DICER1 Gene Pleuropulmonary blastoma NGS Genetic Test
Short Name: DICER1 PPB NGS Test
Also known as: DICER1 Mutation Test, PPB Genetic Test, DICER1 Gene Sequencing
DICER1 Gene Pleuropulmonary blastoma 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 from sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of this test is to identify pathogenic mutations in the DICER1 gene that increase the risk of developing pleuropulmonary blastoma (PPB) and other DICER1-related tumors. Early detection allows for timely medical intervention, regular monitoring, and genetic counseling for affected families. The test also aids in confirming a clinical diagnosis of PPB, guiding treatment decisions, and assessing risk in asymptomatic family members.
- Test Code
- 6013
- CPT Code
- 81479
- ICD Code
- C39.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications of results. Please provide a detailed clinical history and family pedigree.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient. Ensure the sample is properly labeled.
Report Delivery
No specific aftercare is needed. The sample will be transported to the laboratory for analysis. Results will be available in 3 to 4 weeks.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify pathogenic mutations in the DICER1 gene that increase the risk of developing pleuropulmonary blastoma (PPB) and other DICER1-related tumors. Early detection allows for timely medical intervention, regular monitoring, and genetic counseling for affected families. The test also aids in confirming a clinical diagnosis of PPB, guiding treatment decisions, and assessing risk in asymptomatic family members.
How to Prepare
- For blood sample: Use EDTA tube, collect 3-5 ml of peripheral blood.
- For FTA card: Apply one drop of blood onto the designated circle and allow to air dry.
- Label the sample with patient name, date of birth, and collection date.
- Maintain sample at ambient temperature during transport.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early identification of DICER1 mutations is crucial for managing PPB risk. This test enables proactive surveillance and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample exposed to extreme temperatures
Understanding Your Results
Positive (Pathogenic variant detected)
Individual has an increased risk of developing PPB and other DICER1-related tumors. Regular surveillance and preventive measures are recommended. Family members should be offered testing.
Negative (No pathogenic variant detected)
No DICER1 mutation identified. However, if clinical suspicion remains high, consider other genetic causes or re-evaluation.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is unknown. Additional testing of family members may help clarify.
Consult a doctor if your child exhibits persistent respiratory symptoms such as cough, shortness of breath, chest pain, fever, wheezing, weight loss, or fatigue. Also, if there is a family history of PPB or DICER1-related tumors, genetic counseling and testing are advised.
Limitations
- ⚠This test detects mutations in the DICER1 gene only; other genetic causes of PPB are not evaluated.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variants of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Test results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic testing results
- ●Potential for variant of uncertain significance causing anxiety
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute DNA)
- ●Presence of hematological malignancies affecting DNA extraction
Compare With Similar Tests
| Test | DICER1 Gene Pleuropulmonary blastoma NGS Genetic Test | DICER1 Single Gene Sequencing | Comprehensive Cancer Panel |
|---|---|---|---|
| Comparison | DICER1 Gene Pleuropulmonary blastoma NGS Genetic Test |
Frequently Asked Questions
What is the DICER1 gene and its role in PPB?
Who should consider this test?
How is the test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done on children?
What does a positive result mean?
What does a negative result mean?
What is a variant of uncertain significance (VUS)?
Is genetic counseling provided?
Is home sample collection available?
Related Tests
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.
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.