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TMEM138 Gene Joubert syndrome type 16 NGS Genetic Test

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TMEM138 Gene Joubert syndrome type 16 NGS Genetic Test

Short Name: TMEM138 Joubert Syndrome Type 16 NGS Test

Also known as: Joubert Syndrome Type 16 Genetic Test, TMEM138 Gene Analysis, Joubert Syndrome NGS Test

TMEM138 Gene Joubert syndrome type 16 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the TMEM138 gene for the diagnosis of Joubert Syndrome Type 16, aiding in clinical management, genetic counseling, and family risk assessment.

Test Code
1632
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

A clinical history review and genetic counseling session are recommended to assess symptoms and family history, and to draw a pedigree chart if needed.

Method: Venipuncture for blood sample

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture, or alternatively, extracted DNA or a blood drop on FTA card can be used.

Step 3

Report Delivery

The sample is labeled, stored appropriately, and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss benefits, risks, and implications of testing, along with informed consent.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Results interpretation by a geneticist, followed by counseling and potential referral to specialists.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the TMEM138 gene for the diagnosis of Joubert Syndrome Type 16, aiding in clinical management, genetic counseling, and family risk assessment.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection techniques
  • Label samples clearly with patient details
  • Follow transport guidelines for sample stability

Doctor's Notes

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

"Genetic testing for TMEM138 gene is crucial for accurate diagnosis and management of Joubert Syndrome Type 16. Early detection aids in symptomatic treatment and genetic counseling for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood sample

Sample Stability

Blood samples: stable for 7 days at 4°C
Extracted DNA: stable for longer periods as per lab protocol
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated samples
  • Improper labeling or missing patient information

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TMEM138 gene. Genetic counseling is essential to understand implications and next steps.
Normal: No pathogenic variants detected in TMEM138 gene
Abnormal: Pathogenic variant(s) detected, consistent with Joubert Syndrome Type 16
Variant of uncertain significance (VUS): Further testing and clinical correlation recommended
⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms of Joubert Syndrome are present, for family history of the disorder, or to discuss test results and management options.

Limitations

  • ⚠May not detect all genetic variants, such as large deletions or duplications
  • ⚠Cannot identify mosaicism in all cases
  • ⚠Results require clinical correlation and genetic counseling

Risks & Considerations

  • ●Psychological impact of results
  • ●Privacy concerns regarding genetic data
  • ●Minimal physical risk from blood draw

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Insufficient sample volume

Compare With Similar Tests

TestTMEM138 Gene Joubert syndrome type 16 NGS Genetic Test
ComparisonTMEM138 Gene Joubert syndrome type 16 NGS Genetic Test

Frequently Asked Questions

What is Joubert Syndrome?
Joubert Syndrome is a rare genetic disorder affecting brain development, particularly the cerebellum and brainstem, leading to coordination and balance issues, along with other symptoms.
What causes Joubert Syndrome Type 16?
It is caused by mutations in the TMEM138 gene, which disrupts normal brain development and function.
Who should consider the TMEM138 Gene NGS Genetic Test?
Individuals with symptoms such as abnormal breathing, low muscle tone, developmental delays, or a family history of Joubert Syndrome should consider testing.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood sample, detecting mutations in the TMEM138 gene and related genes.
What is the cost of the test?
The TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic Test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results indicate?
Results show whether pathogenic variants in the TMEM138 gene are detected, which can confirm a diagnosis of Joubert Syndrome Type 16.
Are there any risks associated with genetic testing?
Risks are minimal, mainly psychological impact or privacy concerns, but physical risks from blood draw are low.
Can the test detect other genes related to Joubert Syndrome?
Yes, the NGS test can analyze multiple genes associated with Joubert Syndrome, providing comprehensive genetic information.
What should I do before getting tested?
Undergo genetic counseling to understand the test, its implications, and provide informed consent. A clinical history review is also recommended.
How can I interpret the results?
Results should be interpreted by a geneticist or healthcare provider. A genetic counseling session is advised to discuss findings and next steps.
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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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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