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PEAR1 Gene Platelet aggregation disorder NGS Genetic Test

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PEAR1 Gene Platelet aggregation disorder NGS Genetic Test

Short Name: PEAR1 NGS Test

Also known as: PEAR1 gene disorder, Platelet aggregation disorder PEAR1, PEAR1-related platelet dysfunction

PEAR1 Gene Platelet aggregation disorder 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

To identify mutations or abnormalities in the PEAR1 gene that cause platelet aggregation disorders, aiding in diagnosis, risk assessment, and personalized treatment planning.

Test Code
5610
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 required, but inform your doctor about any medications or recent medical procedures.

Method: Venipuncture for blood, Saliva collection for DNA

Step 2

Laboratory Analysis

A small blood sample will be drawn from a vein, or a saliva sample will be collected using a kit.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider to discuss symptoms and family history. Genetic counseling is recommended.
2
During the Test:Sample collection is quick and non-invasive, typically taking a few minutes.
3
After the Test:Results are available in 3-4 weeks. Follow up with your doctor to discuss findings and next steps.

About This Test

Who Should Get This Test

To identify mutations or abnormalities in the PEAR1 gene that cause platelet aggregation disorders, aiding in diagnosis, risk assessment, and personalized treatment planning.

How to Prepare

  • For blood sample: Avoid strenuous activity before collection.
  • For saliva sample: Avoid eating or drinking 30 minutes before collection.
  • Ensure proper labeling of the sample.

Doctor's Notes

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

"Genetic testing for PEAR1 gene mutations is essential for early diagnosis and personalized management of platelet aggregation disorders, especially in patients with unexplained bleeding symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
Collection MethodVenipuncture for blood, Saliva collection for DNA

Sample Stability

Blood samples stable for 24 hours at room temperature
Longer stability if refrigerated
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PEAR1 gene. Clinical correlation is essential for accurate diagnosis.
📊

Positive

Presence of pathogenic variant in PEAR1 gene, suggesting increased risk for platelet aggregation disorder.

📊

Negative

No pathogenic variants detected, but clinical symptoms may require further testing.

📊

Variant of uncertain significance

May need additional family studies or functional assays for clarification.

⚠️ When to Consult a Doctor:

If symptoms persist or worsen after testing, or if there is a family history of genetic disorders, consult a hematologist or genetic counselor.

Limitations

  • May not detect all genetic variants
  • Results require clinical correlation
  • Does not rule out other platelet disorders

Risks & Considerations

  • Minimal risks from blood draw, such as bruising or infection
  • No significant risks from saliva collection

Interfering Factors

  • Sample contamination
  • Improper sample storage
  • Recent blood transfusions

Frequently Asked Questions

What is the PEAR1 Gene Platelet Aggregation Disorder NGS Genetic Test?
It is a genetic test that uses NGS technology to analyze the PEAR1 gene for mutations causing platelet aggregation disorders.
Who should consider this test?
Individuals with symptoms like easy bruising, excessive bleeding, or a family history of platelet disorders should consider this test.
How is the test performed?
A blood or saliva sample is collected and analyzed in a laboratory using NGS technology.
What are the symptoms of PEAR1 gene disorder?
Symptoms include easy bruising, excessive bleeding from cuts, frequent nosebleeds, heavy menstrual bleeding, and bleeding gums.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The test costs INR 20,000, which includes genetic counseling and consultation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the PEAR1 gene, suggesting an increased risk for platelet aggregation disorder.
Can the test be done on children?
Yes, the test can be performed on individuals of all ages, but consultation with a pediatric geneticist is recommended.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS.
What should I do before the test?
Consult with your doctor and consider genetic counseling. No fasting is required.
How accurate is the test?
The test uses advanced NGS technology for high accuracy, but results should be interpreted in clinical context.
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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