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B9D1 Gene Meckel syndrome type 9 NGS Genetic Test

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B9D1 Gene Meckel syndrome type 9 NGS Genetic Test

Short Name: Meckel Syndrome Type 9 NGS Test

Also known as: Meckel Syndrome Type 9, B9D1-related ciliopathy

B9D1 Gene Meckel syndrome type 9 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.

NGS Genetic Test🏠 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 pathogenic mutations in the B9D1 gene for the diagnosis of Meckel Syndrome Type 9, enabling early intervention, genetic counseling, and informed decision-making for affected families.

Test Code
5454
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.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as per guidelines.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a pedigree chart.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation and delivery, followed by counseling to interpret results.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the B9D1 gene for the diagnosis of Meckel Syndrome Type 9, enabling early intervention, genetic counseling, and informed decision-making for affected families.

How to Prepare

  • Use sterile equipment for blood collection
  • Label sample correctly with patient details
  • Transport sample at ambient temperature to the lab

Doctor's Notes

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

"This test is crucial for early diagnosis of Meckel Syndrome Type 9, aiding in family planning and management of symptoms."

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
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrect labeling or insufficient volume
  • Sample contaminated or improperly stored

Understanding Your Results

Results indicate the presence or absence of mutations in the B9D1 gene. A positive result confirms Meckel Syndrome Type 9, while a negative result may require further testing if clinical suspicion remains.
📊

Pathogenic variant detected

Confirms diagnosis of Meckel Syndrome Type 9. Genetic counseling recommended for family management.

📊

No pathogenic variant detected

B9D1 gene mutations not found. Consider other genetic tests if symptoms persist.

📊

Variant of uncertain significance

Further analysis or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or healthcare provider immediately after receiving results for personalized advice and management options.

Limitations

  • ⚠May not detect all possible mutations in the B9D1 gene
  • ⚠Results require interpretation by a genetic counselor
  • ⚠Does not rule out other genetic disorders with similar symptoms

Risks & Considerations

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

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Recent blood transfusion may affect results

Compare With Similar Tests

TestB9D1 Gene Meckel syndrome type 9 NGS Genetic TestOther ciliopathy gene panelsPrenatal genetic testing
ComparisonB9D1 Gene Meckel syndrome type 9 NGS Genetic TestThis test specifically targets B9D1, while panels may cover multiple genes.Used for early detection in pregnancy, whereas this test is for postnatal diagnosis.

Frequently Asked Questions

What is Meckel Syndrome Type 9?
Meckel Syndrome Type 9 is a rare genetic disorder caused by mutations in the B9D1 gene, leading to cilia dysfunction and multi-organ complications.
What are the symptoms of Meckel Syndrome Type 9?
Symptoms include cystic kidneys, enlarged liver, brain abnormalities, abnormal facial features, and respiratory problems.
How is Meckel Syndrome Type 9 diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS, to identify mutations in the B9D1 gene.
What is the cost of the B9D1 Gene Meckel Syndrome Type 9 NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
What sample is required for this test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is needed.
Is fasting required before the test?
No, fasting is not required for this genetic test.
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 across many cities in India.
What does a positive result mean?
A positive result confirms the presence of B9D1 gene mutations, indicating Meckel Syndrome Type 9.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal testing may require different methods.
Is genetic counseling included?
Yes, genetic counseling is provided to help interpret results and understand implications.
What should I do after receiving the results?
Consult a healthcare professional or genetic specialist for personalized advice and management.
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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