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.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
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