PIGO Gene Hyperphosphatasia with mental retardation syndrome type 2 NGS Genetic Test
Short Name: PIGO NGS Test
Also known as: PIGO Gene Sequencing, GPI Anchor Deficiency Test, HPMRS2 Genetic Test
PIGO Gene Hyperphosphatasia with mental retardation syndrome type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of HPMRS2 by identifying disease-causing mutations in the PIGO gene. It also helps in carrier testing for at-risk family members and provides information for genetic counseling and reproductive planning.
- Test Code
- 5788
- CPT Code
- 81407
- ICD Code
- E83.39
- 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), Sanger sequencing for variant confirmation
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory at ambient temperature.
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 test is to confirm a clinical diagnosis of HPMRS2 by identifying disease-causing mutations in the PIGO gene. It also helps in carrier testing for at-risk family members and provides information for genetic counseling and reproductive planning.
How to Prepare
- Ensure the patient's identity is verified
- Use sterile equipment for blood collection
- Label the sample tube/card with patient details
- For FTA card, allow blood spots to dry completely before packaging
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for PIGO gene mutations is crucial for early diagnosis and management of HPMRS2. NGS provides comprehensive analysis with high accuracy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of HPMRS2. Genetic counseling recommended for family members.
Likely pathogenic variant detected
High likelihood of disease; further testing may be needed to confirm.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity. Additional family studies may be helpful.
No pathogenic variant detected
Does not rule out HPMRS2; consider other genetic causes or re-evaluation.
Consult a clinical geneticist or pediatric neurologist if the child shows developmental delay, seizures, or dysmorphic features. Genetic testing is recommended to establish a diagnosis and guide management.
Limitations
- ⚠This test does not detect all possible mutations (e.g., deep intronic variants, large rearrangements)
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Negative result does not completely rule out HPMRS2 if clinical suspicion is high
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
Interfering Factors
- ●Poor quality DNA sample
- ●Contamination during sample collection
- ●Incomplete clinical information
- ●Presence of large deletions/duplications not detected by standard NGS
Compare With Similar Tests
| Test | PIGO Gene Hyperphosphatasia with mental retardation syndrome type 2 NGS Genetic Test | Whole Exome Sequencing (WES) | GPI Anchor Deficiency Panel | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | PIGO Gene Hyperphosphatasia with mental retardation syndrome type 2 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the PIGO gene NGS genetic test at DNA Labs India?
What is the sample requirement for this test?
How long does it take to get the test results?
Is fasting required before the test?
What does the NGS genetic test detect?
Will I receive raw data files with the report?
Is genetic counseling included in the test?
Can this test be done for children?
What is the turnaround time for the test?
Is home sample collection available?
What is the accuracy of NGS testing for PIGO gene?
What should I do if the test result is positive?
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