Also offered as part of the Non-Syndromic X-Linked Mental Retardation Mutation Analysis Test.

X-linked mental retardation (XLMR) has a prevalence of 2.6 cases per 1,000 in the general population.¹ Recently, mutations in the ARX gene have been found in association with both non-syndromic XLMR ^2,3 and syndromic XLMR such as i) West syndrome (infantile spasms, hypsarrhythmia and mental retardation)⁴ ii) Proud syndrome (mental retardation with agenesis of the corpus callosum, microcephaly, limb contractures, scoliosis, coarse facies, tapered digits, and urogenital abnormalities)⁵; iii) Partington syndrome (mental retardation with dystonic movements, ataxia, and seizures)⁵ ; iv) X-linked lissencephaly with abnormal genitalia (XLAG)⁶ and v) Ohtahara syndrome (early infantile epileptic encephalopathy with suppression-burst pattern⁷.

To open a printable assay summary in a new window, click the link below.

ARX Gene Mutation Analysis Assay Summary
(in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)

Please submit the Test Request Form (TRF) and the Neuropsychiatric Patient Information Form when ordering this test.

References
1. Stevenson RE, Schwartz CE. Cytogenet Genome Res. 2002;99(1-4):265-75.
2. Mandel JL, et al. Eur J Hum Genet. 2004 Sep;12(9):689-93.
3. Partington MW, et al. Clin Genet. 2004 Jul;66(1):39-45.
4. Kato M et al. Neurology. 2003 Jul 22;61(2):267-76.
5. Kato M et al. Hum Mutat. 2004 Feb;23(2):147-59.
6. Uyanik G, et al. Neurology. 2003 Jul 22;61(2):232-5.
7. Kato M et al (2007) Am J Hum Genet. 2007 Aug; 81(2):361-6.

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