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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 36 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.

  • Several conditions are known to overlap with autism and typically fall into one of four groups: 
    • Medical: epilepsy, gastrointestinal issues or sleep disorders
    • Developmental: intellectual disability or language delay 
    • Mental: attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder or depression; 
    • Genetic: fragile X syndrome and tuberous sclerosis complex.

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 285 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, guide treatment plans, connect families to relevant resources, 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.

Genetic testing does not always find the cause of autism. Many factors play a role in an autism diagnosis that does not include genetics. The Autism Spectrum Disorders Panel offered by Quadrant utilizes next-generation sequencing (NGS) to identify variants within genes that have a known link to autism. 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 285 genes.

Gene panels for specific conditions are the most efficient way to test for variants, however, if a known variant exists within a family's history, 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.

Quadrant Laboratories offers single gene testing.  Healthcare providers can indicate a specific gene on the test requisition form when ordering a genetic test from Quadrant Laboratories.

  • Fragile X testing is available, 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.

  • If a child tests positive for a genetic variant, it would not suggest what parent the genetic variant was inherited from. During the review of the child’s positive results, their healthcare provider may suggest the parents initiate a conversation with their doctor to obtain testing. 
  • A separate test request for each parent along with a benefits investigation form would need to be completed in order to process the test orders.  Your doctor can find these forms on our website. 
  • The exception is X linked disorders.  For example if the patient is a Fragile X positive boy, the condition can only be inherited from his mother, girls can inherit Fragile X from both parents.

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(s)
  • 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

  • The saliva collection kit is specific to the patient it was requested for. If other family members want to get tested, we can work with them to get separate orders and test kits.
  • If interested, please have the parent complete our Benefits Investigation Form so we can help them understand their potential costs and work with their provider to facilitate familial orders.

The saliva collection kit may contain up to 3 swabs, follow the sample collection instructions included in the test kit and repeat the process with each swab.

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.

Costs vary by insurance plan. Specific details about your insurance plan and/or financial responsibility will be provided to you before we ship a test kit.

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