TMEM237 Gene Joubert syndrome type 14 NGS Genetic Test
Short Name: TMEM237 JBTS14 NGS Test
Also known as: TMEM237 Gene Sequencing Test, JBTS14 Genetic Test, TMEM237 NGS DNA Test, Joubert Syndrome Type 14 DNA Test, Ciliopathy Genetic Panel - TMEM237
TMEM237 Gene Joubert syndrome type 14 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Targeted Gene Sequencing, Sanger Confirmation (if required) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the TMEM237 Gene Joubert Syndrome Type 14 NGS Genetic Test is to identify pathogenic mutations in the TMEM237 gene that cause Joubert syndrome type 14. This test is used for definitive molecular diagnosis, confirmation of clinical suspicion, carrier testing for family members, recurrence risk assessment, genetic counselling, and informed reproductive planning including prenatal and preimplantation genetic testing options.
- Test Code
- 1642
- CPT Code
- 81404
- ICD Code
- Q04.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Targeted Gene Sequencing, Sanger Confirmation (if required)
Sample Collection
Ensure informed consent is obtained. Complete the clinical history form and draw a pedigree chart of family members affected with Joubert syndrome or related conditions during a genetic counselling session. No fasting is required. Inform the laboratory of any recent blood transfusions.
Method: Venipuncture / Finger Prick (FTA Card)
Laboratory Analysis
A qualified phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer. Alternatively, one drop of blood can be spotted on an FTA card. The sample will be labelled with patient details and stored at ambient room temperature.
Report Delivery
The sample will be transported to the DNA Labs India laboratory under controlled ambient conditions. DNA extraction, library preparation, and NGS sequencing will be performed. Results will be available within 3 to 4 weeks and delivered via online portal, email, and WhatsApp.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the TMEM237 Gene Joubert Syndrome Type 14 NGS Genetic Test is to identify pathogenic mutations in the TMEM237 gene that cause Joubert syndrome type 14. This test is used for definitive molecular diagnosis, confirmation of clinical suspicion, carrier testing for family members, recurrence risk assessment, genetic counselling, and informed reproductive planning including prenatal and preimplantation genetic testing options.
How to Prepare
- Collect 3-5 mL venous blood in an EDTA vacutainer tube
- Alternatively, spot one drop of blood on the provided FTA card
- Label the sample clearly with patient name, date of birth, and unique ID
- Do not freeze the sample; maintain at ambient room temperature (15-30°C)
- Transport the sample to the laboratory within 48 hours of collection
- Ensure the clinical history form and signed consent form accompany the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Joubert syndrome type 14 caused by TMEM237 gene mutations is a ciliopathy that presents with variable neurological features. Early genetic confirmation through NGS testing is critical for accurate diagnosis, appropriate clinical management, recurrence risk counselling, and informed family planning decisions. I recommend this test for any child presenting with hypotonia, abnormal breathing, and the characteristic molar tooth sign on neuroimaging."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper labelling or patient identification
- Haemolysed, clotted, or contaminated blood sample
- Sample collected in incorrect anticoagulant (non-EDTA tube)
- Sample received more than 5 days after collection without prior arrangement
- Incomplete clinical history form or missing signed consent
Understanding Your Results
Pathogenic or Likely Pathogenic (Biallelic)
Confirms a molecular diagnosis of Joubert syndrome type 14 (JBTS14). Two pathogenic or likely pathogenic variants identified in the TMEM237 gene in a trans configuration (autosomal recessive). Supports clinical diagnosis and allows for recurrence risk calculation, carrier testing of family members, and informed reproductive planning including prenatal testing.
Pathogenic (Monoallelic)
One pathogenic variant detected in the TMEM237 gene. The individual is likely an autosomal recessive carrier. Further testing of the second allele or family studies may be recommended. Carrier parents have a 25% recurrence risk for each pregnancy.
Variant of Uncertain Significance (VUS)
A genetic variant was identified whose clinical significance is currently unknown. This result alone neither confirms nor excludes the diagnosis. Correlation with clinical findings, family studies, and periodic re-evaluation as new evidence becomes available is recommended.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the TMEM237 gene. This result reduces the likelihood of JBTS14 but does not exclude Joubert syndrome caused by mutations in other genes. Clinical correlation and consideration of broader genetic panel testing may be warranted.
Consult a clinical geneticist or neurologist if your child presents with persistent hypotonia, abnormal breathing patterns (rapid breathing or apneic episodes), delayed developmental milestones, uncoordinated movements (ataxia), involuntary eye movements (nystagmus), or cognitive impairment. Early referral for genetic evaluation is recommended if brain MRI shows the molar tooth sign. Genetic counselling is strongly advised before and after testing to understand the implications of results for the patient and family members.
Limitations
- ⚠This test targets the TMEM237 gene specifically; mutations in other Joubert syndrome-associated genes will not be detected unless a broader panel is ordered
- ⚠Variants of uncertain significance (VUS) may be identified that cannot be definitively classified as pathogenic or benign at the time of reporting
- ⚠Deep intronic mutations, regulatory region variants, and complex structural rearrangements may not be fully detected
- ⚠Negative results do not completely exclude the possibility of Joubert syndrome if caused by mutations in other genes
- ⚠Results should always be interpreted in the context of clinical findings and family history by a qualified geneticist
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Potential identification of variants of uncertain significance that may cause anxiety
- ●Possible unexpected findings such as carrier status for other genetic conditions
- ●Emotional and psychological impact of receiving a genetic diagnosis; genetic counselling support is provided
Interfering Factors
- ●Degraded or low-quality DNA may affect sequencing coverage and accuracy
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Contamination during sample collection or transport may impact test outcomes
- ●Haemolysed or clotted blood samples may be rejected and require recollection
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Frequently Asked Questions
What is the TMEM237 Gene Joubert Syndrome Type 14 NGS Genetic Test?
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What sample is required for this test?
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Is home sample collection available for this test?
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