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CACNA1S Gene Thyrotoxic periodic paralysis type 1 NGS Genetic Test

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CACNA1S Gene Thyrotoxic periodic paralysis type 1 NGS Genetic Test

Short Name: CACNA1S Genetic Test

Also known as: CACNA1S Gene Mutation Test, Thyrotoxic Periodic Paralysis Genetic Test

CACNA1S Gene Thyrotoxic periodic paralysis type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in Results are typically available within 3-4 weeks after sample receipt.. Free home collection in 300+ cities across India.

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 this test is to identify genetic mutations in the CACNA1S gene that cause thyrotoxic periodic paralysis type 1, enabling accurate diagnosis, informed treatment decisions, and genetic counseling for affected individuals and their families.

Test Code
4588
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
Results are typically available within 3-4 weeks after sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation is required. Ensure proper identification and consent for genetic testing.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture from a vein in the arm.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding and avoid strenuous activity for a short period.

Timeline: Results are typically available within 3-4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the implications of testing, review family history, and obtain informed consent.
2
During the Test:Sample collection involves a simple blood draw; the process is quick and minimally invasive.
3
After the Test:Wait for results within 3-4 weeks; follow up with the referring physician for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify genetic mutations in the CACNA1S gene that cause thyrotoxic periodic paralysis type 1, enabling accurate diagnosis, informed treatment decisions, and genetic counseling for affected individuals and their families.

How to Prepare

  • Verify patient identity and test requisition
  • Use sterile equipment and aseptic technique
  • Label the sample correctly with patient details
  • Transport the sample to the laboratory as per guidelines

Doctor's Notes

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

"This test is essential for diagnosing genetic causes of periodic paralysis, particularly in patients with thyrotoxicosis, to guide appropriate management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood: Store at 2-8°C for up to 24 hours
Extracted DNA: Store at -20°C for long-term stability
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Incorrectly labeled or unlabeled samples

Understanding Your Results

Test results indicate the presence or absence of mutations in the CACNA1S gene associated with thyrotoxic periodic paralysis type 1.
Positive result: Pathogenic mutation detected, supporting diagnosis of thyrotoxic periodic paralysis type 1
Negative result: No pathogenic mutation detected; clinical symptoms may require further investigation
Variant of uncertain significance: Genetic variant found but not conclusively linked to disease; recommend genetic counseling and follow-up
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if symptoms persist, worsen, or if there is a family history of periodic paralysis, for comprehensive evaluation and management.

Limitations

  • ⚠May not detect all possible mutations in the CACNA1S gene
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not rule out other genetic or non-genetic causes of periodic paralysis

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection at puncture site
  • ●Psychological impact of genetic results; genetic counseling recommended

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Compare With Similar Tests

TestCACNA1S Gene Thyrotoxic periodic paralysis type 1 NGS Genetic TestSCN4A Gene TestKCNJ2 Gene Test
ComparisonCACNA1S Gene Thyrotoxic periodic paralysis type 1 NGS Genetic TestTests for mutations in the SCN4A gene, another cause of periodic paralysisIdentifies mutations in KCNJ2 gene linked to Andersen-Tawil syndrome

Frequently Asked Questions

What is the CACNA1S Gene Thyrotoxic Periodic Paralysis Type 1 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to identify mutations in the CACNA1S gene, which causes thyrotoxic periodic paralysis type 1, a rare muscle disorder.
Who should consider this test?
Individuals with symptoms like sudden muscle weakness, tingling, or cramping, especially during stress or after meals, and those with a family history of periodic paralysis.
How is the test performed?
A small blood sample is collected and analyzed in the laboratory using NGS technology to detect genetic mutations in the CACNA1S gene.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, which includes sample collection, transportation, analysis, and report generation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3-4 weeks after the sample is received by the laboratory.
What do the test results mean?
A positive result indicates a mutation in the CACNA1S gene, supporting diagnosis. A negative result means no mutation was detected, but symptoms may need further evaluation.
Are there any risks associated with the test?
The test involves a standard blood draw with minimal risks like bruising. Genetic counseling is recommended to discuss potential psychological impacts.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
Is the test covered by insurance?
Coverage depends on your insurance plan; it is not universally covered. Check with your provider for details.
Can this test diagnose other types of periodic paralysis?
This test specifically targets CACNA1S gene mutations. Other genetic tests may be needed for different types of periodic paralysis.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting mutations, but results should be interpreted in conjunction with clinical symptoms and genetic counseling.
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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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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