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BMPR1A Gene Polyposis syndrome, hereditary mixed type 2 NGS Genetic Test

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BMPR1A Gene Polyposis syndrome, hereditary mixed type 2 NGS Genetic Test

Short Name: BMPR1A NGS

Also known as: BMPR1A Gene Mutation Test, HMPS2 Genetic Test, BMPR1A Polyposis NGS

BMPR1A Gene Polyposis syndrome, hereditary mixed type 2 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 Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to identify pathogenic variants in the BMPR1A gene that cause Hereditary Mixed Polyposis Syndrome Type 2. This test is indicated for individuals with a personal or family history of multiple colorectal polyps, especially those with mixed histology, early-onset polyposis, or a known BMPR1A mutation in the family. Genetic confirmation allows for tailored surveillance programs, risk assessment for at-risk relatives, and informed reproductive decisions. The test also aids in differentiating HMPS2 from other polyposis syndromes, guiding clinical management and surgical planning.

Test Code
6015
CPT Code
81408
ICD Code
Z15.09
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications of results. Please inform your doctor about any medications or supplements you are taking.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist. If using FTA card, a drop of blood from a finger prick will be placed on the card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be sent to the laboratory for analysis. Results will be available in 3 to 4 weeks.

Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Before the test, you will have a genetic counseling session to discuss your family history, the purpose of the test, and potential outcomes. No special preparation is needed.
2
During the Test:A blood sample is drawn from your arm, or a finger-prick blood spot is collected on an FTA card. The procedure takes only a few minutes.
3
After the Test:After the test, you can resume normal activities. Your doctor will discuss the results with you once they are available, typically in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic variants in the BMPR1A gene that cause Hereditary Mixed Polyposis Syndrome Type 2. This test is indicated for individuals with a personal or family history of multiple colorectal polyps, especially those with mixed histology, early-onset polyposis, or a known BMPR1A mutation in the family. Genetic confirmation allows for tailored surveillance programs, risk assessment for at-risk relatives, and informed reproductive decisions. The test also aids in differentiating HMPS2 from other polyposis syndromes, guiding clinical management and surgical planning.

How to Prepare

  • For blood sample: Use EDTA tube, fill to indicated mark.
  • For FTA card: Apply one drop of blood onto the designated circle, allow to air dry.
  • Label the sample with patient name, date, and time of collection.
  • Transport sample at ambient temperature (15-30°C) to the laboratory.

Doctor's Notes

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

"Genetic testing for BMPR1A mutations is crucial for early detection and management of hereditary polyposis syndromes, significantly reducing colorectal cancer risk through surveillance and prophylactic interventions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or 1 drop on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Blood in EDTA: 7 days at 2-8°C, 48 hours at room temperature
Extracted DNA: 1 year at -20°C
FTA card: Stable for years at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged transit time (>7 days) without proper storage

Understanding Your Results

The interpretation of BMPR1A gene NGS results should be performed by a qualified geneticist or oncologist. Results are reported as positive (pathogenic/likely pathogenic variant), negative (no variant), or VUS (variant of uncertain significance).
📊

Positive (Pathogenic/Likely Pathogenic)

Confirms diagnosis of Hereditary Mixed Polyposis Syndrome Type 2. Increased risk of colorectal cancer. Recommend regular colonoscopy surveillance starting at age 15-20, and consider prophylactic colectomy if polyps are numerous or high-grade dysplasia is present.

📊

Negative

No mutation detected in BMPR1A gene. However, this does not rule out other polyposis syndromes. Clinical correlation and further testing may be needed if strong family history persists.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unknown. Additional family studies and functional assays may help clarify. Surveillance should be based on personal and family history.

⚠️ When to Consult a Doctor:

If you have a family history of polyposis or colorectal cancer, or if you experience symptoms such as rectal bleeding, abdominal pain, or changes in bowel habits, consult your doctor for evaluation and possible genetic testing.

Limitations

  • ⚠This test only analyzes the BMPR1A gene; other polyposis genes are not covered.
  • ⚠Variant of uncertain significance (VUS) may require further family studies.
  • ⚠Mutations in non-coding regions or large structural variants may not be detected by standard NGS.
  • ⚠Test does not assess somatic mutations in tumor tissue.
  • ⚠Genetic counseling is recommended to interpret results.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of genetic testing results
  • ●Potential for uncertain results (VUS) requiring further investigation

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample quantity
  • ●Recent blood transfusion (within 2 weeks) may dilute DNA
  • ●Bone marrow transplantation can affect results
  • ●Presence of hematological malignancies

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ComparisonBMPR1A Gene Polyposis syndrome, hereditary mixed type 2 NGS Genetic Test

Frequently Asked Questions

What is BMPR1A Gene Polyposis Syndrome?
BMPR1A Gene Polyposis Syndrome, also known as Hereditary Mixed Polyposis Syndrome Type 2, is a rare genetic condition caused by mutations in the BMPR1A gene. It leads to the development of multiple polyps in the colon and rectum, increasing the risk of colorectal cancer.
What are the symptoms of BMPR1A Gene Polyposis Syndrome?
Common symptoms include abdominal pain, rectal bleeding, diarrhea, constipation, and unexplained weight loss. However, some individuals may be asymptomatic until polyps are detected on screening.
How is BMPR1A Gene Polyposis Syndrome diagnosed?
Diagnosis is based on clinical findings, colonoscopy, and genetic testing. NGS genetic testing can identify mutations in the BMPR1A gene, confirming the diagnosis.
What is the cost of the BMPR1A NGS Genetic Test at DNA Labs India?
The cost is INR 20,000, which includes free home sample collection and genetic counseling. The test is available across India.
What sample is required for the BMPR1A NGS test?
The sample can be blood (5 mL in EDTA tube), extracted DNA, or one drop of blood on an FTA card. The sample type is flexible for patient convenience.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample is received by the laboratory.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
Who should consider this genetic test?
Individuals with a personal or family history of multiple colorectal polyps, early-onset colorectal cancer, or known BMPR1A mutations should consider this test. Genetic counseling is recommended.
What does a positive result mean?
A positive result indicates the presence of a pathogenic or likely pathogenic variant in the BMPR1A gene, confirming the diagnosis of Hereditary Mixed Polyposis Syndrome Type 2. This requires regular surveillance and management.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the BMPR1A gene. However, it does not rule out other polyposis syndromes, and clinical correlation is necessary.
Can this test be done for children?
Yes, the test can be performed on individuals of any age, including children, if clinically indicated. Parental consent is required for minors.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in over 200 cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, and more.
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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