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CEP290 Gene Meckel syndrome type 4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CEP290 Gene Meckel syndrome type 4 NGS Genetic Test

Short Name: Meckel Syndrome Type 4 Genetic Test

Also known as: CEP290 Mutation Analysis, Meckel Syndrome Type 4 DNA Test

CEP290 Gene Meckel syndrome type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

To diagnose Meckel Syndrome Type 4 by identifying pathogenic mutations in the CEP290 gene using NGS technology, enabling accurate clinical management and genetic counseling.

Test Code
5451
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 Technology
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree during genetic counseling.

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained professional; alternatively, one drop on FTA card.

Step 3

Report Delivery

Apply pressure to puncture site; store sample as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw family pedigree.
2
During the Test:Sample undergoes NGS analysis in a certified laboratory.
3
After the Test:Results reviewed by a geneticist; report includes mutation details and clinical correlation.

About This Test

Who Should Get This Test

To diagnose Meckel Syndrome Type 4 by identifying pathogenic mutations in the CEP290 gene using NGS technology, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Ensure proper labeling of sample
  • Use sterile collection tubes
  • Transport at ambient temperature if on FTA card

Doctor's Notes

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

"Early genetic testing for Meckel Syndrome Type 4 is crucial for family planning, management, and counseling due to its autosomal recessive inheritance."

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 up to 7 days
FTA card: Room temperature for extended periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the CEP290 gene. Positive findings confirm Meckel Syndrome Type 4 diagnosis, while negative results may require further testing if clinical suspicion remains.
📊

Pathogenic variant detected

Confirms diagnosis; genetic counseling recommended for family screening.

📊

No pathogenic variant detected

Reduces likelihood but does not rule out other genetic causes; consider clinical evaluation.

📊

Variant of uncertain significance

Requires further analysis and family studies for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms of Meckel Syndrome are present, or for family planning if carrier status is identified.

Limitations

  • ⚠May not detect all mutation types (e.g., deep intronic variants)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection
  • ●Psychological impact of results; counseling provided

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestCEP290 Gene Meckel syndrome type 4 NGS Genetic TestBardet-Biedl Syndrome Genetic TestJoubert Syndrome Genetic Test
ComparisonCEP290 Gene Meckel syndrome type 4 NGS Genetic TestTests for different ciliopathy genes; overlaps in symptoms like polydactyly.Focuses on other ciliopathy genes; may share neurological features.

Frequently Asked Questions

What is Meckel Syndrome Type 4?
It is a rare genetic disorder caused by CEP290 gene mutations, affecting multiple organs with symptoms like polydactyly and kidney abnormalities.
How is Meckel Syndrome Type 4 inherited?
It follows autosomal recessive inheritance; both parents must be carriers for a child to be affected.
What are the common symptoms?
Symptoms include extra fingers/toes, brain protrusion, cleft lip/palate, small head, kidney and liver issues, and eye defects.
How is the test performed?
Using NGS technology to sequence the CEP290 gene from a blood or DNA sample.
What is the cost of the test in India?
The test costs INR 20,000 at DNA Labs India, with home collection available.
Is home sample collection available?
Yes, free home collection is offered across many cities in India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider this test?
Individuals with symptoms of Meckel Syndrome or family history, and for carrier screening in families.
What does a positive result mean?
It confirms diagnosis of Meckel Syndrome Type 4; genetic counseling is recommended for management and family planning.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. Government schemes like PMJAY may not cover it.
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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