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CACNA1D Gene Sinoatrial node dysfunction and deafness NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CACNA1D Gene Sinoatrial node dysfunction and deafness NGS Genetic Test

Short Name: CACNA1D Gene Test

Also known as: CACNA1D Mutation Analysis, Sinoatrial Node Dysfunction Genetic Test, CACNA1D Gene Sequencing

CACNA1D Gene Sinoatrial node dysfunction and deafness 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

🩺 Medically Reviewed By

Overview

The purpose of the CACNA1D Gene Test is to identify genetic mutations or variants in the CACNA1D gene that are associated with sinoatrial node dysfunction and deafness. This helps in confirming a genetic diagnosis, guiding treatment decisions such as medication or surgical interventions, informing prognosis, and facilitating genetic counseling for affected individuals and their families.

Test Code
5289
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 genetic counseling is scheduled prior to sample collection to discuss family history and test implications.

Method: Venipuncture or FTA card application

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist. For FTA card collection, a drop of blood is applied to the card. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store the sample as instructed and await report delivery in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss family history and test rationale. No fasting is required.
2
During the Test:A blood sample is collected via venipuncture or FTA card. The procedure takes about 10-15 minutes.
3
After the Test:Resume normal activities. Reports will be available in 3-4 weeks through online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of the CACNA1D Gene Test is to identify genetic mutations or variants in the CACNA1D gene that are associated with sinoatrial node dysfunction and deafness. This helps in confirming a genetic diagnosis, guiding treatment decisions such as medication or surgical interventions, informing prognosis, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Use sterile equipment for blood draw
  • Label samples correctly with patient details
  • For FTA card, ensure blood is fully absorbed and dried
  • Transport samples at room temperature unless specified

Doctor's Notes

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

"This test is crucial for diagnosing genetic causes of heart rhythm disorders and hearing loss, enabling targeted treatment and family counseling."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card application

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information
  • Contaminated samples

Understanding Your Results

Results from the CACNA1D Gene Test indicate the presence or absence of genetic variants. Interpretation should be done by a clinical geneticist or cardiologist in conjunction with clinical findings.
No pathogenic variants: Suggests no genetic cause identified; consider other etiologies.
Pathogenic variant detected: Confirms genetic basis; guides treatment and family screening.
Variant of uncertain significance (VUS): Requires further investigation and genetic counseling.
Likely pathogenic variant: High suspicion of genetic cause; monitor and manage accordingly.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like irregular heartbeat, hearing loss, or have a family history of these conditions. After receiving test results, seek genetic counseling for interpretation and management.

Limitations

  • May not detect all genetic variants, including deep intronic mutations
  • Results require interpretation by a genetic specialist
  • Does not rule out other genetic or non-genetic causes
  • Turnaround time of 3-4 weeks may delay diagnosis

Risks & Considerations

  • Minimal risk from blood draw, such as slight pain or bruising
  • No significant risks associated with the genetic test itself

Interfering Factors

  • Sample contamination during collection or processing
  • Degraded DNA due to improper storage
  • Hemolyzed blood sample
  • Recent blood transfusion may affect results

Compare With Similar Tests

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ComparisonCACNA1D Gene Sinoatrial node dysfunction and deafness NGS Genetic Test

Frequently Asked Questions

What is the CACNA1D gene test?
The CACNA1D gene test is an NGS genetic test that analyzes the CACNA1D gene for mutations associated with sinoatrial node dysfunction and deafness.
Who should consider this test?
Individuals with symptoms of irregular heartbeat, hearing loss, or a family history of these conditions should consider this test.
How is the test performed?
The test involves collecting a blood sample or extracted DNA, which is then analyzed using NGS technology to identify genetic variants.
What is the cost of the test?
The cost is INR 20,000, which includes sample collection, analysis, and a genetic counseling session.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate the presence or absence of pathogenic variants in the CACNA1D gene. Interpretation should be done by a genetic specialist.
Is the test painful?
The test involves a standard blood draw, which may cause minimal discomfort, but it is generally well-tolerated.
Can this test diagnose other conditions?
This test specifically targets CACNA1D gene mutations related to sinoatrial node dysfunction and deafness; it may not diagnose other genetic conditions.
Is genetic counseling included?
Yes, a genetic counseling session is included to help interpret results and draw a family pedigree chart.
What if a variant of uncertain significance is found?
A VUS requires further investigation and genetic counseling; it may not be diagnostic but should be monitored.
How accurate is the test?
The test uses NGS technology, which is highly accurate for detecting genetic variants, but no test is 100% infallible.
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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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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