POLD1 Gene Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NGS Genetic Test
Short Name: POLD1 MDPL NGS Test
Also known as: MDPL Syndrome Genetic Test, POLD1 Gene Sequencing, Mandibular Hypoplasia Deafness Progeroid Lipodystrophy NGS
POLD1 Gene Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.. 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 confirm a clinical diagnosis of Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) by identifying pathogenic mutations in the POLD1 gene. It is also used for predictive testing in asymptomatic family members when a familial mutation is known, and for reproductive planning. The test aids in differentiating MDPL from other progeroid or lipodystrophy syndromes, enabling tailored management and surveillance.
- Test Code
- 5828
- CPT Code
- 81407
- ICD Code
- E88.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger confirmation
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss implications. Please provide clinical history and family pedigree.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) by identifying pathogenic mutations in the POLD1 gene. It is also used for predictive testing in asymptomatic family members when a familial mutation is known, and for reproductive planning. The test aids in differentiating MDPL from other progeroid or lipodystrophy syndromes, enabling tailored management and surveillance.
How to Prepare
- For blood: Use EDTA vacutainer, fill to indicated mark, mix gently.
- For FTA card: Apply one drop of blood onto the designated circle, air dry for 30 minutes.
- Label the sample with patient name, date, and unique ID.
- Transport at ambient temperature within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic confirmation is essential for MDPL syndrome to guide management and family counseling. NGS provides comprehensive analysis of the POLD1 gene."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of MDPL syndrome; autosomal dominant inheritance; genetic counseling recommended for family members.
Likely pathogenic variant detected
Highly suggestive of MDPL; further familial testing may be needed to confirm pathogenicity.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity; additional testing of family members or functional studies may be required.
No pathogenic variant detected
Does not confirm MDPL; consider other genetic causes or re-evaluation of clinical diagnosis.
Consult a clinical geneticist or your referring physician if you have symptoms suggestive of MDPL, if you have a family history of the condition, or if you are planning a pregnancy and are a known carrier. Also, seek medical advice if you receive a positive or uncertain result to discuss management and surveillance.
Limitations
- ⚠This test does not detect large genomic rearrangements or deep intronic variants
- ⚠Variants of uncertain significance (VUS) may require further familial segregation analysis
- ⚠Negative result does not completely rule out MDPL if clinical suspicion is high; other genes may be involved
- ⚠Test is not intended for prenatal diagnosis without prior genetic counseling
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for finding variants of uncertain significance
- ●Risk of incidental findings (unrelated to MDPL)
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Poor DNA quality or quantity
- ●Presence of large deletions/duplications not detected by standard NGS
- ●Mosaic mutations may be missed
- ●Incorrect sample labeling
Compare With Similar Tests
| Test | POLD1 Gene Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted POLD1 Sanger Sequencing | Multigene Lipodystrophy Panel |
|---|---|---|---|---|
| Comparison | POLD1 Gene Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NGS Genetic Test | WES analyzes all coding regions of the genome, while this test focuses only on the POLD1 gene. WES is more comprehensive but costlier and may identify incidental findings. | Sanger sequencing is used for known familial mutations or single exon analysis. NGS is preferred for full gene sequencing due to higher throughput and sensitivity. | This panel includes multiple genes associated with lipodystrophy syndromes, including POLD1. It may be more appropriate if the clinical presentation is not classic for MDPL. |
Frequently Asked Questions
What is MDPL syndrome?
How is the POLD1 gene test performed?
What is the cost of the test?
Do I need to fast before the test?
How long does it take to get results?
What does a positive result mean?
Can this test be done on children?
Is home sample collection available?
Will I receive raw data files?
What is the sample type required?
Are there any risks associated with the test?
Can this test be used for prenatal diagnosis?
Related Tests
KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test
₹20,000CAT Gene Acatalasemia NGS Genetic Test
₹20,000BLM Gene Bloom syndrome NGS Genetic Test
₹20,000FANCC Gene Fanconi anemia type C NGS Genetic Test
₹20,000TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test
₹20,000PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test
₹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.
Your Data Privacy
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.