X-Linked Intellectual Disability Panel

X-Linked Intellectual Disability Panel

  • X-linked intellectual disability (XLID) is a non-progressive cognitive impairment that affects 1-3% of the Western population (1). Common signs are an IQ of below 70 and limitations in both intellectual functioning and adaptive behavior (2). It is more common in males than in females because many of the XLID-mutations are found on the X chromosome (3). It is estimated that up to 50% of moderate to severe intellectual disability cases have genetic origins and that around 10% are due to X-linked intellectual disability (1). The majority of individuals who have XLID are non-syndromic and have no other features to assist in the diagnosis. Genetic testing plays a crucial role as it can test known genes involved and provides information regarding recurrence risk and family planning.
  • Genes (114): ABCD1, ACSL4, AFF2, AGTR2, AIFM1, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, EBP, EIF2S3, FAAH2, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, GSPT2, HCCS, HCFC1, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RBM10, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, THOC2, TIMM8A, TSPAN7, UBE2A, UPF3B, USP9X, WDR13, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZMYM3, ZNF41, ZNF674, ZNF711, and ZNF81
    Test Code: 5095
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: X-Linked Intellectual Disability Panel
    Requisition: Contact ApolloGen Diagnostic Laboratory
  • Turn-Around Time: 4 Weeks
    Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
    Other Specimens: See details here
  • CPT Codes: 81404×1, 81405×1, 81406×2, 81407×2, 81408×1, 81479×34
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests:
    Intellectual Disabilities Panel
    Autism Panel
  • References:
    1. http://geneticslab.emory.edu/documents/education-materials/disease-category/x-linked-intellectual-disability.pdf
    2. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738825/
    3. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563255/

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