ARX, DLG3, FACL4, FTSJ1, JARID1C, PQBP1, TM4SF2, and ZNF41 genes, Full Mutation Analysis

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, multiple genes have been indicated in non-syndromic XLMR. We have selected eight genes with strong evidence and high mutation rates to form a non-syndromic XLMR test. This test includes ARX (aristaless related homeobox)^2-5, DLG3 (discs, large homolog 3)⁶, FACL4 (fatty acid CoA ligase 4)⁷, FTSJ1 (FtsJ homolog 1)⁸, JARID1C (Jumonji/ARID domain-containing protein 1C)⁹, PQBP1 (polyglutamine binding protein 1)¹⁰, TM4SF2 (transmembrane 4 superfamily member 2)¹¹ and ZNF41(Zinc finger protein 41)¹². Based on recent literature, the estimated detection rate of this XLMR test is 20-25% of non-syndromic XLMR patients.

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

Non-Syndromic X-Linked Mental Retardation 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
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