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B9D2 Gene Meckel syndrome type 10 NGS Genetic Test

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B9D2 Gene Meckel syndrome type 10 NGS Genetic Test

Also known as: Meckel Syndrome Type 10, B9D2-Related Meckel Syndrome

B9D2 Gene Meckel syndrome type 10 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.

Next Generation Sequencing (NGS) Genetic Test🏠 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 Meckel syndrome type 10 by identifying pathogenic mutations in the B9D2 gene using Next Generation Sequencing (NGS) technology.

Test Code
5450
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

Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with Meckel syndrome type 10.

Step 2

Laboratory Analysis

Standard blood draw or collection of saliva/FTA card sample.

Step 3

Report Delivery

Apply pressure to puncture site; monitor for any adverse effects.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Sample collection via blood draw or alternative method.
3
After the Test:Results reviewed by geneticist; follow-up counseling recommended.

About This Test

Who Should Get This Test

To diagnose Meckel syndrome type 10 by identifying pathogenic mutations in the B9D2 gene using Next Generation Sequencing (NGS) technology.

How to Prepare

  • Blood sample or extracted DNA
  • One drop blood on FTA card
  • Ensure proper labeling and handling

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: 2-8°C for 7 days
FTA card: Room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the B9D2 gene associated with Meckel syndrome type 10.
Positive: Pathogenic variant detected, confirming diagnosis of Meckel syndrome type 10.
Negative: No pathogenic variants detected, but clinical correlation is needed; other genetic causes may be considered.
Variant of uncertain significance: Further testing or family studies recommended for clarification.
⚠️ When to Consult a Doctor:

If symptoms of Meckel syndrome type 10 are present, such as encephalocele or cystic kidneys, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination

Frequently Asked Questions

What is Meckel syndrome type 10?
Meckel syndrome type 10 is a rare genetic disorder caused by mutations in the B9D2 gene, leading to severe symptoms affecting the brain, kidneys, and liver, such as encephalocele and cystic kidneys.
What causes Meckel syndrome type 10?
It is caused by mutations in the B9D2 gene, which is inherited in an autosomal recessive pattern.
What are the symptoms of Meckel syndrome type 10?
Symptoms include encephalocele, polydactyly, cystic kidneys, liver fibrosis, eye abnormalities, and genital anomalies, typically present at birth.
How is Meckel syndrome type 10 diagnosed?
Diagnosis is confirmed through genetic testing, such as the B9D2 gene NGS test, which identifies mutations in the B9D2 gene.
What is the B9D2 gene test?
It is a Next Generation Sequencing (NGS) genetic test that examines the entire B9D2 gene to detect mutations associated with Meckel syndrome type 10.
How much does the B9D2 gene test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
What sample is required for the test?
The test can be performed using 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 home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What cities is the test available in?
The test is available in numerous cities including Mumbai, Delhi, Bangalore, Hyderabad, and many others listed on our website.
What should I do if I have a family history of Meckel syndrome?
Consult a genetic counselor or physician for assessment and consider genetic testing to confirm carrier status or diagnosis.
How can genetic testing help in managing Meckel syndrome type 10?
Genetic testing provides a definitive diagnosis, guides treatment decisions, helps in family planning, and enables early intervention to manage symptoms.
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

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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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