PIGN Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 1 NGS Genetic Test
Short Name: PIGN Gene NGS Test
Also known as: PIGN Gene Sequencing, MCAHS1 Genetic Test, PIGN Mutation Analysis
PIGN Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 1 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 delivered within 3 to 4 weeks after sample receipt.. 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 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 by identifying pathogenic mutations in the PIGN gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in subsequent pregnancies. Genetic confirmation helps in prognosis, management planning, and providing accurate recurrence risk counseling.
- Test Code
- 5859
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended to discuss the test implications and obtain informed consent.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using sterile technique. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific aftercare needed. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 by identifying pathogenic mutations in the PIGN gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in subsequent pregnancies. Genetic confirmation helps in prognosis, management planning, and providing accurate recurrence risk counseling.
How to Prepare
- Ensure the patient's identity is verified
- Use EDTA vacutainer for blood collection
- If using FTA card, label properly and air-dry
- Transport samples to the lab within 24-48 hours
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of PIGN-related syndrome is crucial for management and family counseling. NGS provides a comprehensive approach to identify pathogenic variants."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of MCAHS1. Autosomal recessive inheritance. Genetic counseling recommended.
Likely pathogenic variant detected
Highly suggestive of disease. Further family studies may be needed.
Variant of uncertain significance (VUS)
Cannot be definitively classified. Additional testing of family members may help.
No pathogenic variant detected
Does not rule out MCAHS1. Consider other genetic causes or re-evaluation.
Consult a clinical geneticist or pediatric neurologist if the child presents with hypotonia, seizures, multiple congenital anomalies, or developmental delay. Genetic counseling is essential before and after testing.
Limitations
- ⚠NGS may not detect deep intronic variants or large structural rearrangements
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Test does not assess other genes associated with similar phenotypes unless panel is used
- ⚠Prenatal testing requires prior confirmation of familial mutation
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
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of large deletions/duplications not detected by standard NGS (may require MLPA)
- ●Mosaic variants may be missed
Compare With Similar Tests
| Test | PIGN Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 1 NGS Genetic Test | Whole Exome Sequencing (WES) | PIGN Gene Targeted Mutation Analysis | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | PIGN Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 1 NGS Genetic Test | WES covers all coding regions of the genome, while this test focuses only on the PIGN gene. WES is more comprehensive but costlier and may have longer turnaround time. | Targeted analysis screens for known mutations, whereas NGS sequencing detects novel variants. NGS is preferred for comprehensive diagnosis. | CMA detects copy number variations but does not detect point mutations. NGS is necessary for single-gene disorders. |
Frequently Asked Questions
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₹20,000Reference Laboratory Services
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