Autism/ID Panel

Concurrent analysis of multiple genes associated with autism spectrum disorder and/or intellectual disabilities. 

NY Approved

Test Overview

Clinical Utility

  • 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

Test Details

Genes

ADNP, AHDC1, ANKRD11, ARID1A, ARID1B, ASXL1, ASXL3, ATRX, AUTS2, CACNA1A, CACNA1E, CASK, CDKL5, CHD2, CHD7, CHD8, CLCN4, CREBBP, CSNK2A1, CTCF, CTNNB1, 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 (NEXMIF), KIF1A, KMT2A (MLL), 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

Conditions

  • Autism spectrum disorders
  • Intellectual disability
  • Kabuki syndrome (KS)
  • Rubinstein-Taybi syndrome (RSTS)

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: T395
CPT Codes*: 81404x3, 81405x2, 81406x2, 81407x1, 81408x1, 81175x1, 81185x1, 81302x1, 81321x1, 81479x3
ABN Required: No
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs | Extracted DNA

Resources

Test Documents

Billing

For Providers

Targeted Variant Testing

FAQs