Berries Health- Autism Spectrum Disorders (ASD) Genetic Testing Panel

The Autism Spectrum Disorders (ASD) Panel investigates genetic variations associated with autism spectrum disorders, encompassing 167 genes. ASD encompasses a range of conditions characterized by challenges in social interaction, communication, and behavior, affecting approximately 1 in 88 children. 

Clinical Utility:

The ASD genetic testing panel can provide a clinical diagnosis for unexplained conditions in children while alleviating family stress related to uncertainties. Genetic testing may lead to more personalized treatments, inform families about reproductive risks, and connect them to relevant resources and support options. 

Methodology:

The test identifies inherited genetic variations (germline mutations) associated with ASD. Genes encode instructions in DNA for producing proteins, and different versions of these genes can affect health. The panel examines over 167 genes linked to ASD, including genes with strong evidence of associations and investigational candidates, as well as those involved in syndromic conditions that feature ASD. 

The Berries Health- Autism Spectrum Disorders (ASD) Panel is a Laboratory Developed Test (LDT) validated at BH lab partner using the Twist Exome 2.0 and Illumina NovaSeq6000 NGS platform. This clinical LDT test has not been cleared or approved by the FDA. 

Interpreting Test Results:

• Positive Result: Indicates a pathogenic variant that may explain the patient’s phenotypes. Some ASD cases are associated with de novo mutations, where the parent does not carry the variation. Additionally, some syndromic conditions require both copies of defective genes to manifest, providing significant insight for managing treatment plans.

• Variation of Uncertain Significance (VUS): A report of VUS indicates a genetic change not previously linked to ASD. These results are uncertain and typically do not impact healthcare decisions. Genetic testing of family members may help clarify the relevance of VUS to inherited conditions. Variants initially classified as uncertain may later be reclassified as benign or associated with disease phenotype.

• Negative Result: A negative result indicates that no specific variants linked to ASD were found in the genes tested. This means the patient does not have a genetic variation associated with ASD based on the panel.

Limitations of Testing 

This test is designed to identify germline pathogenic variants, including single nucleotide polymorphisms (SNPs) and small insertions and deletions (indels) of up to 1 kilobase pair (kbp). It also analyzes mutations within coding regions and the exon-intron boundaries, specifically within 50 base pairs. Any deletions or duplications larger than 1 kbp that are reportable will be confirmed using orthogonal methods before being included in the final report.

Berries Health- Autism Spectrum Disorders (ASD) Genetic Testing Panel