Comprehensive Genetic Insights: Autism and Intellectual Disability Testing

$1,500.00

Uncover the genetic foundations of autism and intellectual disability with our groundbreaking Next-Generation Sequencing (NGS) Genetic Test. This state-of-the-art test represents a significant leap in medical technology, offering a deeper understanding of the genetic factors influencing these complex conditions.

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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 Physician’s 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

FAQs and Answers:

Q: Who can benefit from this genetic testing panel?
A: This panel is ideal for children suspected of having autism or intellectual disabilities, as well as for medical professionals seeking precise diagnostic tools.

Q: How accurate is the genetic testing panel?
A: Our panel uses cutting-edge sequencing technology, providing highly accurate and comprehensive results.

Q: Is the test invasive?
A: No, the test is minimally invasive and designed for ease of use, ensuring comfort for all patients.

Q: How long does it take to get results?
A: Results are typically available within a few weeks, allowing for timely diagnosis and intervention.

Q: Can this test help with treatment planning?
A: Yes, understanding the genetic makeup of autism and intellectual disabilities can greatly assist in creating personalized treatment and management plans.

 

Weight 1 lbs
Dimensions 10 × 6 × 1.25 in

Schedule Appointment

Appointments

Locally in Central Florida:

Go to Patient Portal Page   1. Create Account. 2. Go to New Order and Schedule

Applied InGENuity Diagnostics Laboratory. Located at 7040 Lake Ellenor Dr, Orlando, FL 32809
Applied InGENuity Diagnostics Laboratory. Located at 7040 Lake Ellenor Dr, Orlando, FL 32809

 

NOT LOCAL

  1. Please wait 24 hours for us to place your order
  2. Go to any Quest Patient Service Center

 

 

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