ASD is the fastest growing serious developmental disability in the United States, affecting 1 in 68 children.
Autism spectrum disorder (ASD) is a developmental disorder usually appearing in children under the age of three. This disorder causes social, communication (verbal and nonverbal), and behavioral problems with the severity ranging between individuals.
In many cases the cause is unknown, and no single-etiology had been identified. However, there are some known genetic factors that seem to play an important role in the cause. ASD is thought to be influenced by genetic and environmental factors.
GDI’s Autism Sequencing Panel uses expert-defined content and proven next-generation sequencing technology to efficiently and cost-effectively assist in the evaluation of characteristics associated with Autism Spectrum Disorders.
Included in GDI’s Autism Sequencing Panel are genes reported in the Online Mendelian Inheritance in Man (OMIM) database on autism; genes with recurrent mutations suspected in development delays; genes with reported mutations as found in case studies involving developmental delay characteristics; genes from other publicly available ASD panels; and genes from summaries of ASD-relevant genes.
Autism Susceptibility Genes: SHANK2, ZNF804A, SLC9A9, ST7, GRPR, RPL10
Intellectual Disability Genes : DHCR7, KIRREL3, MBD5, SATB2, MEF2C, ATRX, KDM5C, OPHN1, PCDH19, PHF6, PQBP1, RAB39B, ARX, CDKL5, PTCHD1
Developmental Issue Genes: SOX5, CHD8, ANKRD11, CREBBP, PAFAH1B1, FOXP1, FOXP2, NSD1, AUTS2, HOXA1, VPS13B, EHMT1, CASK, FGD1, L1CAM, NHS, RAI1
Cellular Control Process Genes: SPAST, TSC1, TSC2, NIPBL, PON3, GABRG1, KLHL3, PDE10A, DLGAP2, GNA14, DPP6, CACNA1C, KCTD13, C18orf1, KATNAL2, SLC9A6, SMC1A, PNKP, UBE3A, MID1, ZNF507, SHANK3, AP1S2, AVPR1A, FOLR1, GABRB3, GRIN2B, IMMP2L, CNTNAP2, CNTNAP5, LAMC3, MECP2, NLGN3, NRXN1, PCDH9, PTEN, BDNF, RELN, SCN1A, SCN2A, SLC6A4, SMG6, STK3
Transcriptional Process Genes: FOXG1, TCF4, SNRPN, FMR1, NEGR1, NTNG1, ZNHIT6, PIP5K1B
Other genes included: BRAF, DOCK4, MET, PTPN11, CHD7, DMD, DPP10, HPRT1, MED12, RBFOX1, ZEB2
Cumulative target region size 328kb
Number of target genes 101
Number of target exons 1,728
Probe size 80-mer
Number of probes >4,500
Recommended mean coverage 100x
Target minimum coverage 20x
Percent exons covered based
on coverage metrics ≥95%
Comprehensive: Targets 101 genes implicated in ASDs
Reliable: This assay exhibits excellent clinical sensitivity and specificity and high reproducibility
Cost Effective: One test simultaneously tests 101 genes Fast: Results in 2 weeks or less
Rule Out Other Causes: Reduce Testing
Improve health outcome and reduce cost : In the United States, an estimated 11.5 billion per year is the total economic burden economical burden of ASD
|Description||Chromosomal Microarray & Autism Sequencing Panel|
|Method||Bead Chip Array & Targeted Next Generation Sequencing|
|CPT Code||Microarray: 81229, NGS: 81243, 81302, 81321, 81401, 81404, 81405, 81406, 81407, 81408|
F84.0 Autistic Disorder
F70-F72 Mental retardation
R62.50 Unspecified lack of expected normal physiological development in childhood
R46.4 Slowness and poor responsiveness
Z73.4 Inadequate social skills, not elsewhere classified
F80.2 Mixed receptive-expressive language disorder
F94.1 Reactive attachment disorder of childhood
|Specimen Requirements||3-5 ml Whole Blood in EDTA|
|Turnaround Time||2 weeks|
Pickup/Fedex Service Available Monday – Friday
Ship at room temperature in an insulate container by overnight courier. Do not heat or freeze. Specimens should arrove no later than 36 hours after collection.