PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 NGS Genetic Test
Short Name: PCNT NGS Test
Also known as: MOPD2 Genetic Test, PCNT Gene Sequencing, Primordial Dwarfism Type 2 NGS Panel
PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 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 Reports are typically available within 3 to 4 weeks after the sample reaches 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 this NGS genetic test is to confirm a clinical diagnosis of Microcephalic osteodysplastic primordial dwarfism type 2 by detecting pathogenic mutations in the PCNT gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation. Early and accurate genetic diagnosis enables timely intervention, appropriate medical surveillance, and informed reproductive decisions.
- Test Code
- 5845
- CPT Code
- 81407
- ICD Code
- Q87.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test. Please bring any relevant medical records and family history information.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately. The sample will be sent to the laboratory for analysis.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of Microcephalic osteodysplastic primordial dwarfism type 2 by detecting pathogenic mutations in the PCNT gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation. Early and accurate genetic diagnosis enables timely intervention, appropriate medical surveillance, and informed reproductive decisions.
How to Prepare
- Ensure the patient's identity is verified with a valid ID
- Use EDTA vacutainer for blood collection; mix gently
- For FTA card, apply one drop of blood onto the designated circle and let it air dry
- Label the sample with patient name, date, and unique ID
- Transport at ambient temperature; avoid extreme heat or freezing
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic confirmation of MOPD2 is crucial for appropriate management and family counseling. This NGS test provides a definitive diagnosis, enabling proactive care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing patient information
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of MOPD2. Genetic counseling is recommended for family members.
Likely pathogenic variant detected
Highly suggestive of MOPD2; further confirmation may be needed.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity; additional testing or family studies may be required.
No pathogenic variant detected
Does not rule out MOPD2; consider other genetic causes or re-evaluation.
Consult a clinical geneticist or pediatrician if your child exhibits severe growth delay, microcephaly, or skeletal abnormalities. Genetic testing is recommended for early diagnosis and management.
Limitations
- ⚠This test does not detect all types of mutations (e.g., large deletions, deep intronic variants)
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Negative result does not rule out MOPD2 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
- ●Fainting or dizziness during blood collection (rare)
- ●Psychological impact of genetic results
Interfering Factors
- ●Contamination of sample with maternal cells in prenatal samples
- ●Incomplete gene coverage due to technical limitations
- ●Presence of large deletions/duplications not detected by standard NGS
- ●Low DNA quality or quantity
Compare With Similar Tests
| Test | PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Targeted Mutation Analysis |
|---|---|---|---|---|
| Comparison | PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the PCNT gene NGS test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done at home?
What does the test detect?
Will I get raw data files?
Is genetic counseling included?
Who should take this test?
Is the test NABL accredited?
Can this test be used for prenatal diagnosis?
What is the turnaround time for reports?
Related Tests
MSX2 Gene Craniosynostosis type 2 NGS Genetic Test
₹20,000EVC2 Gene Ellis-van Creveld syndrome NGS Genetic Test
₹20,000FGFR2 Gene Saethre-Chotzen syndrome NGS Genetic Test
₹20,000TSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome NGS Genetic Test
₹20,000ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test
₹20,000PTH1R Gene Chondrodysplasia, Blomstrand type 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.