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KCNJ18 Gene Thyrotoxic periodic paralysis type 2 NGS Genetic Test

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KCNJ18 Gene Thyrotoxic periodic paralysis type 2 NGS Genetic Test

Short Name: KCNJ18 Gene TPP Type 2 NGS Test

Also known as: TPP Type 2 Genetic Test, KCNJ18 Mutation Analysis, Thyrotoxic Periodic Paralysis Genetic Test

KCNJ18 Gene Thyrotoxic periodic paralysis type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

The purpose of the KCNJ18 Gene Thyrotoxic Periodic Paralysis Type 2 NGS Genetic Test is to identify mutations in the KCNJ18 gene that cause thyrotoxic periodic paralysis type 2. This test aids in confirming the diagnosis, differentiating it from other periodic paralysis syndromes, and informing targeted treatment strategies to manage thyroid dysfunction and prevent recurrent paralysis episodes.

Test Code
4592
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
NGS Technology
Step 1

Sample Collection

No specific preparation is required. Ensure the patient is hydrated and inform the healthcare provider about any medications or supplements.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture techniques. For FTA card collection, a drop of blood is applied to the card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry. No restrictions on activities post-collection.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No fasting or special preparation is required. Provide a detailed clinical and family history to the healthcare provider.
2
During the Test:A blood sample is collected via venipuncture or using an FTA card. The process is quick and minimally invasive.
3
After the Test:Resume normal activities immediately. Results will be available in 3 to 4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of the KCNJ18 Gene Thyrotoxic Periodic Paralysis Type 2 NGS Genetic Test is to identify mutations in the KCNJ18 gene that cause thyrotoxic periodic paralysis type 2. This test aids in confirming the diagnosis, differentiating it from other periodic paralysis syndromes, and informing targeted treatment strategies to manage thyroid dysfunction and prevent recurrent paralysis episodes.

How to Prepare

  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature
  • Avoid hemolysis during blood draw

Doctor's Notes

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

"This NGS genetic test is essential for confirming the diagnosis of thyrotoxic periodic paralysis type 2, allowing for targeted treatment and management of thyroid dysfunction to prevent recurrent episodes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for several days at 4°C or long-term at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the KCNJ18 Gene NGS Genetic Test indicate the presence or absence of mutations in the KCNJ18 gene. A positive result confirms a genetic predisposition to thyrotoxic periodic paralysis type 2, while a negative result suggests no pathogenic variants were detected, though clinical correlation is essential.
📊

Positive for pathogenic variant

Confirms diagnosis of thyrotoxic periodic paralysis type 2. Recommend thyroid management and genetic counseling.

📊

Negative for pathogenic variant

No mutations detected in KCNJ18 gene. Consider other causes of periodic paralysis and further clinical evaluation.

📊

Variant of uncertain significance (VUS)

Genetic variant identified but clinical significance is unclear. Recommend follow-up testing and genetic counseling.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience sudden muscle weakness, paralysis, or symptoms of hyperthyroidism such as rapid heartbeat, weight loss, or tremors. Also, seek medical advice if you have a family history of periodic paralysis or thyroid disorders.

Limitations

  • ⚠May not detect all possible genetic variants or mutations in the KCNJ18 gene
  • ⚠Requires genetic counseling for proper interpretation of results
  • ⚠Does not replace clinical evaluation and thyroid function tests

Risks & Considerations

  • ●Minimal risks from blood draw, such as slight pain, bruising, or infection at the puncture site
  • ●No significant risks associated with genetic testing itself

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Improper storage of blood or DNA samples
  • ●Use of anticoagulants that may affect DNA quality

Compare With Similar Tests

TestKCNJ18 Gene Thyrotoxic periodic paralysis type 2 NGS Genetic TestThyroid Function Test (TFT)Serum Potassium TestElectromyography (EMG)
ComparisonKCNJ18 Gene Thyrotoxic periodic paralysis type 2 NGS Genetic TestTFT measures thyroid hormone levels but does not identify genetic mutations. It is used to assess thyroid status, while NGS genetic test confirms the genetic cause of TPP.This test checks potassium levels during episodes but is not specific for TPP. Genetic testing provides a definitive diagnosis.EMG evaluates muscle electrical activity and can show changes during paralysis but cannot detect KCNJ18 mutations.

Frequently Asked Questions

What is the KCNJ18 Gene Thyrotoxic Periodic Paralysis Type 2 NGS Genetic Test?
This test uses next-generation sequencing to analyze the KCNJ18 gene for mutations that cause thyrotoxic periodic paralysis type 2, a condition with sudden muscle weakness in hyperthyroid individuals.
Who should consider this genetic test?
Individuals with symptoms of sudden muscle paralysis, a family history of periodic paralysis, or diagnosed hyperthyroidism should consider this test for accurate diagnosis.
What is the cost of the test in India?
The cost of the KCNJ18 Gene NGS Genetic Test at DNA Labs India is INR 20,000, which includes home sample collection across India.
How is the sample collected for this test?
A blood sample is collected via venipuncture, or a drop of blood can be applied to an FTA card. Home collection is available for convenience.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection, delivered via online portal, email, or WhatsApp.
What do the test results indicate?
Results show whether mutations in the KCNJ18 gene are detected. A positive result confirms genetic predisposition to TPP type 2, while a negative result suggests no pathogenic variants.
Can this test diagnose other types of periodic paralysis?
This test specifically targets KCNJ18 gene mutations for TPP type 2. Other genetic tests may be needed for different types of periodic paralysis.
Is genetic counseling recommended after the test?
Yes, genetic counseling is recommended to help interpret results, understand inheritance patterns, and discuss management options.
What are the risks associated with this test?
The test involves minimal risks from blood draw, such as slight pain or bruising. There are no significant risks from the genetic analysis itself.
Is the test covered by insurance in India?
Coverage varies by insurance provider and plan. It is advisable to check with your insurance company for specific coverage details.
How can I book this test at DNA Labs India?
You can book the test online through our website or contact us via phone or WhatsApp for home sample collection across India.
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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