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.
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.
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.
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.
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
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
- 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.