KPTN Gene Mental retardation, autosomal recessive type 41 NGS Genetic Test
Short Name: KPTN Gene MR Type 41 NGS Test
Also known as: KPTN Gene Intellectual Disability Type 41 NGS Test, MRT41 Genetic Test, KPTN Mutation Analysis
KPTN Gene Mental retardation, autosomal recessive type 41 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 available in 3 to 4 weeks from the date of 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 mutations in the KPTN gene associated with autosomal recessive mental retardation type 41, aiding in confirmed diagnosis, carrier detection, and genetic counselling.
- Test Code
- 4264
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available in 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. A genetic counselling session is recommended to draw a pedigree chart of family members affected with KPTN gene mental retardation, autosomal recessive type 41. Please bring any relevant clinical records.
Method: Peripheral blood draw or FTA card
Laboratory Analysis
A simple blood draw or a single drop of blood on an FTA card is collected by a trained phlebotomist.
Report Delivery
No special precautions. You can resume normal activities immediately after sample collection.
Timeline: Reports are typically available in 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the KPTN gene associated with autosomal recessive mental retardation type 41, aiding in confirmed diagnosis, carrier detection, and genetic counselling.
How to Prepare
- This test can be performed on a 5 ml peripheral blood sample in an EDTA tube
- Alternatively, one drop of blood on a provided FTA card is acceptable
- If sending extracted DNA, ensure sufficient quantity and quality for NGS
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a neurologist, I recommend this NGS test for patients with unexplained intellectual disability to confirm a genetic etiology and guide family counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed blood sample
- Mislabeled container or form
- Insufficient sample quantity
Understanding Your Results
Consult a neurologist or geneticist if you receive a positive result, or if symptoms persist despite a negative result.
Limitations
- ⚠NGS may not detect large deletions, duplications, or trinucleotide repeat expansions
- ⚠Variants in regulatory regions outside the coding region may be missed
- ⚠Results should be interpreted in the context of clinical findings and family history
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●No significant adverse risks associated with the test itself
Interfering Factors
- ●Poor DNA quality or quantity
- ●Sample contamination
- ●Undetected large gene rearrangements not covered by standard NGS
Compare With Similar Tests
| Test | KPTN Gene Mental retardation, autosomal recessive type 41 NGS Genetic Test | KPTN Gene NGS Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | KPTN Gene Mental retardation, autosomal recessive type 41 NGS Genetic Test | Targeted analysis of the KPTN gene specifically for autosomal recessive mental retardation type 41. | Broader analysis of all coding regions; may detect KPTN mutations but with higher cost and longer turnaround. | Detects large chromosomal imbalances and copy number changes, but not small sequence variants in KPTN. |
Frequently Asked Questions
What is KPTN gene mental retardation, autosomal recessive type 41?
What does the KPTN gene NGS genetic test detect?
Who should consider taking this test?
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What type of sample is required?
Do I need to fast before the test?
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Is this test covered by insurance?
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