DYNC1H1 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test
Short Name: DYNC1H1 NGS Test
Also known as: DYNC1H1 Gene Sequencing, MRD13 Genetic Test, DYNC1H1 Mutation Analysis
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 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 3, 2026
Overview
The purpose of this test is to identify mutations in the DYNC1H1 gene that cause autosomal dominant mental retardation type 13. It is used to confirm a clinical diagnosis, differentiate from other genetic conditions with similar symptoms, and provide information for genetic counseling and family planning.
- Test Code
- 5840
- CPT Code
- 81407
- ICD Code
- F70-F79, Q87.8
- 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 special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using sterile techniques.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the DYNC1H1 gene that cause autosomal dominant mental retardation type 13. It is used to confirm a clinical diagnosis, differentiate from other genetic conditions with similar symptoms, and provide information for genetic counseling and family planning.
How to Prepare
- For blood: Collect 2-3 ml in an EDTA vacutainer.
- For FTA card: Apply one drop of blood onto the designated area and allow to dry.
- Label the sample with patient's name and date of birth.
- Ship the sample at ambient temperature to the laboratory.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of DYNC1H1-related disorders is crucial for appropriate management and family counseling."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant was detected, confirming the diagnosis of autosomal dominant mental retardation type 13.
Negative
No pathogenic variant was detected in the DYNC1H1 gene. Other genetic causes should be considered.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown. Further testing of family members may be needed.
If you or your child have symptoms suggestive of intellectual disability or developmental delay, or if there is a family history of DYNC1H1-related conditions, consult a geneticist or neurologist for evaluation.
Limitations
- ⚠This test detects mutations in the coding regions and splice sites of the DYNC1H1 gene; it may not detect deep intronic variants or large deletions/duplications.
- ⚠Variants of uncertain significance may be reported; further family studies may be required.
- ⚠Negative result does not rule out other genetic causes of intellectual disability.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | DYNC1H1 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Targeted Gene Panel |
|---|---|---|---|---|
| Comparison | DYNC1H1 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test |
Frequently Asked Questions
What is the DYNC1H1 gene?
What is autosomal dominant mental retardation type 13?
How is this test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done on children?
What does a positive result mean?
What if the result is negative?
Are there any risks associated with the test?
Is genetic counseling provided?
In which cities is home sample collection available?
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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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