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DNA Labs India

ACTN1 Gene Bleeding disorder, platelet-type 15 NGS Genetic Test

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ACTN1 Gene Bleeding disorder, platelet-type 15 NGS Genetic Test

Short Name: ACTN1 Gene Bleeding Disorder Test

Also known as: Platelet-type 15 bleeding disorder, ACTN1-related bleeding disorder

ACTN1 Gene Bleeding disorder, platelet-type 15 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next Generation Sequencing on Blood samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 diagnose ACTN1 gene bleeding disorder, platelet-type 15 using advanced NGS technology, enabling accurate identification of genetic variants for effective clinical management.

Test Code
2657
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS, Next Generation Sequencing
Step 1

Sample Collection

A clinical history review and genetic counseling session are recommended to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture in a sterile environment.

Step 3

Report Delivery

The sample is processed for DNA extraction and analyzed using NGS technology.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required prior to testing.
2
During the Test:Blood sample collection and processing for DNA analysis.
3
After the Test:Results are reviewed by a geneticist and discussed with the patient for appropriate management.

About This Test

Who Should Get This Test

To diagnose ACTN1 gene bleeding disorder, platelet-type 15 using advanced NGS technology, enabling accurate identification of genetic variants for effective clinical management.

How to Prepare

  • No fasting required
  • Bring referral from a physician
  • Provide detailed family history of bleeding disorders
  • Ensure sample is labeled correctly

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing bleeding disorders effectively and guiding treatment decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5-10 mL
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for up to 24 hours
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ACTN1 gene, which are associated with platelet-type 15 bleeding disorder.
📊

Positive for pathogenic variant

Confirms diagnosis of ACTN1 gene bleeding disorder; genetic counseling and clinical management recommended.

📊

Negative for pathogenic variant

No pathogenic variants detected; clinical correlation advised if symptoms persist.

📊

Variant of uncertain significance

Further testing, family studies, or clinical follow-up may be needed for clarification.

⚠️ When to Consult a Doctor:

If experiencing symptoms of bleeding disorders, such as easy bruising or excessive bleeding, or for family planning advice after a positive test result.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Results should be correlated with clinical history

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic test results

Interfering Factors

  • ●Hemolyzed blood sample
  • ●Contaminated or degraded DNA
  • ●Recent blood transfusion

Compare With Similar Tests

TestACTN1 Gene Bleeding disorder, platelet-type 15 NGS Genetic Test
ComparisonACTN1 Gene Bleeding disorder, platelet-type 15 NGS Genetic Test

Frequently Asked Questions

What is ACTN1 Gene Bleeding Disorder, Platelet-Type 15?
It is a rare genetic disorder caused by mutations in the ACTN1 gene, leading to dysfunctional platelets and bleeding issues.
What are the common symptoms of this disorder?
Symptoms include easy bruising, excessive bleeding after injury, bleeding gums or nose, heavy menstrual periods, and digestive tract bleeding.
How is the disorder diagnosed?
Diagnosis is confirmed through an NGS Genetic Test that analyzes the ACTN1 gene for pathogenic variants.
What is the NGS Genetic Test?
Next Generation Sequencing (NGS) is an advanced genetic testing method that accurately detects small genetic variations in DNA.
What is the cost of the test in India?
The cost is INR 20,000 at DNA Labs India, with free home sample collection available.
Is the test covered by insurance?
Typically, this genetic test is not covered by insurance, and patients may need to bear the cost.
How long does it take to get the results?
Results are usually available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What should I do before the test?
A genetic counseling session and providing clinical and family history are recommended before testing.
How accurate is the NGS test?
NGS is highly accurate for detecting genetic mutations, but results should be interpreted by a genetic specialist.
Can this disorder be treated?
While there is no cure, management includes avoiding bleeding triggers, using medications, and in severe cases, platelet transfusions.
Where can I get this test done?
The test is available at DNA Labs India laboratories, with home collection services in numerous cities nationwide.
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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