Syndromic Autism Panel
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.
The current design of the panel sequences the coding region of all 83 genes as as well as the flanking intronic boundaries using Next Generation sequencing. All novel and apparently pathogenic changes are reported. Promoter and 3’ untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations, but deletions in males should be readily apparent for X-linked genes only based on lack of amplification and sequence detection. All findings are confirmed with Sanger sequencing.
We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC provides high resolution testing for both X chromosome and whole genome applications. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.
|Specimen Requirements||5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.|
|Transport||The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. 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.|
|Turnaround time||8-10 weeks|
It is recommended (but not required) to submit parental samples along with the proband's sample to expedite any necessary follow-up testing.
If parental samples are submitted in advance, targeted analysis for any variants of unknown clinical significance can be performed prior to issuing the proband's report. Results will be sent once the parental status for each change of interest is confirmed. There is designated space on the requisition for this information.
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.