Skip to main content
DNA Labs India

BMPR1B Gene Chrondrodysplasia, acromesomelic, with genital anomalies NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

BMPR1B Gene Chrondrodysplasia, acromesomelic, with genital anomalies NGS Genetic Test

Also known as: CAMGA, Acromesomelic Chondrodysplasia with Genital Anomalies

BMPR1B Gene Chrondrodysplasia, acromesomelic, with genital anomalies NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)Pediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Chondrodysplasia, Acromesomelic, with Genital Anomalies (CAMGA) by identifying mutations in the BMPR1B gene using Next-Generation Sequencing (NGS) technology.

Test Code
5718
Price
₹20,000
Sample Type
Blood, 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

Provide detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of family members.

Step 2

Laboratory Analysis

Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Blood sample collection is performed by a trained professional.
3
After the Test:Results are delivered online, and follow-up genetic counseling is advised.

About This Test

Who Should Get This Test

To diagnose Chondrodysplasia, Acromesomelic, with Genital Anomalies (CAMGA) by identifying mutations in the BMPR1B gene using Next-Generation Sequencing (NGS) technology.

How to Prepare

  • Use sterile equipment for blood collection
  • Store samples as per guidelines (e.g., FTA card at room temperature)
  • Label samples correctly with patient details

Doctor's Notes

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

"Early genetic testing for CAMGA can guide management, inform family planning, and improve quality of life through timely interventions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card

Sample Stability

Blood at room temperatureUp to 48 hours
Extracted DNA at -20°CLong-term storage
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the BMPR1B gene associated with CAMGA.
📊

Pathogenic variant detected

Confirms diagnosis of CAMGA; genetic counseling recommended

📊

No pathogenic variant detected

CAMGA unlikely based on this gene; consider other genetic causes

📊

Variant of uncertain significance

Further testing or family studies may be needed

⚠️ When to Consult a Doctor:

If symptoms of CAMGA are present, such as short stature or limb abnormalities, or if there is a family history of the disorder. Consult a geneticist or pediatrician for evaluation and management.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Results require interpretation by a genetic specialist

Risks & Considerations

  • ●Minimal physical risks from blood draw
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is Chondrodysplasia, Acromesomelic, with Genital Anomalies (CAMGA)?
CAMGA is a rare genetic disorder affecting bone growth, causing short stature, limb abnormalities, and genital anomalies due to BMPR1B gene mutations.
What causes CAMGA?
CAMGA is caused by mutations in the BMPR1B gene, which is involved in bone development and regulation.
What are the symptoms of CAMGA?
Symptoms include short stature, shortened forearms and lower legs, abnormally shaped fingers and toes, and genital malformations, typically appearing in infancy or early childhood.
How is CAMGA diagnosed?
Diagnosis involves physical examination, X-rays, and genetic testing such as NGS to identify BMPR1B gene mutations.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a advanced method that analyzes multiple genes or entire genomes to detect mutations, useful for rare disorders like CAMGA.
How accurate is the BMPR1B gene test?
The test is highly accurate and reliable for detecting pathogenic mutations in the BMPR1B gene, but results should be interpreted by a genetic specialist.
What sample is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is genetic counseling provided?
Yes, DNA Labs India offers genetic counseling sessions to help understand results and implications.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal testing may require different methods and consultation with a specialist.
What are the treatment options for CAMGA?
Treatment focuses on symptom management, such as orthopedic interventions and supportive care, guided by early diagnosis.
How can I book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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.

Related Tests

Amino Acids Qualitative Two Dimensional Urine Test

₹1,439

Succinylacetone Urine Test

₹5,000

RXFP2 Gene Cryptorchidism NGS Genetic Test

₹20,000

EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test

₹20,000

MNX1 Gene Currarino syndrome NGS Genetic Test

₹20,000

FGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.