DYRK1A Gene Mental retardation, autosomal dominant type 7 NGS Genetic Test
Short Name: DYRK1A NGS Genetic Test
Also known as: DYRK1A-Related Intellectual Disability NGS Test, MRD7 Genetic Test, DYRK1A Gene Sequencing Test
DYRK1A Gene Mental retardation, autosomal dominant type 7 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 typically issued within 3 to 4 weeks after the sample reaches the laboratory. There may be slight delays if variant confirmation or additional family testing is required.. 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
This test is performed to identify pathogenic or likely pathogenic variants in the DYRK1A gene associated with autosomal dominant type 7 mental retardation, confirm a clinical diagnosis, and support recurrence risk assessment for families.
- Test Code
- 4250
- CPT Code
- 81479
- ICD Code
- F70.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically issued within 3 to 4 weeks after the sample reaches the laboratory. There may be slight delays if variant confirmation or additional family testing is required.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counseling session to draw a pedigree chart of family members affected with DYRK1A-related intellectual disability is recommended. Please share the patient's complete clinical history and any prior genetic testing reports with the counselor.
Method: Peripheral venipuncture or FTA blood spot
Laboratory Analysis
A trained phlebotomist will collect a small blood sample. If using FTA card, one drop of blood will be placed on the FTA card and allowed to air dry.
Report Delivery
No special precautions are required. You may resume normal daily activities immediately after sample collection.
Timeline: Reports are typically issued within 3 to 4 weeks after the sample reaches the laboratory. There may be slight delays if variant confirmation or additional family testing is required.
Patient Instructions
About This Test
Who Should Get This Test
This test is performed to identify pathogenic or likely pathogenic variants in the DYRK1A gene associated with autosomal dominant type 7 mental retardation, confirm a clinical diagnosis, and support recurrence risk assessment for families.
How to Prepare
- No fasting or special preparation is required.
- For blood sample: EDTA vacutainer is preferred.
- For FTA card: Collect one drop of blood directly onto the FTA card.
- Ensure the sample is clearly labelled with the patient's name and date of birth.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for DYRK1A mutations helps families understand the cause of intellectual disability and provides crucial recurrence risk information for family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Improperly labelled samples
- Uninformative FTA card with insufficient blood
Understanding Your Results
Pathogenic variant detected
Confirms clinical diagnosis of DYRK1A-related MRD7.
Likely pathogenic variant detected
Strongly suggests disease-causing; family segregation testing is recommended.
Variant of uncertain significance (VUS)
Insufficient evidence to classify; additional family testing or functional studies may help.
No pathogenic variant detected
No DYRK1A mutation identified; other genetic causes should be considered.
Consult a genetic counselor or clinical geneticist if you have unexplained intellectual disability, a family history of DYRK1A-related disorders, or if you are planning a family and wish to understand recurrence risks.
Limitations
- ⚠NGS may not detect large deletions, duplications, or deep intronic structural rearrangements.
- ⚠Variant of uncertain significance may require additional family studies or functional analysis.
Risks & Considerations
- ●Mild bruising or soreness at the blood collection site
- ●Rare risk of fainting during blood draw
Interfering Factors
- ●Poor DNA quality or quantity
- ●Sample contamination
- ●Prior allogeneic bone marrow transplantation
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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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