Syndromic Autism NGS Panel

Turnaround Time

8 weeks

CPT Code(s)

81443

Cost

$3,500

Genes

• Aarskog syndrome
• Angelman syndrome
• Borjeson-Forssman-Lehmann syndrome
• CASK related X-linked intellectual disability (CASK)
• CHARGE syndrome
• Cornelia de Lange syndrome
• Noonan syndrome
• Pitt-Hopkins
• Rett syndrome
• Rauch-Steindl syndrome
• Sotos syndrome
• Tuberous sclerosis
• X-Linked Hydrocephalus
• Coffin-Siris syndrome
• Partington syndrome
• Alpha-thalassemia/X-linked impaired intellectual development syndrome
• Timothy Syndrome
• X-linked intellectual disability, Najm type
• Cortical dysplasia-focal epilepsy syndrome
• Rubinstein-Taybi syndrome
• Kleefstra syndrome
• Fragile X syndrome
• Childhood absence epilepsy
• Bosley-Salih-Alorainy syndrome
• Lesch-Nyhan syndrome
• Occipital pachygyria and polymicrogyria
• 2q23.1 microdeletion syndrome
• Nance-Horan syndrome
• Lissencephaly
• Dravet syndrome
• Pierpont syndrome
• Mowat-Wilson syndrome

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

The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. 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.

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.

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.