MBD1 Gene Autism, MBD1 Related NGS Genetic Test
Short Name: MBD1 NGS Genetic Test
Also known as: MBD1 Gene Mutation Analysis, MBD1 Related Autism NGS Panel, MBD1 Sequencing
MBD1 Gene Autism, MBD1 Related 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 3 to 4 Weeks. 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 mutations in the MBD1 gene that may be associated with autism spectrum disorder and to support genetic counselling and personalised care.
- Test Code
- 3923
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session is recommended to draw a pedigree chart of family members affected with MBD1-related neurological disorders.
Method: Venipuncture / FTA card blood spot / DNA submission
Laboratory Analysis
Blood is collected by simple venipuncture. Alternatively, a single drop of blood may be placed on an FTA card, or an extracted DNA sample may be submitted.
Report Delivery
No special precautions are needed. You may resume normal activities. Results will be shared within 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the MBD1 gene that may be associated with autism spectrum disorder and to support genetic counselling and personalised care.
How to Prepare
- No fasting needed before sample collection
- Complete genetic counselling for pedigree analysis prior to testing
- Blood sample should be collected in an appropriate blood collection tube or on an FTA card
- Extracted DNA samples should be labelled and shipped according to laboratory instructions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for MBD1 should be interpreted in the context of a comprehensive autism evaluation by a clinical geneticist and a neurologist or developmental pediatrician."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood samples
- Insufficient DNA quantity or quality
- Incorrectly labelled or missing patient identifiers
- Sample container leaking or contaminated
Understanding Your Results
Negative
No pathogenic or likely pathogenic variant was detected in the MBD1 gene. This does not rule out autism or a genetic cause.
Positive - Pathogenic/Likely Pathogenic
A disease-associated MBD1 gene variant was detected. Clinical correlation and genetic counselling are required.
Variant of Uncertain Significance (VUS)
A gene variant was found but its significance is unclear. Additional family testing or functional studies may be recommended.
Consult a developmental pediatrician, neurologist, or psychiatrist if autism symptoms are suspected. After the test result, a genetic counselling session is essential to understand recurrence risks and management options.
Limitations
- ⚠NGS may not detect large deletions, duplications, repeat expansions, or methylation abnormalities
- ⚠A negative result does not exclude autism or a genetic cause of autism
- ⚠Variants of uncertain significance may require additional testing or family studies
- ⚠The test is not a standalone diagnostic test for autism
Risks & Considerations
- ●Minimal risk from blood draw such as bruising or bleeding
- ●Potential emotional impact from genetic findings
- ●Uncertainty from variants of unknown significance
Interfering Factors
- ●Poor quality or insufficient quantity of DNA
- ●Sample contamination during collection or processing
- ●Presence of variants of uncertain significance
- ●Other genetic or non-genetic causes of autism not covered by this test
Frequently Asked Questions
What is MBD1 gene autism?
How is MBD1 related to autism?
What is the NGS genetic test for MBD1?
Who should undergo this test?
What sample is required for this test?
Is fasting required before the test?
How long does the test report take?
What is the cost of the MBD1 gene autism NGS test in India?
Does DNA Labs India provide raw data files with the report?
What does a positive MBD1 result mean?
What does a negative MBD1 result mean?
Is genetic counselling required before the test?
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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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