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RUNX1 Gene Platelet disorder with associated myeloid malignancy NGS Genetic Test

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RUNX1 Gene Platelet disorder with associated myeloid malignancy NGS Genetic Test

Also known as: Familial platelet disorder with associated myeloid malignancy (FPDMM)

RUNX1 Gene Platelet disorder with associated myeloid malignancy 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 3 to 4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose RUNX1 gene platelet disorder with associated myeloid malignancy using NGS technology, enabling early detection and management of this genetic condition.

Test Code
5612
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using an FTA card for one drop of blood.

Step 3

Report Delivery

Await results for 3 to 4 weeks; reports will be delivered online, via email, or WhatsApp.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required before sample collection.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Results are analyzed and reported within 3 to 4 weeks.

About This Test

Who Should Get This Test

To diagnose RUNX1 gene platelet disorder with associated myeloid malignancy using NGS technology, enabling early detection and management of this genetic condition.

How to Prepare

  • Fast for 8-12 hours if specified by physician
  • Avoid strenuous activity before sample collection
  • Bring identification and doctor's prescription

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Consult a doctor if you experience symptoms like easy bruising, bleeding, or have a family history of platelet disorders. Early diagnosis with NGS testing can guide management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples: stable at room temperature for 24 hours
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted samples
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the RUNX1 gene. Consult a genetic counselor or hematologist for interpretation.
📊

No pathogenic variants detected

Normal; no RUNX1 mutations associated with FPDMM found.

📊

Pathogenic variant detected

Abnormal; confirms diagnosis of RUNX1 gene platelet disorder with myeloid malignancy risk.

⚠️ When to Consult a Doctor:

If you experience symptoms like easy bruising, bleeding, or have abnormal test results, consult a hematologist or genetic specialist immediately.

Limitations

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

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is RUNX1 Gene Platelet Disorder?
It is a rare genetic condition caused by mutations in the RUNX1 gene, leading to platelet dysfunction and increased risk of myeloid malignancies, also known as familial platelet disorder with associated myeloid malignancy (FPDMM).
What are the symptoms of RUNX1 Gene Platelet Disorder?
Symptoms include easy bruising, nosebleeds, heavy menstrual periods, red or purple skin spots, and petechiae (small red dots).
How is RUNX1 Gene Platelet Disorder diagnosed?
Diagnosis involves blood tests to check platelet count and function, followed by confirmatory NGS genetic testing to identify RUNX1 gene mutations.
What is the NGS Genetic Test for RUNX1 Gene Platelet Disorder?
It is a next-generation sequencing test that analyzes DNA to detect mutations in the RUNX1 gene, providing accurate diagnosis of the condition.
What is the cost of the test at DNA Labs India?
The cost is INR 20000, which includes genetic counseling, sample collection, DNA sequencing, and result analysis.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before the test?
Fasting is not typically required, but follow any specific instructions from your doctor or the lab.
What should I do if I have symptoms?
Consult a doctor immediately for evaluation; they may recommend blood tests and genetic testing.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider for details.
How accurate is the NGS Genetic Test?
The test is highly accurate and can detect even small mutations in the RUNX1 gene, but results should be interpreted by a healthcare professional.
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.

LIMS Integration

Your Data Privacy

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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