PIGA Gene Early infantile epileptic encephalopathy type 20 NGS Genetic Test
Short Name: PIGA Gene EIEE20 Genetic Test
Also known as: PIGA gene mutation test, EIEE type 20 genetic test, PIGA-related epileptic encephalopathy test
PIGA Gene Early infantile epileptic encephalopathy type 20 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 3-4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the PIGA gene for the diagnosis of early infantile epileptic encephalopathy type 20, enabling timely medical intervention and genetic counseling.
- Test Code
- 1594
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with PIGA gene early infantile epileptic encephalopathy type 20 are required.
Method: Venipuncture
Laboratory Analysis
Standard blood draw via venipuncture or blood drop on FTA card collection following sterile procedures.
Report Delivery
Sample is processed for DNA extraction and sent for NGS analysis. Report is generated and delivered within 3-4 weeks.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the PIGA gene for the diagnosis of early infantile epileptic encephalopathy type 20, enabling timely medical intervention and genetic counseling.
How to Prepare
- Provide detailed clinical history of the patient
- Complete genetic counseling session for pedigree chart
- Ensure proper labeling of sample with patient details
- Use appropriate collection container (EDTA tube or FTA card)
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic diagnosis of PIGA gene mutations is crucial for managing epileptic encephalopathies and guiding family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrectly labeled or unlabeled sample
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of EIEE20; genetic counseling and targeted management recommended.
Variant of uncertain significance (VUS)
Further testing or family studies may be required; clinical follow-up advised.
No pathogenic variants detected
Reduced likelihood of EIEE20; consider other genetic or non-genetic causes of symptoms.
Consult a healthcare provider if an infant exhibits seizures, developmental delays, or other symptoms of epileptic encephalopathy, or if there is a family history of such conditions.
Limitations
- ⚠Detection is limited to known pathogenic mutations in the PIGA gene
- ⚠Cannot identify all genetic causes of epileptic encephalopathy
- ⚠Variant of uncertain significance (VUS) may be reported
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection at puncture site
- ●No significant genetic risks from the test itself
Interfering Factors
- ●DNA degradation due to improper sample storage
- ●Contamination of DNA sample
- ●Low DNA yield from sample
Compare With Similar Tests
| Test | PIGA Gene Early infantile epileptic encephalopathy type 20 NGS Genetic Test | SCN1A Gene Test | CDKL5 Gene Test | Whole Exome Sequencing | Metabolic Screening Tests |
|---|---|---|---|---|---|
| Comparison | PIGA Gene Early infantile epileptic encephalopathy type 20 NGS Genetic Test | Targets Dravet Syndrome; different gene mutation involved. | For CDKL5 deficiency disorder; similar symptoms but distinct genetic basis. | Broader analysis of all genes; higher cost but may detect additional mutations. | Checks for metabolic disorders; not specific to genetic mutations like PIGA. |
Frequently Asked Questions
What is the PIGA Gene Early Infantile Epileptic Encephalopathy Type 20 NGS Genetic Test?
What are the common symptoms of EIEE type 20?
How is this genetic test performed?
What is the cost of the PIGA Gene EIEE20 test in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What if a mutation is found in the PIGA gene?
Is genetic counseling required before the test?
Can females be affected by EIEE type 20?
What treatments are available for EIEE type 20?
Is the test covered by insurance schemes like PMJAY or CGHS?
How do I book the PIGA Gene EIEE20 genetic test?
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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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