Have questions regarding our genetic test panel for ASD?
Here’s a list of our most frequently asked questions.
Autism Spectrum Disorder Overview
What is Autism Spectrum Disorder?
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.
What signs of autism should I look for in my child?
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.
At what age do symptoms first appear for autism?
Autism can be detected as early as 9 months of age, with most appearing before age three.
Are there additional health challenges that may arise with an autism diagnosis?
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
Should I have my child tested for genetic causes of autism?
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.
Why are Autism Spectrum Disorder Panel tests recommended?
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.
Should my child get an Autism Spectrum Disorders Panel test?
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.
Do we need to test all 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.
Do you offer additional genetic tests for ASD?
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
What comes in the collection kit?
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