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KCNQ1 Gene Jervell and Lange-Nielsen syndrome type 1 NGS Genetic Test

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KCNQ1 Gene Jervell and Lange-Nielsen syndrome type 1 NGS Genetic Test

Short Name: JLNS1 NGS Test

Also known as: JLNS1, Jervell and Lange-Nielsen Syndrome Type 1, KCNQ1-related Long QT Syndrome

KCNQ1 Gene Jervell and Lange-Nielsen syndrome type 1 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the KCNQ1 gene for diagnosis of Jervell and Lange-Nielsen Syndrome Type 1, enabling early intervention and family screening.

Test Code
5259
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)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart. No fasting required.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick onto FTA card.

Step 3

Report Delivery

Sample labeled and sent to laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment. No special preparation needed.
2
During the Test:Blood sample collection procedure takes about 10-15 minutes.
3
After the Test:Resume normal activities. Await results in 3-4 weeks.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the KCNQ1 gene for diagnosis of Jervell and Lange-Nielsen Syndrome Type 1, enabling early intervention and family screening.

How to Prepare

  • No fasting required
  • Bring valid ID and doctor's prescription
  • Inform about any medications or recent transfusions

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic diagnosis of JLNS1 is critical for preventing life-threatening cardiac events and managing hearing loss. Genetic counseling is essential for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card stable for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate presence or absence of pathogenic mutations in the KCNQ1 gene. Positive results confirm JLNS1 diagnosis, while negative results may require further testing.
📊

Positive

Pathogenic mutation detected, consistent with JLNS1 diagnosis. Clinical correlation and genetic counseling advised.

📊

Negative

No pathogenic variants detected. Symptoms may be due to other causes; consider additional genetic tests.

📊

Variant of uncertain significance

Genetic variant found but clinical significance unknown. Repeat testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If you experience symptoms like fainting, irregular heartbeat, or hearing loss, or if you have a family history of JLNS1, consult a cardiologist or geneticist immediately.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires correlation with clinical findings
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Recent blood transfusion

Compare With Similar Tests

TestKCNQ1 Gene Jervell and Lange-Nielsen syndrome type 1 NGS Genetic TestLong QT Syndrome PanelHearing Loss Genetic PanelCardiac Arrhythmia PanelWhole Exome Sequencing
ComparisonKCNQ1 Gene Jervell and Lange-Nielsen syndrome type 1 NGS Genetic Test

Frequently Asked Questions

What is Jervell and Lange-Nielsen Syndrome Type 1?
JLNS1 is a rare genetic disorder causing congenital hearing loss and cardiac arrhythmias due to mutations in the KCNQ1 gene.
What causes JLNS1?
JLNS1 is caused by autosomal recessive mutations in the KCNQ1 gene, which affects potassium channels in the heart and inner ear.
What are the symptoms of JLNS1?
Symptoms include profound hearing loss from birth, fainting, irregular heartbeat, and risk of sudden cardiac arrest.
How is JLNS1 diagnosed?
Diagnosis is confirmed through genetic testing, such as the KCNQ1 Gene NGS Test, along with clinical evaluation and ECG.
What is the KCNQ1 Gene NGS Genetic Test?
It is a next-generation sequencing test that detects mutations in the KCNQ1 gene to diagnose JLNS1.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to identify genetic variants in KCNQ1.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India.
What should I do before the test?
Provide clinical history, undergo genetic counseling, and no fasting is required.
What do the test results mean?
Positive results indicate a mutation in KCNQ1, confirming JLNS1. Negative results may require further investigation.
Is genetic counseling necessary?
Yes, genetic counseling is strongly recommended before and after testing to understand implications and management.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

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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✓ 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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