X-linked mental retardation, NGS

Neurodevelopmental Disorders Panel

21 days

Next Generation Sequencing

Genelist (161): ABCD1, ACSL4, AFF2, AGTR2, AIFM1, ALG13, AMMECR1, AP1S2, ARHGEF6, ARHGEF9, ARSL, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BCORL1, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CTDP1, CUL4B, DCX, DDX3X, DKC1, DLG3, DMD, EBP, EIF2S3, ELK1, EMD, FAAH2, FAM50A, FANCB, FGD1, FHL1, FLNA, FMR1, FRMPD4, FTSJ1, GAN, GDI1, GK, GPC3, GPKOW, GRIA3, GRIPAP1, GSPT2, HCCS, HCFC1, HDAC6, HDAC8, HMGB3, HNRNPH2, HPRT1, HSD17B10, HUWE1, HYCC1, IDS, IGBP1, IKBKG, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KIF4A, KLF8, KLHL15, L1CAM, LAMP2, LAS1L, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MID2, MSL3, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NEXMIF, NHS, NKAP, NLGN3, NLGN4X, NONO, NSDHL, NXF5, OCRL, OFD1, OGT, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PIGA, PLP1, POLA1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RBMX, RLIM, RNF113A, RPL10, RPS6KA3, SHROOM4, SLC12A6, SLC16A2, SLC35A2, SLC6A8, SLC9A6, SLC9A7, SMC1A, SMS, SOX3, SRPX2, SSR4, STAG2, STEEP1, SYN1, SYP, TAF1, THOC2, TIMM8A, TmLHE, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, WDR13, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZFP92, ZMYM3, ZNF41, ZNF674, ZNF711, ZNF81

Accredited NRL Laboratory

Once a week

Diagnose genetic causes of X-linked intellectual disability; precise diagnosis and genetic counseling.

Peripheral Blood

5-7 mL whole blood OR DNA ≥ 100 µL

Lavender-top (EDTA) tube

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.