Autism Spectrum Disorder Sequencing Panel

Test Description:

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, whereas 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 a large number of 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. Please download the information sheet for details about the genes and disorders targeted by this panel.

Specimen Requirements:

Two 5-10 mL tubes of anticoagulated blooed in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top) from the patient and both of his/her parents required.

Shipping: Send at room temperature

Turnaround Time: 6-8 weeks

CPT Codes: 83891x1, 83892x1, 83898x20, 83896x20, 83904x20

Consent Form: Postnatal Consent form [PDF]

Requisition Form: General Test Requisition [PDF]

Additional Information: Autism Sequencing Panel Information Sheet [PDF]