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BMPR1B Gene Brachydactyly type A2 NGS Genetic Test

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BMPR1B Gene Brachydactyly type A2 NGS Genetic Test

Short Name: BMPR1B Gene Test

Also known as: Brachydactyly type A2 genetic test, BMPR1B mutation analysis, Skeletal dysplasia genetic test

BMPR1B Gene Brachydactyly type A2 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.

PediatricsAll 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

The purpose of this test is to detect mutations in the BMPR1B gene associated with Brachydactyly type A2, enabling accurate diagnosis, carrier testing, and informed medical management for affected individuals and their families.

Test Code
5683
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

No specific preparation required. Ensure genetic counseling session is scheduled to discuss family history and draw a pedigree chart.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or a finger-prick for FTA card. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bruising. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications and family history.
2
During the Test:Sample collection via blood draw or saliva.
3
After the Test:Wait for results and schedule follow-up consultation for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the BMPR1B gene associated with Brachydactyly type A2, enabling accurate diagnosis, carrier testing, and informed medical management for affected individuals and their families.

How to Prepare

  • Schedule a genetic counseling session prior to sample collection
  • Provide detailed clinical and family history
  • Ensure the sample is collected in a sterile environment
  • Label the sample correctly with patient details

Doctor's Notes

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

"This test is essential for confirming diagnosis, understanding inheritance patterns, and guiding family planning for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for several years if stored properly
FTA card samples: Stable for long-term storage at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the BMPR1B gene. A positive result confirms a diagnosis of Brachydactyly type A2, while a negative result may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of Brachydactyly type A2. Genetic counseling and management strategies should be discussed.

📊

No pathogenic variant detected

Does not rule out other genetic causes. Clinical correlation and additional testing may be needed.

📊

Variant of uncertain significance

Further family studies or functional analysis may be required for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric specialist if you have a family history of Brachydactyly, observe symptoms in your child, or receive a positive test result for guidance on management and family planning.

Limitations

  • ⚠This test may not detect all possible mutations in the BMPR1B gene
  • ⚠Results should be interpreted in conjunction with clinical findings and family history
  • ⚠Genetic counseling is recommended for understanding implications

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain or bruising
  • ●Psychological impact of genetic results may require counseling

Interfering Factors

  • ●Sample contamination or degradation
  • ●Recent blood transfusions may affect DNA analysis
  • ●Inadequate sample volume or improper storage

Frequently Asked Questions

What is Brachydactyly type A2?
Brachydactyly type A2 is a rare genetic disorder that causes shortened fingers and toes due to mutations in the BMPR1B gene, affecting bone development.
What causes Brachydactyly type A2?
It is caused by mutations in the BMPR1B gene, which is involved in regulating bone growth and development.
How is the BMPR1B Gene Test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood or saliva sample for mutations in the BMPR1B gene.
What is the cost of the BMPR1B Gene Test in India?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required for this test?
No, fasting is not required for the BMPR1B Gene Test.
Can this test be done during pregnancy?
Yes, prenatal testing may be possible through genetic counseling, but consult a specialist for options.
What are the symptoms of Brachydactyly type A2?
Symptoms include short, stubby fingers and toes, which may be curved or fused, and difficulty with fine motor tasks.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What should I do if I receive a positive result?
Consult a genetic counselor or specialist to discuss management, treatment options, and family planning.
Is this test covered by insurance?
Coverage varies; check with your insurance provider. Government schemes like PMJAY may not cover it.
How accurate is the NGS genetic test?
NGS technology provides high accuracy for detecting mutations, but results should be interpreted with clinical findings.
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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