Skip to main content
DNA Labs India

TCTN2 Gene Meckel syndrome type 8 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TCTN2 Gene Meckel syndrome type 8 NGS Genetic Test

Short Name: Meckel Syndrome Type 8 Genetic Test

Also known as: Meckel Syndrome Type 8, TCTN2-Related Meckel Syndrome

TCTN2 Gene Meckel syndrome type 8 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)All 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 pathogenic variants in the TCTN2 gene to confirm a diagnosis of Meckel Syndrome Type 8, facilitate carrier identification, support prenatal diagnosis, and guide genetic counseling and management strategies.

Test Code
5452
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 review and genetic counseling session to draw a pedigree chart of family members.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or collection of a blood drop on an FTA card.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis in the laboratory.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation to determine test necessity.
2
During the Test:Sample collection and laboratory analysis using NGS technology.
3
After the Test:Report delivery and consultation with a genetic specialist for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the TCTN2 gene to confirm a diagnosis of Meckel Syndrome Type 8, facilitate carrier identification, support prenatal diagnosis, and guide genetic counseling and management strategies.

How to Prepare

  • Provide detailed clinical history of the patient
  • Undergo a genetic counseling session to assess family history
  • Ensure proper sample labeling and handling

Doctor's Notes

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

"This test is crucial for early diagnosis, genetic counseling, and family planning in cases of suspected Meckel Syndrome Type 8, aiding in informed clinical decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeVaries
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples: Stable for 24-48 hours at room temperature
Extracted DNA: Stable for longer periods when stored appropriately
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic variants in the TCTN2 gene, with correlation to clinical findings and family history.
Positive result: Pathogenic variant detected, confirming diagnosis or carrier status
Negative result: No pathogenic variants detected, but clinical suspicion may warrant further testing
Variant of uncertain significance: Requires additional family studies or functional analysis
⚠️ When to Consult a Doctor:

Consult a healthcare professional if symptoms of Meckel Syndrome are present, for genetic counseling after a positive result, or for family planning advice.

Limitations

  • ⚠May not detect all possible genetic variants, including deep intronic mutations
  • ⚠Requires genetic counseling for result interpretation
  • ⚠Not suitable for detecting chromosomal abnormalities

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, requiring counseling support

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Hemolyzed or improperly stored samples

Compare With Similar Tests

TestTCTN2 Gene Meckel syndrome type 8 NGS Genetic TestMKS1 Gene Meckel Syndrome TestCiliopathy Gene PanelWhole Exome Sequencing
ComparisonTCTN2 Gene Meckel syndrome type 8 NGS Genetic Test

Frequently Asked Questions

What is Meckel Syndrome Type 8?
Meckel Syndrome Type 8 is a rare genetic disorder caused by mutations in the TCTN2 gene, leading to developmental abnormalities in multiple organs.
What does the TCTN2 gene test involve?
The test uses Next Generation Sequencing (NGS) to analyze the TCTN2 gene for mutations from a blood or DNA sample.
How is the test performed?
A blood sample is collected via venipuncture or an FTA card, and DNA is extracted and sequenced in the laboratory.
What is the cost of the test?
The cost is INR 20000, which includes home sample collection and genetic counseling.
Is home collection available?
Yes, free home sample collection is offered across India for online bookings.
How long does it take to get results?
Reports are typically delivered within 3 to 4 weeks after sample collection.
What are the symptoms of Meckel Syndrome?
Symptoms include brain abnormalities, cleft lip and palate, extra fingers or toes, enlarged liver and spleen, kidney abnormalities, and respiratory difficulties.
Can this test be done during pregnancy?
Yes, prenatal diagnosis is possible through genetic testing, often combined with ultrasound.
What if the test is positive?
A positive result confirms the diagnosis, and genetic counseling is recommended for management and family planning.
Is genetic counseling provided?
Yes, a genetic counseling session is included to discuss results and implications.
Are there any risks?
Risks are minimal, primarily related to blood draw, such as bruising. Psychological support is available for result interpretation.
How accurate is the test?
The test is highly accurate for detecting pathogenic variants in the TCTN2 gene using advanced NGS technology.
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

KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test

₹20,000

CAT Gene Acatalasemia NGS Genetic Test

₹20,000

BLM Gene Bloom syndrome NGS Genetic Test

₹20,000

FANCC Gene Fanconi anemia type C NGS Genetic Test

₹20,000

TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test

₹20,000

PTPN23 Gene Ciliogenesis related disorder 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.