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CACNA1S Gene Hypokalemic periodic paralysis type 1 NGS Genetic Test

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CACNA1S Gene Hypokalemic periodic paralysis type 1 NGS Genetic Test

Short Name: CACNA1S HPP1 NGS

Also known as: CACNA1S Gene Hypokalemic Periodic Paralysis Type 1 Test, CACNA1S NGS Genetic Test, HPP Type 1 DNA Test

CACNA1S Gene Hypokalemic periodic paralysis 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 The final report is delivered within 3–4 weeks after sample submission.. Free home collection in 300+ cities across India.

NGS Genetic TestAll age groups🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To identify pathogenic variants in the CACNA1S gene that cause hypokalemic periodic paralysis type 1. The result helps confirm the diagnosis, informs prognosis, and enables cascade testing of family members.

Test Code
4148
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The final report is delivered within 3–4 weeks after sample submission.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Patients should provide relevant clinical history, current medications and any previous genetic testing results. Genetic counseling is recommended before the test.

Method: Venipuncture / FTA card spot / DNA submission

Step 2

Laboratory Analysis

A blood sample is collected from a vein. If using FTA card, a drop of capillary blood is applied to the card and dried.

Step 3

Report Delivery

The sample is transported to the laboratory. Patients can continue normal daily activities.

Timeline: The final report is delivered within 3–4 weeks after sample submission.

Patient Instructions

1
Before the Test:No special preparation is needed. A genetic counseling session is recommended, and you should bring your clinical history and family pedigree details.
2
During the Test:The sample is collected using a sterile needle. If you prefer, a finger-prick blood spot on the FTA card may be used.
3
After the Test:You can return to normal activities immediately after collection. The laboratory will send the report in 3-4 weeks.

About This Test

Who Should Get This Test

To identify pathogenic variants in the CACNA1S gene that cause hypokalemic periodic paralysis type 1. The result helps confirm the diagnosis, informs prognosis, and enables cascade testing of family members.

How to Prepare

  • No fasting is required.
  • Use an EDTA tube for blood collection or apply one drop of blood to the FTA card.
  • Label the sample immediately with patient name, date and time.
  • Store and transport FTA card at ambient room temperature; refrigerate whole blood sample.
  • Include the patient's clinical history and family pedigree when available.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"A targeted CACNA1S genetic test is most useful when the clinical presentation matches hypokalemic periodic paralysis type 1. The result must be interpreted in the context of serum potassium levels, trigger factors, family history and neurological examination findings."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot Applicable
ContainerEDTA vacutainer / FTA card / DNA storage tube
Collection MethodVenipuncture / FTA card spot / DNA submission

Sample Stability

Whole blood in EDTA: 48–72 hours at 2–8°C
FTA card: stable for weeks at room temperature
Extracted DNA: stable at −20°C for long-term storage
Sample Rejection Criteria:
  • Clotted blood sample
  • Heparinized blood sample
  • Insufficient sample volume
  • Leaked or improperly labelled specimen
  • Unregistered or incomplete paperwork

Understanding Your Results

Interpretation of the CACNA1S NGS test should only be performed by a qualified clinical geneticist or genetic counselor. The report is intended to support a clinical diagnosis, not to replace independent medical judgement.
📊

No pathogenic variant detected

No molecular evidence of CACNA1S-related hypokalemic periodic paralysis type 1 was found in this sample. Clinical correlation is essential.

📊

Pathogenic variant detected

Confirms the molecular diagnosis of hypokalemic periodic paralysis type 1 in an appropriate clinical context. Predictive testing in at-risk family members is recommended.

📊

Likely pathogenic variant detected

The variant is very likely to be disease-causing. Clinical assessment and family segregation studies are recommended before definitive management.

📊

Variant of uncertain significance detected

The variant cannot yet be classified as benign or pathogenic. Additional familial testing and functional studies may be required.

⚠️ When to Consult a Doctor:

Consult a physician immediately if you experience sudden muscle paralysis, breathing difficulty or cardiac symptoms. For genetic evaluation, see a neurologist or clinical geneticist.

Limitations

  • ⚠This targeted test covers only the CACNA1S gene and does not analyse other genes causing periodic paralysis.
  • ⚠Rare deep intronic variants and large structural rearrangements may not be detected by this NGS test.
  • ⚠A negative result does not completely exclude hypokalemic periodic paralysis type 1 when clinical suspicion remains high.
  • ⚠Results should be interpreted in the context of clinical and biochemical findings by a qualified genetic professional.

Risks & Considerations

  • ●Bruising at the blood draw site
  • ●Local pain or swelling
  • ●Dizziness or fainting during venipuncture
  • ●FTA card sample collection has negligible risk

Interfering Factors

  • ●Sample contamination
  • ●Poor DNA quality or insufficient quantity
  • ●Incomplete sequence coverage in complex genomic regions
  • ●Variant of uncertain significance
  • ●Mosaicism or low-level genetic variants

Frequently Asked Questions

What is Hypokalemic Periodic Paralysis Type 1?
Hypokalemic periodic paralysis type 1 is a rare inherited disorder causing episodes of muscle weakness or paralysis accompanied by low blood potassium. It is associated with pathogenic variants in the CACNA1S gene.
How does the CACNA1S gene cause HPP?
The CACNA1S gene encodes the alpha-1S subunit of the skeletal muscle L-type calcium channel. Pathogenic variants alter channel function and affect muscle excitation-contraction coupling, leading to susceptibility to episodic weakness during hypokalemia.
Who should undergo this CACNA1S NGS genetic test?
Individuals with clinical features of hypokalemic periodic paralysis, a family history of HPP, or unexplained episodic weakness with low potassium may be candidates. A neurologist or clinical geneticist should evaluate and order the test.
What is the cost of the test?
The test costs Rs 20,000 at DNA Labs India. Home sample collection is included at no extra charge in eligible cities.
What sample is required for this test?
The sample can be whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before sample collection?
No, fasting is not required for this genetic test.
When will I get the report?
The report is usually available within 3 to 4 weeks after the sample reaches the laboratory.
Can this test detect all types of hypokalemic periodic paralysis?
No. This test specifically analyzes the CACNA1S gene. HPP can also be caused by variants in the SCN4A gene; a comprehensive panel may be needed if other genes must be evaluated.
What does a positive result mean?
A positive result indicates a pathogenic or likely pathogenic variant in CACNA1S, confirming the molecular diagnosis. Genetic counseling and family member testing are recommended.
What does a negative result mean?
A negative result does not completely exclude HPP; other genetic causes, non-genetic causes, or atypical mutations may be present. Clinical correlation and further testing are needed.
Will insurance cover this genetic test?
Insurance coverage varies by policy and provider. PMJAY, CGHS, ECHS, and ESIC may not cover this specific genetic test unless clinically mandated; patients should verify with their insurer.
How should I prepare for genetic counseling?
Bring details of symptoms, age of onset, triggers, family history, and any previous laboratory reports. The genetic counselor will prepare a pedigree to help determine the appropriate testing strategy.
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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