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Have questions regarding our genetic test panel for ASD?

Here’s a list of our most frequently asked questions.

Autism Spectrum Disorder Overview

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction and communication and the presence of restricted interests and repetitive behaviors.

ASD has both genetic and environmental origins. Research into the genetic origins of ASD has consistently implicated common and rare inherited genetic variations (heritability). Based on population data from five countries in a recent study (Boxbaum et al.JAMA 2022), genetic variations could be found in approximately 80% of those diagnosed with ASD.

It is estimated that  1 in 44 children are affected with ASD, and boys are four times more likely to be diagnosed than girls.

Signs of Autism are age dependent, however some general things to be aware of include:

  • Avoids or does not keep eye contact
  • Lack of or loss of previously acquired speech, babbling or social skills
  • Difficulty understanding other people’s feelings
  • Persistent repetition of words or phrases (echolalia)
  • Resistance to minor changes in routine or surroundings
  • Repetitive behaviors (flapping, rocking, spinning, etc.)
  • Unusual and intense reactions to sounds, smells, tastes, textures, lights and/or colors

The CDC offers a comprehensive guide of signs and symptoms to be aware of.

Autism can be detected as early as 9 months of age, with most appearing before age three.

It is estimated that at least 10% of individuals with ASD also develop epilepsy, and seen with a higher prevalence in females and in syndromic cases.

Test Information

The American Academy of Pediatrics recommends that all children diagnosed with ASD should receive genetic testing.  Given the clinical overlap of the spectrum of autistic conditions within neurodevelopmental disorders, broad panel testing allows for an efficient evaluation of many potential genes based on a single clinical indication. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested.

The Autism Spectrum Disorders Panel includes 170 genes that are associated with both syndromic and non-syndromic causes of ASD.

Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.

The Autism Spectrum Disorders Panel is recommended if a specific underlying syndrome is not suspected. For patients with a suspected syndrome or disorder, consideration of single gene sequencing is recommended. The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), or X-linked (XL) pattern.

One altered copy of the gene is carried by one affected parent, or the condition may result from a new variant.

Each parent carries the altered copy of the gene, but does not typically show signs of the condition.

Each parent carries the altered copy of the gene, but does not typically show signs of the condition.

The Autism Spectrum Disorders  Panel includes genes that are not fully penetrant, or with variable expressivity therefore an individual may have a gene with a pathogenic variant but not display any of the signs/symptoms of the disorder or may have a variety of clinical findings and/or disease severity.

The Autism Spectrum Disorders Panel offered by Quadrant utilizes next-generation sequencing (NGS) to identify variants within the genes analyzed. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Supplemental and confirmatory technology used to complement this panel may include array CGH, quantitative PCR, and Sanger sequencing. Variant classification and interpretation are performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants.

The Autism Spectrum Disorders Panel analyzes 170 genes.

Single gene/variant testing is available for any of the genes on this panel. Healthcare providers may contact the laboratory at [email protected] for this request.

Fragile X testing is available, and PCR is performed along with capillary electrophoresis for allele sizing. Samples positive for FMR1 CGG repeats in the premutation and full mutation size range have additional analysis via Southern blot to assess the size and methylation status. (These additional studies may require additional blood samples for the conformational Fragile X testing).

Microarray is available for deletion/duplication studies of gene(s) as reflex (add-on), or standalone tests and requires additional samples.

Collection Kit Information

Collection for the Autism Spectrum Disorders Panel is done through a simple, non-invasive oral swab, collected in the convenience of your home. Collection instructions can be found here.

Once you and your doctor have decided a genetic test is right for you or your child, your doctor will order a test kit to be shipped to your home.

The collection kit includes:

  • Saliva collection swab
  • Instructions for collection
  • Label to properly identify the patient sample
  • Biohazard bag
  • Small box to place the swab in for return shipping
  • Biospecimen shipping bag to place the box in, for return shipping
  • Return shipping label

Cost and Insurance

Before proceeding with shipping a test kit, we will review the insurance information you provided and will give you a benefits investigation with financial details that you may be responsible for.

Specific benefit details pertaining to your insurance plan and/or financial responsibility will be provided prior to test kit shipment

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Quadrant Laboratories