What are Genetic Autism Spectrum and Intellectual Disability Disorders?
Childhood development varies between each child although there are norms for achieving a variety of milestones. Developmental delays characterized by impaired or altered development of social skills, speech, cognitive development as well as communication problems and behavior issues can indicate the possibility of a genetic cause for this altered developmental path. Individuals with altered development often have gene mutations or chromosomal abnormalities that impact brain development and functioning.
Who Should get Genetic ASD | Intellectual Disability Panel Testing?
Our ai-driven genetic ASD|ID panel is used to diagnose individuals and family members with a variety of genetic causes for developmental disability.
- If a child has global developmental delay
- If a child <1 standard deviation from developmental milestones in multiple developmental areas i.e. speech, cognition
- If a child is exhibiting autism spectrum disorder type behavior
- If a child has significant cognitive delay
- If the child has physical abnormalities or additional health conditions in addition to delayed development.
- If there is a family history of Fragile X or other family members with delays in development
- If there are other significant birth defects
NGS including CNV Analysis with > 800 genes covered
We obtain your medical records to better establish the phenotype (the disease manifestations). Unlike other labs that use a limited phenotype, having more robust clinical data is key to our bioinformatic pipeline. We use an ai-driven bioinformatics pipeline.
- We can classify variants based on prioritization and association with phenotypes.
- Variants are investigated across 50 + biomedical data sources including a deep-dive into the medical literature to establish novel disease associations.
- Access to over 750000 individual genetic bio-database allows for better variant to disease association identification.
- ACMG / AMP Variant Implementation Guidelines – The American College of Medical Genetics and Genomics and the Association for Molecular Pathology established criteria to for variant interpretation.
- Context classification of inheritance models
- Variant Frequency, Clinical Significance and Damage effect predictions considered in report analysis.
- In-Silico predictive algorithms to determine the effect of sequence variants.
- Whole Blood (EDTA or Lavender Tube)
Turn Around Time
Approximately 4 weeks (30 Days)
- ai Driven bioinformatics pipeline analysis of variants
- Depth of coverage > 100X
- 8000 disease associated genes
- 99% of clinically relevant variants
- Specificity >99.9% for all reported variants
A test kit can be shipped to your home within 1-2 business days
- We require a Physicians Order
- We will require pre-authorization for Genetic Testing. We can assist in this process
- A Medicare Advance Beneficiary Notice Form may be required for Medicare patients
Informed Consent for Genetic Testing is Required. See our Forms Page