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The page below is a sample from the LabCE course Autism Spectrum Disorders: Genetic Testing. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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Conclusions on Genetic Testing for ASD (continued)

  • Several diagnostic companies have genetic tests available to help in identifying autism, ASD, and other developmental delay disabilities. Lineagen's FirstStepDx PLUS® test for ASD and other developmental disorders of childhood is a chromosomal microarray (CMA) genetic test intended to detect ASD earlier and with more efficiency. The FirstStepDx PLUS® test provides high-resolution, whole-genome CMA to identify genetic variations (eg, duplication or deletion syndromes) that may contribute to ASD and other childhood developmental disorders. The test is employed as part of an integrated service that combines proprietary genetic testing, reporting, and genetic counseling.
  • The ARISk® Autism Assessment Test is designed to help physicians and parents identify children who are at increased risk of ASD to allow for earlier diagnosis and intervention options. The ARISk® Test measures a large number of single nucleotide polymorphisms (SNPs) which serve as genetic markers to help determine an individual child’s risk of having ASD. A SNP is a variation in a single base pair in a DNA sequence. The test is performed on a buccal swab collection and measures several biomarkers used to calculate a risk index for the development of ASD.
  • The GeneDx Autism/ID Xpanded Panel uses a trio approach which analyzes not only the affected patient, but both parents. This approach is intended to increase the likelihood of identifying a definite genetic explanation for ASD or other intellectual disabilities (ID). The test is performed on whole blood and uses whole exome capture, next generation sequencing (NGS), and targeted analysis of a comprehensive list of genes currently associated with ASD and/or ID.
  • Several professional societies and major medical insurers have published recommended practice guidelines that support the use of CMA in the initial postnatal evaluation of individuals with multiple congenital anomalies, developmental delay/ID, or autism spectrum ASD. Several of these guidelines consider CMA testing as reasonable and medically necessary for diagnosing a genetic abnormality in children with DD/ID or ASD according to certain diagnostic and statistical criteria.