MBD5 Gene Mental retardation, autosomal dominant type 1 NGS Genetic Test
Short Name: MBD5 Gene NGS Test
Also known as: MRD1, Autosomal Dominant Mental Retardation Type 1, MBD5-Related Neurodevelopmental Disorder
MBD5 Gene Mental retardation, autosomal dominant type 1 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 Results will be available within 3 to 4 weeks after sample receipt.. 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 mutations in the MBD5 gene for confirming a diagnosis of autosomal dominant type 1 mental retardation (MRD1). This test also aids in genetic counseling, recurrence risk assessment, and family planning decisions.
- Test Code
- 4222
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or one drop Blood on FTA Card
- Result Time
- Results will be available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A clinical history of the patient and a genetic counseling session are required to draw a pedigree chart of affected family members.
Laboratory Analysis
A small blood sample will be drawn by a trained phlebotomist, or a drop of blood will be placed on an FTA card. The procedure takes less than 5 minutes.
Report Delivery
You may resume normal activities. The sample should be transported to the lab at ambient temperature.
Timeline: Results will be available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic mutations in the MBD5 gene for confirming a diagnosis of autosomal dominant type 1 mental retardation (MRD1). This test also aids in genetic counseling, recurrence risk assessment, and family planning decisions.
How to Prepare
- Collect blood in an EDTA vacutainer and mix gently.
- If using FTA card, apply one drop of blood to the card and allow to air dry.
- Label the sample with patient name, date, and time of collection.
- Transport at ambient temperature (15-30°C).
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counseling is essential for families affected by MBD5-related intellectual disability. This NGS test confirms the diagnosis and helps assess recurrence risk for family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Incorrectly labeled sample
- Insufficient sample quantity
- Sample leaking in transit
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms clinical diagnosis of autosomal dominant type 1 mental retardation. Genetic counseling and family screening recommended.
Negative (No pathogenic variant detected)
MBD5 mutations are not identified. Consider other genetic causes of intellectual disability.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unclear. Additional family studies may help determine its role.
If you receive a positive or VUS result, or if you have a family history of MBD5-related intellectual disability, please consult a clinical geneticist or obstetrician for personalized guidance.
Limitations
- ⚠This NGS test detects single nucleotide variants and small insertions/deletions in coding regions and splice junctions of the MBD5 gene.
- ⚠Large deletions, duplications, or structural rearrangements may not be identified.
- ⚠Variants of uncertain significance may require further family studies.
- ⚠A negative result does not exclude all possible genetic causes of intellectual disability.
Risks & Considerations
- ●Bruising at the blood draw site
- ●Dizziness or lightheadedness during/after blood draw
- ●Infection at the needle site is rare
Interfering Factors
- ●Improper sample collection or storage
- ●DNA contamination
- ●Prior bone marrow transplant may affect results
- ●Presence of large genomic deletions/duplications may not be detected by standard NGS
Compare With Similar Tests
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| Comparison | MBD5 Gene Mental retardation, autosomal dominant type 1 NGS Genetic Test |
Frequently Asked Questions
What is the MBD5 gene?
What is autosomal dominant type 1 mental retardation?
Who should undergo MBD5 gene testing?
What is the cost of this NGS genetic test in India?
What sample is required for the test?
Is fasting required before the test?
How long will it take to get the report?
Is home sample collection available?
Will I receive raw data files with my report?
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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.
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