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.

Sample Type

• Buccal Swab

• Whole Blood (EDTA or Lavender Tube)

Turn Around Time

Approximately 4 weeks (30 Days)

Features

• 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

Shipping

A test kit can be shipped to your home within 1-2 business days

Insurance Billing

1. We require a Physicians Order
2. We will require pre-authorization for Genetic Testing.  We can assist in this process
3. A Medicare Advance Beneficiary Notice Form may be required for Medicare patients

Informed Consent

Informed Consent for Genetic Testing is Required.  See our Forms Page

• contact us via phone or email
• Contact Us Form