ARX-Related Spectrum of X-Linked Mental Retardation
Mutations in the ARX gene cause nonsyndromic XLMR as
well as West, Partington and Proud syndromes and X-linked hydrocephalus
with ambiguous genitalia (XLAG). The gene is localized to Xp21.1. Two
mutations, a 24bp duplication and a 21bp insertion, in exon 2 of ARX
account for a significant proportion of the alterations within the gene.
Carrier females have no phenotype.
Sample requirements: ARX 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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