TM4SF2

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TM4SF2 (Transmembrane 4 Superfamily Member 2) Gene Mutation Analysis

Non-Syndromic X-Linked Mental Retardation

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, accounting for over 10% of all cases of mental retardation¹. It is estimated that 2/3 of X-linked mental retardation is non-syndromic (mental retardation without other distinguishing features). Recently, mutations in the transmembrane 4 superfamily member 2 (TM4SF2) gene have been found in non-syndromic X-linked mental retardation patients.^2-4

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

TM4SF2 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. Abidi FE et al. J Med Genet. 2002 Jun;39(6):430-3.
3. Zemni R, et al. Nat Genet. 2000 Feb;24(2):167-70.
4. Maranduba CM et al. Am J Med Genet A. 2004 Feb 1;124(4):413-5.

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