Syndromic Autism Sequencing Panel

Test Information

This panel of 83 genes is intended for patients with a diagnosis of Autism and is performed by next generation sequencing (NGS).

Turnaround Time

8-10 weeks

CPT Code(s)





  • ADNP
  • ALDH5A1
  • AMT
  • AP1S2
  • ARID1B
  • ARX
  • ATRX
  • BRAF
  • CASK
  • CDKL5
  • CHD7
  • CHD8
  • CTNNB1
  • DHCR7
  • DYRK1A
  • EHMT1
  • FGD1
  • FMR1
  • FOLR1
  • FOXG1
  • FOXP1
  • FOXP2
  • GABRB3
  • SLC2A1
  • GRIN2B
  • HDAC8
  • HOXA1
  • HPRT1
  • KDM5C
  • L1CAM
  • LAMC3
  • MBD5
  • MECP2
  • MED12
  • MEF2C
  • MID1
  • NHS
  • NLGN3
  • NLGN4X
  • NRXN1
  • NSD1
  • NTNG1
  • OPHN1
  • PAFAH1B1
  • PCDH19
  • PHF6
  • PNKP
  • PQBP1
  • PTCHD1
  • PTEN
  • PTPN11
  • RAB39B
  • RAD21
  • RAI1
  • RELN
  • SCN1A
  • SCN2A
  • SETBP1
  • SETD2
  • SHANK3
  • SLC9A6
  • SMC1A
  • SMC3
  • STXBP1
  • SYNE1
  • TBL1XR1
  • TBR1
  • TCF4
  • TMEM231
  • TSC1
  • TSC2
  • TUBA1A
  • UBE3A
  • UBE3C
  • VPS13B
  • ZEB2

Clinical Information

Autism encompasses a broad spectrum of clinically similar neurobehavioral phenotypes that are collectively known as autism spectrum disorders (ASDs). Most progress in identifying single gene causes of autism have come from studies of recognized genetic disorders. This diagnostic test includes 83 genes that represent the most common genetic syndromes that involve autism as a significant clinical feature.


The panel provides a cost-effective option for patients with syndromal autism and normal cytogenetic/array-based testing. Given the content of the panel it also serves as a useful 2nd tier test for patients with a phenotype that resembles Rett or Angelman syndrome.


Next Generation Sequencing

Specimen Requirements

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube - at least 2-3ml for pediatric patients and 5-6ml for adult patients. Extracted DNA and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Ami...

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