X-Linked Intellectual Disability Panel, Sequencing, 76 Genes
2010225
Ordering Recommendation
Preferred test for individuals with suspected X-linked intellectual disability (XLID) when genomic microarray testing has not identified causal variant(s).
Mnemonic
XLID SEQ
Methodology
Massive Parallel Sequencing
Performed
Varies
Reported
10-12 weeks  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
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.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
Refer to report.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81302 (MECP2); 81404 x3 (ARX, NDP, NDUFA1); 81405 x10 (ABCD1, DCX, IDS, LAMP2, NLGN4X, OTC, PCDH19, PLP1, PQBP1, SLC16A2); 81406 x4 (CDKL5, FTSJ1, PDHA1, SLC9A6); 81407 x2 (KDM5C, L1CAM); 81408 (DMD); 81479
Components
Component Test Code*Component Chart Name
2010226X-Lnkd Intlct Dsblty Pan, Seq - Spcmn
2010227X-Lnkd Intlct Dsblty Pan, Seq - Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • 0051378 Rett Syndrome (MECP2), Full Gene Sequencing
  • 0051752 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, HSD17B10
  • HUWE1, IDS, IL1RAPL1, IQSEC2, KDM5C, L1CAM, LAMP2, MBTPS2, MECP2, MED12, MID1, NDP, NDUFA1, NHS
  • NLGN4X, NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1
  • PRPS1, PTCHD1, RAB39B, RPS6KA3/RSK2, SLC16A2/MCT8, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SYN1, SYP
  • TIMM8A, TSPAN7, UBE2A, UPF3B, ZDHHC9, ZNF711