CHD8 Gene Autism Susceptibility, Type 18 NGS Genetic Test
Short Name: CHD8 NGS Test
Also known as: CHD8 Gene Sequencing, CHD8-Related Autism Susceptibility Test, Autism Susceptibility Type 18 NGS Test
CHD8 Gene Autism Susceptibility, Type 18 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered in 3 to 4 weeks from the date the laboratory receives the sample.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To detect pathogenic variants in the CHD8 gene associated with autism susceptibility type 18 and to support the clinical evaluation of autism spectrum disorder, particularly when CHD8-related features are present.
- Test Code
- 3907
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered in 3 to 4 weeks from the date the laboratory receives the sample.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. The patient’s clinical history and a genetic counselling session are recommended before the test.
Method: Venipuncture or dried blood spot on FTA card
Laboratory Analysis
Blood is drawn by a trained phlebotomist, or a dried blood spot is collected on an FTA card. The procedure takes a few minutes.
Report Delivery
The sample is sent to the laboratory in the provided packaging. No specific aftercare is needed for a routine blood collection.
Timeline: Reports are delivered in 3 to 4 weeks from the date the laboratory receives the sample.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic variants in the CHD8 gene associated with autism susceptibility type 18 and to support the clinical evaluation of autism spectrum disorder, particularly when CHD8-related features are present.
How to Prepare
- No fasting is required
- A doctor or genetic counsellor should discuss the reason for testing and obtain informed consent
- For blood samples, use the collection tube provided in the DNA Labs India kit
- For FTA cards, allow the blood spot to dry completely before sealing the pouch
- Label the sample with patient name, date of birth, and collection date
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Because CHD8-related autism can present with diverse features, the decision to perform this test should be made jointly by a clinician and a genetics professional. The test result is one piece of the diagnostic process and not a substitute for a comprehensive developmental assessment."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Improperly labeled or unlabeled sample
- Insufficient sample quantity
- Clotted or hemolyzed blood sample
- Sample collected in an inappropriate container
- Sample stored or shipped at extreme temperatures
Understanding Your Results
No pathogenic or likely pathogenic variant detected
Negative result does not exclude a clinical diagnosis of ASD because other genetic and environmental factors may contribute.
Pathogenic or likely pathogenic variant detected
The individual carries a CHD8 variant that may increase susceptibility to autism spectrum disorder. Genetic counselling and family follow-up are recommended.
Variant of uncertain significance (VUS) identified
A DNA change was found with unclear clinical significance. Additional family studies and clinical correlation may help clarify its role.
If you notice persistent difficulty in social communication, repetitive behaviours, delayed speech, or loss of skills, consult a developmental paediatrician or child psychiatrist. For genetic counselling regarding CHD8 testing, a clinical geneticist or genetic counsellor can guide you.
Limitations
- ⚠NGS may not detect large gene rearrangements, deep intronic variants, repeat expansions, or methylation defects.
- ⚠A negative result does not rule out a clinical diagnosis of autism spectrum disorder because other genetic and environmental factors may be involved.
- ⚠Variants of uncertain significance may be reported and may require additional family studies for clarification.
- ⚠This test is not a complete autism gene panel and does not assess other ASD-associated genes.
Risks & Considerations
- ●No major medical risks are associated with this genetic test.
- ●Blood collection may cause temporary pain, slight bruising, or redness at the needle site.
- ●Serious complications from blood collection are extremely rare.
Interfering Factors
- ●Inadequate DNA quantity
- ●Degraded or fragmented DNA
- ●Sample mix-up or mislabeling
- ●Contamination during sample collection or handling
Compare With Similar Tests
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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