TRIM37 Gene Mulibrey nanism NGS Genetic Test
Short Name: TRIM37 NGS
Also known as: Mulibrey Nanism Genetic Test, TRIM37 Gene Sequencing
TRIM37 Gene Mulibrey nanism 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify disease-causing mutations in the TRIM37 gene to confirm a diagnosis of Mulibrey nanism in individuals presenting with characteristic clinical features. It also aids in carrier detection for at-risk family members and provides essential information for genetic counseling and reproductive planning.
- Test Code
- 5856
- CPT Code
- 81406
- ICD Code
- Q87.1
- 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)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using sterile techniques. For FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No specific precautions. The sample is transported to the laboratory at ambient temperature.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify disease-causing mutations in the TRIM37 gene to confirm a diagnosis of Mulibrey nanism in individuals presenting with characteristic clinical features. It also aids in carrier detection for at-risk family members and provides essential information for genetic counseling and reproductive planning.
How to Prepare
- Ensure patient identity verification
- Use EDTA vacutainer for blood collection
- For FTA card, apply blood drop and air dry for 30 minutes
- Label sample with patient details and date
- Transport at room temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Mulibrey nanism is a rare autosomal recessive disorder. Early genetic confirmation is crucial for managing growth, cardiac, and hepatic complications. This NGS test provides a definitive diagnosis, enabling timely intervention and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time (>7 days)
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of Mulibrey nanism. Genetic counseling and family screening recommended.
Negative (No pathogenic variant detected)
Does not rule out Mulibrey nanism if clinical suspicion is high. Consider other genetic causes or large deletion analysis.
Variant of Uncertain Significance (VUS)
Cannot be classified as pathogenic or benign. Further testing of family members may help clarify.
Consult a clinical geneticist or pediatrician if the child shows growth retardation, characteristic facial features, or unexplained liver/cardiac issues. Genetic testing is recommended for early diagnosis and management.
Limitations
- ⚠This test does not detect large genomic rearrangements (deletions/duplications) unless specifically requested
- ⚠Variants in non-coding regulatory regions may not be covered
- ⚠Results should be interpreted in the context of clinical findings
- ⚠Genetic counseling is recommended for result interpretation
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of large deletions/duplications not detected by standard NGS
- ●Mosaic variants may be missed
Compare With Similar Tests
| Test | TRIM37 Gene Mulibrey nanism NGS Genetic Test | Whole Exome Sequencing | Sanger Sequencing |
|---|---|---|---|
| Comparison | TRIM37 Gene Mulibrey nanism NGS Genetic Test | WES covers all coding regions of genes, including TRIM37, but is more expensive and time-consuming. Targeted NGS is cost-effective for specific gene analysis. | Sanger sequencing is used for targeted variant confirmation but is less efficient for full gene analysis compared to NGS. |
Frequently Asked Questions
What is Mulibrey nanism?
How is the TRIM37 gene test performed?
What is the cost of the TRIM37 gene test in India?
Is fasting required before the test?
How long does it take to get the results?
What sample is needed for the test?
Can the test be done at home?
What does a positive test result mean?
What if the test result is negative?
Is genetic counseling included?
Will my insurance cover the cost?
Are raw data files provided?
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₹20,000Reference 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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✓ 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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