PIGV Gene Hyperphosphatasia with mental retardation syndrome type 1 NGS Genetic Test
Short Name: PIGV NGS Test
Also known as: Mabry Syndrome, PIGV-related GPI biosynthesis defect, Hyperphosphatasia with intellectual disability syndrome 1
PIGV Gene Hyperphosphatasia with mental retardation 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 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 identify pathogenic mutations in the PIGV gene that cause Hyperphosphatasia with Mental Retardation Syndrome Type 1. It is used to confirm a clinical diagnosis, differentiate from other similar conditions, and provide information for genetic counseling and recurrence risk assessment.
- Test Code
- 5786
- 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 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 before the test to discuss the 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 drop of blood is placed on the card and allowed to dry.
Report Delivery
No specific precautions. 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 identify pathogenic mutations in the PIGV gene that cause Hyperphosphatasia with Mental Retardation Syndrome Type 1. It is used to confirm a clinical diagnosis, differentiate from other similar conditions, and provide information for genetic counseling and recurrence risk assessment.
How to Prepare
- Ensure the patient's identity is verified
- Use EDTA vacutainer for blood collection
- For FTA card, apply one drop of blood to each circle and air dry
- Label the sample with patient's name and unique ID
- Transport at room temperature within 24 hours
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of PIGV-related disorders is crucial for management and family counseling. This NGS test provides comprehensive analysis of the PIGV gene."
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 time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of HPMRS1. Genetic counseling recommended for family.
Variant of uncertain significance (VUS)
Further testing of family members may be needed to clarify significance.
No pathogenic variant detected
Does not rule out HPMRS1; consider testing other genes or alternative diagnoses.
Consult a clinical geneticist or pediatric neurologist if the child has developmental delay, seizures, or dysmorphic features. Also, if there is a family history of HPMRS1, genetic counseling is advised.
Limitations
- ⚠This test detects mutations in the PIGV gene only; other genes causing similar phenotypes are not analyzed
- ⚠Large deletions/duplications may not be detected by standard NGS
- ⚠Variant interpretation may require additional familial testing
- ⚠Negative result does not exclude a diagnosis if clinical suspicion is high
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Contamination of sample during collection
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Genetic variants of unknown significance (VUS) may require further analysis
Compare With Similar Tests
| Test | PIGV Gene Hyperphosphatasia with mental retardation syndrome type 1 NGS Genetic Test | Whole Exome Sequencing (WES) | GPI Anchor Deficiency Panel | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | PIGV Gene Hyperphosphatasia with mental retardation syndrome type 1 NGS Genetic Test | WES analyzes all coding regions of genes, while this test focuses on PIGV gene only. WES is more comprehensive but costlier. | This panel includes multiple genes involved in GPI anchor synthesis, including PIGV. It may be preferred if clinical suspicion is broad. | CMA detects copy number variations but does not detect single nucleotide variants in PIGV. |
Frequently Asked Questions
What is the cost of the PIGV gene NGS test at DNA Labs India?
What is Hyperphosphatasia with Mental Retardation Syndrome Type 1?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the report?
Is home sample collection available?
Will this test detect all mutations in the PIGV gene?
Can this test be done for prenatal diagnosis?
What does a negative result mean?
Is genetic counseling included in the test price?
What is the CPT code for this test?
Which cities are covered for home sample collection?
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