- Autism spectrum disorder (ASD) is a general term that describes a group of clinically heterogeneous disorders characterized by lack of verbal communication, reciprocal social interaction or responsiveness, and restricted, routine patterns of behavior and interests. Currently, three subgroups, autistic disorder, Asperger syndrome, and pervasive developmental disorder-not otherwise specified (PDD-NOS), are recognized. The Center for Disease Control and Prevention has estimated that about 1 in 68 children has been identified with ASD (1). The age of onset is prior to age 3 with a variable clinical presentation, ranging in severity both amongst individuals as well as amongst the various subtypes of ASDs. Additional clinical features may also be observed in individuals with an ASD, such as intellectual disability (up to ~50%) and seizures (~25%). Currently, identified genetic causes of autism can be classified as the cytogenetically visible chromosomal abnormalities (~5%), copy number variants (CNVs) (i.e., submicroscopic deletions and duplications) (10–20%), and single-gene disorders (~5%) (2).
- Genes (126): ADSL, AFF2, ANKRD11, AP1S2, ARX, ASTN2, ATRX, AUTS2, AVPR1A, BDNF, BRAF, CACNA1C, CACNA1H, CADM1, CASK, CDKL5, CHD7, CHD8, CNTN4, CNTNAP2, CNTNAP5, CREBBP, CXCR3, DHCR7, DIAPH3, DLGAP2, DMD, DOCK4, DPP10, DPP6, EHMT1, EN2, FABP7, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FRMPD4, GABRB3, GABRG1, GNA14, GRIN2A, GRIN2B, GRPR, HNRNPH2, HOXA1, HPRT1, IMMP2L, KATNAL2, KCTD13, KDM5C, KIRREL3, KLHL3, L1CAM, LAMC3, LDLRAD4, MAGEL2, MBD1, MBD3, MBD4, MBD5, MECP2, MED12, MEF2C, MET, MID1, NEGR1, NHS, NIPBL, NLGN1, NLGN3, NLGN4X, NR1I3, NRXN1, NRXN2, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PCDH9, PDE10A, PHF6, PIP5K1B, PNKP, PON3, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RBFOX1, RELN, RIMS3, RPL10, SATB2, SCN1A, SCN2A, SHANK2, SHANK3, SLC6A4, SLC9A6, SLC9A9, SMC1A, SMG6, SNRPN, SOX5, SPAST, ST7, STK3, SYN1, SYNGAP1, TCF4, TSC1, TSC2, TSPAN7, UBE2A, UBE3A, VPS13B, ZEB2, ZNF507, ZNF804A, and ZNHIT6
Test Code: 5025
• Molecular confirmation of a clinical diagnosis in symptomatic patients.
• Assessment for at-risk family members
Test Info Sheet: Autism Panel
Requisition: Contact ApolloGen Diagnostic Laboratory
- Turn-Around Time: 4 Weeks
Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
Other Specimens: See details here
- CPT Codes: 81302×1, 81321×1, 81401×1, 81404×2, 81405×7, 81406×12, 81407×5, 81408×2, 81479×95
Pricing: Please contact us at (949) 916-8886 or firstname.lastname@example.org
- Methodology: Next-Generation Sequencing (NGS)
X-Linked Intellectual Disability Panel