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MPL Gene Thrombocytopenia congenital amegakaryocytic NGS Genetic Test

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MPL Gene Thrombocytopenia congenital amegakaryocytic NGS Genetic Test

Short Name: MPL Gene Thrombocytopenia NGS Test

Also known as: Congenital Amegakaryocytic Thrombocytopenia, MPL Deficiency, CAMT

MPL Gene Thrombocytopenia congenital amegakaryocytic NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood, Extracted DNA, or FTA Card 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the MPL gene causing congenital amegakaryocytic thrombocytopenia, enabling accurate diagnosis, genetic counseling, and personalized treatment.

Test Code
5632
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications and draw a pedigree chart.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture or finger prick.

Step 3

Report Delivery

Sample is labeled and transported to the laboratory at ambient temperature for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test purpose, implications, and obtain informed consent.
2
During the Test:Blood sample collection via venipuncture or finger prick.
3
After the Test:Wait for report delivery in 3-4 weeks and schedule follow-up consultation for result interpretation.

About This Test

Who Should Get This Test

To identify mutations in the MPL gene causing congenital amegakaryocytic thrombocytopenia, enabling accurate diagnosis, genetic counseling, and personalized treatment.

How to Prepare

  • Avoid hemolysis during collection
  • Label sample correctly with patient details
  • Transport at ambient room temperature

Doctor's Notes

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

"This test is crucial for diagnosing congenital thrombocytopenia, guiding treatment, and informing family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card
Sample Volume5-10 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood: 48 hours at room temperature
Extracted DNA: stable for longer periods if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Incorrect container or labeling
  • Contaminated or hemolyzed sample

Understanding Your Results

Results indicate the presence or absence of mutations in the MPL gene associated with congenital amegakaryocytic thrombocytopenia.
📊

Positive

Pathogenic mutation detected in MPL gene, confirming diagnosis. Clinical correlation and genetic counseling advised.

📊

Negative

No pathogenic variants found. Consider other genetic or acquired causes of thrombocytopenia.

📊

Variant of Uncertain Significance

Genetic variant identified but significance unclear. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms persist, worsen, or if there is a family history of thrombocytopenia, consult a hematologist or geneticist for further evaluation.

Limitations

  • ⚠May not detect all mutations
  • ⚠Requires genetic counseling
  • ⚠Not for prenatal diagnosis unless specified

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated sample
  • ●Degraded DNA
  • ●Recent blood transfusion

Compare With Similar Tests

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ComparisonMPL Gene Thrombocytopenia congenital amegakaryocytic NGS Genetic Test

Frequently Asked Questions

What is MPL Gene Thrombocytopenia?
It is a rare genetic disorder caused by mutations in the MPL gene, leading to low platelet counts and symptoms like bruising and bleeding.
What are the symptoms of this disorder?
Symptoms include low platelet count, easy bruising, prolonged bleeding, fatigue, weakness, and enlarged spleen.
How is the test performed?
The test uses NGS technology to analyze DNA from blood samples or extracted DNA to identify mutations in the MPL gene.
What is the cost of the test?
The cost at DNA Labs India is INR 20,000, which includes DNA analysis and a clinical report.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the MPL gene, confirming the diagnosis of congenital amegakaryocytic thrombocytopenia.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications and guide management.
Can this test be used for prenatal diagnosis?
It is not typically used for prenatal diagnosis unless specified; consult a geneticist for prenatal testing options.
What are the risks of the test?
Risks are minimal, mainly related to blood draw, such as bruising or infection, and potential psychological impact of results.
Is the test covered by insurance?
Coverage depends on the insurance provider; check with your insurer for details.
How accurate is the NGS technology?
NGS technology is highly accurate and sensitive for detecting genetic mutations, 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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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

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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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