ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic Test
Short Name: ZMPSTE24 Gene Test
Also known as: MAD Type B Lipodystrophy Genetic Test, ZMPSTE24 Sequencing Test
ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the ZMPSTE24 gene to confirm a diagnosis of mandibuloacral dysplasia with type B lipodystrophy, facilitate genetic counseling, and guide clinical management for affected individuals and their families.
- Test Code
- 2437
- 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 specific preparation is required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture
Laboratory Analysis
A standard blood draw will be performed by a trained phlebotomist. For FTA card collection, a single drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless otherwise advised.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the ZMPSTE24 gene to confirm a diagnosis of mandibuloacral dysplasia with type B lipodystrophy, facilitate genetic counseling, and guide clinical management for affected individuals and their families.
How to Prepare
- Ensure proper identification and labeling of samples
- Use sterile collection tubes and follow aseptic techniques
- Transport samples at ambient temperature as per guidelines
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for ZMPSTE24 mutations is crucial for timely intervention and management of mandibuloacral dysplasia with type B lipodystrophy, especially in families with a history of the disorder."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or documentation
Understanding Your Results
Consult a geneticist or specialist if symptoms suggestive of mandibuloacral dysplasia are present, or if family history indicates risk. After testing, discuss results with a healthcare provider for appropriate management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Variants of uncertain significance (VUS) may be identified, requiring further evaluation
- ⚠Does not rule out other genetic causes of similar symptoms
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results, addressed through counseling
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic Test | LMNA Gene Test for Mandibuloacral Dysplasia | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic Test |
Frequently Asked Questions
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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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