Autism Spectrum Disorder Sequencing Panel


Related Gene(s): AHI1, AP1S2, ARX, All AD, BRAF, CACNA1C, CBL, CDKL5, CDKL5, CNTNAP2, CNTNAP2, DHCR7, FMR1, GPC3, GRI3, HRAS, KRAS, MAP2K1, MAP2K2, MECP2, NF1, NLGN4X, NRAS, NRXN1, NRXN1, NSD1, OPHN1, OTC, PCDH19, PTCHD1, PTEN, PTPN11, RAB39B, RAF1, SHANK2, SHANK3, SHOC2, SLC6A8, SLC9A6, SLC9A6, SOS1, TSC1, TSC2, UBE3A, UPF3B

Autism spectrum disorder (ASD) is a general term for a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. These disorders affect about 0.9% of the population, with an overrepresentation in males. In some cases, autism is part of a more complex genetic syndrome with other characteristics. In other cases, it is an isolated finding. There are several genetic conditions that may have an autism spectrum disorder as part of the clinical phenotype.

Testing is performed by high-throughput, next generation sequencing to examine 30 genes at one time. In addition, several of the genes on the panel are partially or fully subjected to Sanger sequencing due to inadequate sequence coverage during next generation sequencing.


Specimen Requirements

Postnatal

  • For adults
  • Blood: Two 5-10 mL tubes with EDTA (lavender top) or two 5-10 mL tubes with ACD (yellow top) from the patient
  • Additionally, please send two 5-10 mL tubes with EDTA (lavender top) or two 5-10 mL tubes with ACD (yellow top) from both parents

  • For newborns or children
  • Blood: 2 mL in pediatric EDTA tube (lavender top) or 2 mL in pediatric ACD tube (yellow top) from patient
  • Additionally, please send two 5-10 mL tubes with EDTA (lavender top) or two 5-10 mL tubes with ACD (yellow top) from both parents

Ordering Information

Shipping

  • Ship at room temperature

Turnaround Time

  • 6-8 weeks


Resources

General Test Requisition