DYNC1H1 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test
Short Name: DYNC1H1 MRD13 NGS Test
Also known as: DYNC1H1 Gene Test, MRD13 Genetic Testing, DYNC1H1 Next-Generation Sequencing
DYNC1H1 Gene Mental retardation, autosomal dominant type 13 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 are delivered within 3 to 4 weeks from 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
The purpose of this test is to detect pathogenic variants in the DYNC1H1 gene associated with Mental Retardation, Autosomal Dominant Type 13 (MRD13). It is intended to confirm clinical diagnosis, provide accurate genetic counseling, guide management and reproductive planning, and differentiate from other genetic causes of intellectual disability.
- Test Code
- 4228
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are delivered within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. Please provide a comprehensive clinical history, prior genetic testing reports if any, and a referral letter from your physician. A genetic counseling session will be arranged prior to sample collection to draw a pedigree chart.
Method: Venipuncture, FTA card spot, or extracted DNA submission
Laboratory Analysis
Blood sample (2-3 ml) will be collected in an EDTA vacutainer. Alternatively, dried blood spots on FTA cards are accepted for families preferring home collection. For extracted DNA, a minimum of 1 μg of high-quality DNA is required.
Report Delivery
No specific precautions. The sample will be transported to the laboratory at ambient temperature. Results are typically available in 3-4 weeks.
Timeline: Results are delivered within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the DYNC1H1 gene associated with Mental Retardation, Autosomal Dominant Type 13 (MRD13). It is intended to confirm clinical diagnosis, provide accurate genetic counseling, guide management and reproductive planning, and differentiate from other genetic causes of intellectual disability.
How to Prepare
- Collect blood in an EDTA tube
- Label the sample with patient details
- If using FTA card, allow the spot to air dry before packing
- Ship at room temperature in the provided kit
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early identification of genetic causes of intellectual disability is essential for management and family planning. This test helps confirm DYNC1H1-related MRD13 and may guide recurrence risk counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood samples
- Improperly labeled samples
- Clotted blood in EDTA tube
- Insufficient quantity of DNA (less than 1 μg)
Understanding Your Results
Positive (pathogenic variant detected)
Confirms clinical diagnosis of MRD13 and allows informed family planning.
Negative (no variant detected)
No causative DYNC1H1 variant was found; alternative genetic etiologies should be considered.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unclear. Additional family studies may be helpful.
If the test is positive for a pathogenic DYNC1H1 variant, it is essential to consult a clinical geneticist or neurologist for detailed management and family counseling. For negative or VUS results, consult your physician to explore other testing options.
Limitations
- ⚠NGS may not detect deep intronic variants, large deletions/duplications, or repeat expansions
- ⚠Variant of uncertain significance may be reported, requiring further family studies
- ⚠Test is not intended to diagnose all causes of intellectual disability
- ⚠Genetic counseling is recommended for appropriate interpretation
Risks & Considerations
- ●Low risk of bruising or infection at the blood draw site
- ●Psychological impact from positive result
- ●Possible incidental findings
Interfering Factors
- ●Low DNA quality due to improper sample collection
- ●Contamination during handling
- ●Maternal cell contamination in blood sample
- ●Failed PCR amplification due to poor DNA extraction
Compare With Similar Tests
| Test | DYNC1H1 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test | Chromosomal Microarray Analysis | Whole Exome Sequencing | Fragile X Syndrome Genetic Test |
|---|---|---|---|---|
| Comparison | DYNC1H1 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test |
Frequently Asked Questions
What is Mental Retardation Autosomal Dominant Type 13?
How is this test performed?
What does a positive result mean?
Do I need to fast for this test?
What is the cost of the test?
How long does it take to get the report?
Is home sample collection available?
What kind of sample is needed?
Can this test be done during pregnancy?
Are there any side effects or risks?
Will insurance cover this test?
What should I do if the result is reported as a variant of uncertain significance (VUS)?
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