testing offered in this
laboratory uses DNA as the starting nucleic acid for analysis. This
requires 5 to 10 ml of peripheral blood collected in an EDTA Vacutainer
(lavender top).
Transport: All samples should be shipped at room
temperature and delivered via overnight courier. (FedEx is preferred.) Do
not freeze the specimen prior to transport. It is preferable to ship
samples early in the week for delivery Monday through Friday. Please
contact JoAnne Babb or Mike Friez
(1-800-473-9411) in the Molecular Diagnostic Laboratory for details regarding
transport.
Analysis standards: Testing will be completed
within 6 weeks of sample receipt. The referring party will be contacted
should delays arise. Technical staff members assess the quality and
interpretation of all test results. Following an independent analysis of
results by the Director of the Laboratory, a hard copy report will be
issued. Verbal reports with consultation are available upon request by the
referring party.
Unknown mutation:
- CPT codes:
83890, 83898 (x10), 83904 (x7), 83909 (x7), 83912
Known mutation:
- CPT codes: 83890, 83898, 83904 (x2), 83909, 83912
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