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TMEM216 Gene Joubert syndrome type 2 NGS Genetic Test

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TMEM216 Gene Joubert syndrome type 2 NGS Genetic Test

Short Name: TMEM216 Joubert Syndrome NGS Test

Also known as: Joubert syndrome type 2, JBTS2, TMEM216-related Joubert syndrome

TMEM216 Gene Joubert syndrome type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (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 TestAll ages, with focus on pediatric and early childhood🏠 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 the TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic Test is to accurately detect pathogenic mutations in the TMEM216 gene, confirming a diagnosis of Joubert Syndrome Type 2. This test aids in differential diagnosis, guides clinical management, informs family planning through carrier testing, and supports genetic counseling for affected individuals and their families.

Test Code
1644
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) Technology
Step 1

Sample Collection

A genetic counseling session is recommended to discuss family history, draw a pedigree chart, and understand the implications of testing. Provide clinical history of the patient, including symptoms and any previous genetic tests.

Method: Venipuncture or Fingerprick

Step 2

Laboratory Analysis

Sample collection involves a simple blood draw (venipuncture) or a fingerprick for one drop of blood on an FTA card. The process is quick and minimally invasive, performed by trained phlebotomists.

Step 3

Report Delivery

The sample is labeled, stored at ambient room temperature, and transported to the lab for DNA extraction and NGS analysis. Patients are informed about report delivery timelines and access to results.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session, provide complete medical and family history, and ensure the patient is medically stable for sample collection.
2
During the Test:The sample is processed in the lab using NGS technology; the patient experience is limited to sample collection only.
3
After the Test:Await results for 3-4 weeks; access reports online. Discuss findings with a geneticist and consider family testing if indicated.

About This Test

Who Should Get This Test

The purpose of the TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic Test is to accurately detect pathogenic mutations in the TMEM216 gene, confirming a diagnosis of Joubert Syndrome Type 2. This test aids in differential diagnosis, guides clinical management, informs family planning through carrier testing, and supports genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • Use sterile collection equipment to avoid contamination
  • For blood samples, collect in EDTA tubes and mix gently
  • For FTA cards, allow blood to dry completely before packaging
  • Maintain sample at ambient temperature during transport

Doctor's Notes

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

"This NGS test is critical for confirming Joubert Syndrome diagnosis, enabling early intervention and family genetic counseling."

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 (for venipuncture)
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Fingerprick

Sample Stability

Sample Rejection Criteria:
  • Insufficient sample volume or quality
  • Incorrect sample container or labeling
  • Visible contamination or hemolysis
  • Sample received without proper documentation or consent

Understanding Your Results

Interpretation of the TMEM216 Gene NGS test results should be done by a qualified geneticist or genetic counselor in the context of the patient's clinical presentation and family history.
A positive result indicating pathogenic variants confirms diagnosis of Joubert Syndrome Type 2 and guides management
A negative result does not fully rule out Joubert Syndrome; consider testing other genes
Variants of Uncertain Significance (VUS) require further family studies or functional analysis
Carrier status identification is crucial for genetic counseling and family planning
Raw data files (FASTQ and VCF) provided can be used for additional analysis or verification
⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist immediately if test results are positive for mutations, or if symptoms persist despite negative results. Genetic counseling is recommended for all families to understand risks, management options, and reproductive choices.

Limitations

  • ⚠This test may not detect all types of genetic variants, such as deep intronic mutations or large structural rearrangements not covered by NGS
  • ⚠Results require correlation with clinical findings and genetic counseling
  • ⚠Test does not rule out mutations in other genes associated with Joubert Syndrome
  • ⚠Turnaround time is 3-4 weeks; urgent cases need alternative arrangements

Risks & Considerations

  • ●Minimal physical risks from blood collection, such as bruising or discomfort
  • ●Psychological impact of positive results, including anxiety or family stress
  • ●Potential for inconclusive results leading to further testing or uncertainty

Interfering Factors

  • ●Degraded or insufficient DNA sample quality
  • ●Contamination during sample collection or processing
  • ●Presence of hemolysis or lipidemia in blood samples
  • ●Recent blood transfusions may affect DNA analysis

Compare With Similar Tests

TestTMEM216 Gene Joubert syndrome type 2 NGS Genetic TestAHI1 Gene Joubert Syndrome NGS TestCEP290 Gene Joubert Syndrome TestJoubert Syndrome Multi-Gene PanelWhole Exome Sequencing (WES)Traditional Sanger Sequencing
ComparisonTMEM216 Gene Joubert syndrome type 2 NGS Genetic TestFocuses on a different gene; may be part of a comprehensive panelAnother common gene; often included in multi-gene panelsTests multiple genes simultaneously for broader detectionBroader analysis but higher cost and longer turnaround; for complex casesLess sensitive for detecting mosaicism or multiple variants; NGS is more comprehensive

Frequently Asked Questions

What is the TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the TMEM216 gene to detect mutations causing Joubert Syndrome Type 2, a rare brain disorder.
How much does the TMEM216 Gene test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection across India.
What are the symptoms of Joubert Syndrome?
Symptoms include abnormal breathing patterns, developmental delays, low muscle tone, coordination problems, abnormal eye movements, kidney issues, and seizures.
How is the test performed?
A blood sample or extracted DNA is analyzed using NGS technology to identify variants in the TMEM216 gene.
What sample types are accepted?
Blood in EDTA tube, 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.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates pathogenic mutations in TMEM216, confirming Joubert Syndrome Type 2 diagnosis and guiding management.
Is home sample collection available?
Yes, DNA Labs India offers free home collection for online bookings in many cities across India.
Can this test detect all cases of Joubert Syndrome?
No, it focuses on TMEM216 gene; other genes may be involved, so a negative result does not rule out Joubert Syndrome entirely.
Do I need genetic counseling before testing?
Yes, genetic counseling is recommended to understand the test implications, family risks, and to draw a pedigree chart.
Will insurance cover the test cost?
Coverage varies; this test is generally not covered by insurance schemes like PMJAY or CGHS, but check with your provider.
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.

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