KCNJ10 Gene SESAME syndrome NGS Genetic Test
Short Name: KCNJ10 NGS Genetic Test
Also known as: KCNJ10 gene mutation analysis, SESAME syndrome genetic test, Kir4.1 potassium channel genetic test
KCNJ10 Gene SESAME syndrome 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 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the KCNJ10 gene associated with SESAME syndrome, which can help confirm a clinical diagnosis, guide medical management, and provide the basis for genetic counseling and family planning.
- Test Code
- 4501
- 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 fasting is required. A genetic counseling session is recommended to draw a pedigree chart and discuss the purpose, limitations, and implications of the test.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A blood sample is drawn from the arm, or a single drop of blood is collected on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
No special precautions are needed. The sample is sent 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 pathogenic mutations in the KCNJ10 gene associated with SESAME syndrome, which can help confirm a clinical diagnosis, guide medical management, and provide the basis for genetic counseling and family planning.
How to Prepare
- Confirm patient identity using valid ID
- Use EDTA vacuum tube for blood collection
- For FTA card, apply one drop of blood from a finger prick
- Label the sample with patient name, date, and time
- Transport at room temperature to the laboratory
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counseling is strongly recommended before and after testing to understand the implications of results for the patient and family."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing patient information
- Sample received after prolonged delay without appropriate storage
Understanding Your Results
Positive
A pathogenic variant in KCNJ10 gene was detected, confirming the genetic diagnosis of SESAME syndrome.
Negative
No pathogenic variant was found. The clinical suspicion may need evaluation of other genes or conditions.
Variant of Uncertain Significance (VUS)
A genetic variant was found whose impact is unknown. Additional familial segregation studies are recommended.
If the test result is positive, consult a clinical geneticist for management and family screening. If symptoms persist or the result is negative, follow up with your neurologist or referring physician for further evaluation.
Limitations
- ⚠NGS may not reliably detect large deletions, duplications, or repeat expansions
- ⚠Variant interpretation may require additional testing of family members
- ⚠Negative result does not completely exclude the possibility of non-coding or mosaic mutations
- ⚠Results should be interpreted in the context of clinical findings
Risks & Considerations
- ●Mild bruising or discomfort at the blood draw site
- ●Dizziness or fainting during blood collection
- ●Rare risk of infection at the puncture site
Interfering Factors
- ●Poor DNA quality or quantity
- ●Sample contamination during collection or handling
- ●Incorrect sample labeling
- ●Presence of variants of uncertain significance requiring familial analysis
Compare With Similar Tests
| Test | KCNJ10 Gene SESAME syndrome NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | KCNJ10 Gene SESAME syndrome NGS Genetic Test |
Frequently Asked Questions
What is the KCNJ10 gene?
What is SESAME syndrome?
What are the common symptoms of SESAME syndrome?
How is SESAME syndrome diagnosed?
What is NGS genetic testing?
How is the KCNJ10 NGS genetic test performed?
Is fasting necessary before the test?
What is the cost of the KCNJ10 NGS genetic test?
How long does it take to get results?
Why does DNA Labs India provide raw data files like FASTQ and VCF?
Is home sample collection available for this test?
What should I do if my test result is positive?
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