Intellectual disability

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with autism or intellectual disability
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

952
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81302x1, 81321x1, 81404x2, 81405x2, 81406x2, 81407x1, 81408x2, 81175x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. CDC (Centers for Disease Control and Prevention) (2014) Morbidity and Mortality Weekly Report 63(SS02) 1-21; www.cdc.gov/mmwr
  2. Mefford et al., (2012) NEJM 366(8): 733-743 (PMID: 22356326)
  3. Miller et al.., (2010) Am J Hum Genet 86(5): 749-64 (PMID 20466091)
  4. Schaefer et al., (2013) Genet Med 15(5): 399-407 (PMID: 23519317)
  5. Farwell et al. (2015) Genet. Med. 17 (7):578-86 (PMID: 25356970)
  6. Lee et al. (2014) Jama 312 (18):1880-7 (PMID: 25326637)
  7. Posey et al. (2015) Genet. Med. : (PMID: 26633545)
  8. Retterer et al. (2015) Genet. Med. : (PMID: 26633542)
  9. Wright et al. (2015) Lancet 385 (9975):1305-14 (PMID: 25529582)
  10. Lopez-Rangel et al., (2008) Br J Dev Disabil 54: 69-82 (no PMID)
  11. Fitzgerald et al. (2015) Nature 519 (7542):223-8 (PMID: 25533962)
  12. McKnight D, Retterer K, Juusola J, Brandt T, Richard G, and Suchy S, Genetic Testing Strategies for Patients with Epilepsy and Neurodevelopmental Disorders; (Abstract #562). Presented at the 2015 ACMG Annual Clinical Genetics Meeting, March 27, 2015, Salt
  13. Yang et al. (2014) JAMA 312 (18):1870-9 (PMID: 25326635)

Forms and Documents

Test Details

ADNP, AHDC1, ANKRD11, ARID1A, ARID1B, ASXL1, ASXL3, ATRX, AUTS2, CACNA1A, CASK, CDKL5, CHD2, CHD7, CHD8, CLCN4, CNTNAP2, CREBBP, CSNK2A1, CTCF, CTNNB1, CTNND2, DDX3X, DHCR7, DNMT3A, DYNC1H1, DYRK1A, EFTUD2, EHMT1, EP300, FOXG1, FOXP1, GATAD2B, GNAO1, GPC3, GRIA3, GRIN1, GRIN2B, HUWE1, IL1RAPL1, IQSEC2, ITPR1, KAT6A, KAT6B, KCNB1, KDM5C, KDM6A, KIAA2022, KIF1A, KMT2A, KMT2D, MAP2K1, MBD5, MECP2, MED12, MED13L, MEF2C, MTOR, MYT1L, NALCN, NF1, NR2F1, NRXN1, NSD1, OPHN1, PACS1, PLA2G6, POGZ, PPP2R5D, PQBP1, PTCHD1, PTEN, PTPN11, PURA, RAI1, RIT1, RPS6KA3, SATB2, SCN1A, SCN2A, SCN8A, SETBP1, SETD5, SHANK3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMC1A, SOS1, STXBP1, SYNGAP1, TBL1XR1, TCF4, TRIO, TSC1, TSC2, UBE3A, USP9X, WAC, WDR45, ZC4H2, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with autism or intellectual disability
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T395
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81302x1, 81321x1, 81323x1, 81404x2, 81405x2, 81406x2, 81407x1, 81408x2
No
Yes
* For price inquiries please email zebras@genedx.com