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:
- Developmental delay, learning disability, or intellectual disability
- Autism spectrum disorder
- Abnormal growth parameters such as failure to thrive, short stature, and overgrowth
- Macrocephaly and microcephaly
- Birth defects
- Structural brain anomalies, including lissencephaly
- Seizure disorders
- Vision/hearing problems
- Low muscle tone
- Dysmorphic facial features
- Certain dermatologic findings
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:
- High Density SNP Microarray: Between 10% and 20% of individuals with developmental disabilities, autism, or congenital anomalies have copy number changes, microdeletions, or microduplications, detected by microarray analysis. The American College of Medical Genetics recommends microarray as a first tier test for individuals with these indications due to its increased diagnostic yield compared to traditional chromosome analysis1.
- Next Generation Sequencing: Single gene disorders cause developmental disabilities, autism, or congenital anomalies in an additional number of individuals. Next generation sequencing (NGS) analyzes multiple genes at once, making this a cost-effective method of testing genes known to be as associated with these indications.
- Targeted Deletion/Duplication Analysis: If SNP Microarray Analysis and NGS are normal, Deletion/Duplication Analysis is performed to identify partial or whole gene deletions and duplications in the associated genes, another potential cause of developmental disabilities, autism, or congenital anomalies.
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.
- Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies. Am J Hum Gen 2010.