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DNA Labs India

BMP2 Gene Brachydactyly type A2 NGS Genetic Test

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BMP2 Gene Brachydactyly type A2 NGS Genetic Test

Short Name: BMP2 Brachydactyly A2 NGS Test

Also known as: BMP2 gene mutation test, Brachydactyly type A2 genetic test, BMP2-related brachydactyly test

BMP2 Gene Brachydactyly type A2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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.

PediatricsPediatric🏠 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

The purpose of the BMP2 Gene Brachydactyly type A2 NGS Genetic Test is to detect mutations in the BMP2 gene to confirm a diagnosis of Brachydactyly type A2, differentiate it from other skeletal dysplasias, and provide information for genetic counseling, family planning, and personalized management of the condition.

Test Code
5679
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 (Next Generation Sequencing)
Step 1

Sample Collection

No specific preparation required. Ensure patient identification and consent are obtained.

Method: Venipuncture

Step 2

Laboratory Analysis

Collect blood sample via venipuncture using standard aseptic techniques. For FTA card, apply one drop of blood as per instructions.

Step 3

Report Delivery

Label the sample correctly and transport to the laboratory at ambient room temperature. Avoid hemolysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No specific preparation required. Provide clinical history and undergo genetic counseling if needed.
2
During the Test:A blood sample will be drawn from a vein in your arm. The procedure is quick and minimally invasive.
3
After the Test:Apply pressure to the puncture site to prevent bleeding. Resume normal activities. Results will be available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of the BMP2 Gene Brachydactyly type A2 NGS Genetic Test is to detect mutations in the BMP2 gene to confirm a diagnosis of Brachydactyly type A2, differentiate it from other skeletal dysplasias, and provide information for genetic counseling, family planning, and personalized management of the condition.

How to Prepare

  • Verify patient identity and test order
  • Use appropriate collection tubes (EDTA or FTA card)
  • Follow standard phlebotomy procedures
  • Ensure sample is labeled with patient details and date
  • Transport sample to lab within 24 hours

Doctor's Notes

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

"Genetic testing for BMP2 mutations is crucial for confirming Brachydactyly type A2, guiding family counseling, and informing management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per standard protocol
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at 2-8°C for up to 7 days
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or identification

Understanding Your Results

Results from the BMP2 Gene Brachydactyly type A2 NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider. A positive result indicates the presence of a pathogenic mutation in the BMP2 gene, confirming the diagnosis of Brachydactyly type A2. A negative result suggests no detectable mutation, but does not rule out other genetic causes.
📊

Pathogenic BMP2 mutation detected, confirming Brachydactyly type A2. Genetic counseling recommended for family implications.

Result type: Positive

📊

No pathogenic BMP2 variants detected. Consider other genetic tests if clinical suspicion remains.

Result type: Negative

📊

A genetic variant was found but its clinical significance is unknown. Further testing and family studies may be needed.

Result type: Variant of uncertain significance

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if you have symptoms of Brachydactyly type A2, a family history of the condition, or after receiving test results for guidance on management and family planning.

Limitations

  • ⚠May not detect all types of BMP2 mutations or variants of uncertain significance
  • ⚠Requires genetic counseling for proper interpretation of results
  • ⚠Limited to mutations in the BMP2 gene; other genetic causes of brachydactyly may not be identified

Risks & Considerations

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

Interfering Factors

  • ●Hemolyzed or degraded DNA samples may affect test accuracy
  • ●Contamination during sample collection or processing

Frequently Asked Questions

What is BMP2 Gene Brachydactyly type A2?
It is a genetic condition caused by mutations in the BMP2 gene, leading to shortened fingers and toes due to abnormal bone development.
How is the BMP2 genetic test performed?
The test uses Next Generation Sequencing (NGS) on a blood sample to detect mutations in the BMP2 gene.
What is the cost of the BMP2 Gene Brachydactyly type A2 NGS Genetic Test?
The cost at DNA Labs India is INR 20,000, which includes test interpretation and genetic counseling.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
What are the symptoms of Brachydactyly type A2?
Main symptoms include shortened fingers and toes, with possible nail abnormalities and variable severity.
How is Brachydactyly type A2 diagnosed?
Diagnosis involves physical examination, X-rays, and genetic testing to confirm BMP2 gene mutations.
What does a positive test result mean?
A positive result confirms a pathogenic BMP2 mutation, indicating Brachydactyly type A2, and genetic counseling is recommended.
Is genetic counseling included with the test?
Yes, the test cost includes genetic counseling to help interpret results and discuss implications.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings if there is a known family history, but consultation with a genetic counselor is advised.
What are the risks associated with the test?
Risks are minimal, such as minor bruising from blood draw. No significant health risks are associated with the test itself.
How accurate is the NGS genetic test for BMP2 mutations?
NGS technology is highly accurate for detecting mutations, but accuracy depends on sample quality and mutation type. Genetic counseling is essential for interpretation.
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.

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