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)

81479

Cost

$3,500

Genes

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.

Indications

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.

Methodology

Next Generation Sequencing

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA is also accepted for this test.

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
Kellie Walden, MS, CGC

Molecular Testing, NGS Panel, NGS Panels
Lucy's Story

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...

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