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X-linked mental retardation, NGS

Order Code
17243114
CPT
81404, 81405, 81406
Test Details
Synonyms

Neurodevelopmental Disorders Panel

TAT

21 days

Methodology

Next Generation Sequencing

Remarks

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

Performing Location

Accredited NRL Laboratory

Testing Frequency

Once a week

Test Overview

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

Specimen Type

Peripheral Blood

Volume

5-7 mL whole blood OR DNA ≥ 100 µL

Specimen Container

Lavender-top (EDTA) tube

Patient Preparation

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.

Collection

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

Specimen Stability
Temperature Period
Refrigerated 7 days
Order Code
17243114
CPT
81404, 81405, 81406
Test Details
Synonyms

Neurodevelopmental Disorders Panel

TAT

21 days

Methodology

Next Generation Sequencing

Remarks

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

Performing Location

Accredited NRL Laboratory

Testing Frequency

Once a week

Test Overview

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

Specimen Type

Peripheral Blood

Volume

5-7 mL whole blood OR DNA ≥ 100 µL

Specimen Container

Lavender-top (EDTA) tube

Patient Preparation

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.

Collection

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

Specimen Stability
Temperature Period
Refrigerated 7 days