Autism / Intellectual Disability / Multiple Anomalies Panel

Panel description

Individuals with autism spectrum disorder, developmental delays, intellectual disabilities, and/or congenital birth defects may have an identifiable underlying genetic cause. This panel is designed to interrogate 117 genes of interest for both sequence-based mutations and small-scale deletions or duplications.

GENES INCLUDED: AP1S2, ARID1A, ARID1B, ARL6, ARX, ASPM, ATRX, AVPR1A, BBIP1 (BBS18), BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, BDNF, BRAF, CACNA1C, CASK, CBL, CDH8, CDKL5, CEP290 (BBS14), CHD7, CNTNAP2, CREBBP, DCX, DHCR7, DMD, EHMT1, ERCC6, ERCC8, EZH2, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, GLI3, GPC3, HDAC8, HOXA1, HPRT1, HRAS, KDM5C, KMT2D (MLL2), KRAS, LICAM, LZTFL1 (BBS17), MAP2K1, MAP2K2, MBD5, MECP2, MED12, MEF2C, MET, MID1, MKKS, MKS1 (BBS13), NF1, NFIX, NHS, NIPBL, NLGN3, NLGN4X, NRAS, NRXN1, NSD1, OPHN1, PAFAH1B1 (LIS1), PCDH19, PHF6, PNKP, PQBP1, PTCH1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAF1, RAI1, RELN, RPGRIP1L, RPS6KA3, SCN1A, SDCCAG8 (BBS16), SHANK2, SHANK3, SHOC2, SHROOM4, SLC2A1, SLC6A4, SLC6A8, SLC9A6, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOS1, SPRED1, TCF4, TRAPPC9, TRIM32 (BBS11), TSC1, TSC2, TTC8 (BBS8), TUBA1A, UBE3A, VPS13B, WDPCP (BBS15), ZEB2

INDICATIONS FOR TESTING:

Panel overlap

This panel covers all genes included in other panels offered by our laboratory, as well as additional genes of clinical significance.


Recommended testing strategy

Tests below can be ordered individually, however our laboratory’s recommended Comprehensive Testing for autism, intellectual disability, and multiple anomalies includes the following three tests:

IF INDICATED, add Methylation 15 studies:
For patients with suspected Angelman or Prader-Willi syndromes, Methylation Analysis of chromosome 15 will identify abnormalities in patients who have methylation errors that cannot be detected by SNP Microarray Analysis.


  1. Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies. Am J Hum Gen 2010.