ACCURATE TEST. FAST RESULTS.

We perform medical diagnostic tests and efficiently provide accurate results that help your physician screen for, diagnose, and manage the treatment of health problems.

LABORATORY TEST DIRECTORY

SEARCH

X-Linked Intellectual Disability Panel, Sequencing, 76 Genes

CPT Code(s): 81470
Specimen Required: Patient Preparation:
Collect:Lavender (EDTA) or yellow (ACD Solution A or B).
Specimen Preparation:Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature:Refrigerated.
Stability:Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Aliases:
  • 0051378 Rett Syndrome (MECP2), Full Gene Sequencing0051752 FG Syndrome FGS1 (MED12) R961W Mutation 2004901 Ornithine Transcarbamylase (OTC) Sequencing 2004931 CDKL5-Related Disorders (CDKL5) Sequencing 2005898 Protocadherin 19 (PCDH19) Sequencing 2006228 Dyskeratosis Congenita, X-linked (DKC1) Sequencing 2007872 ATP7A-Related Copper Transport Disorders (ATP7A) Sequencing 2008615 Creatine Transporter Deficiency (SLC6A8) Sequencing 2009033 Fragile X (FMR1) with Reflex to Methylation Analysis ABCD1, ACSL4/FACL4, AFF2/FRAXE, AP1S2, ARHGEF9, ARX, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CUL4B DCX, DKC1, DLG3, DMD, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HCFC1, HPRT1, HSD17B10HUWE1, IDS, IL1RAPL1, IQSEC2, KDM5C, L1CAM, LAMP2, MBTPS2, MECP2, MED12, MID1, NDP, NDUFA1, NHSNLGN4X, NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1PRPS1, PTCHD1, RAB39B, RPS6KA3/RSK2, SLC16A2/MCT8, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SYN1, SYPTIMM8A, TSPAN7, UBE2A, UPF3B, ZDHHC9, ZNF711
    		•