PGAP3 Gene Hyperphosphatasia with mental retardation syndrome type 4 NGS Genetic Test
Short Name: PGAP3 NGS Test
Also known as: Mabry Syndrome, Hyperphosphatasia with Mental Retardation Syndrome 4, PGAP3-Related HPMRS
PGAP3 Gene Hyperphosphatasia with mental retardation syndrome type 4 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 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 PGAP3-HPMRS4 by identifying pathogenic variants in the PGAP3 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation. NGS technology allows simultaneous analysis of multiple genes if needed, but this test specifically targets the PGAP3 gene.
- Test Code
- 5791
- 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 delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the purpose, risks, and benefits. Please bring any relevant medical records or family history.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick blood spot is collected. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately. The sample will be transported to the laboratory for analysis.
Timeline: Reports are typically 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 PGAP3-HPMRS4 by identifying pathogenic variants in the PGAP3 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation. NGS technology allows simultaneous analysis of multiple genes if needed, but this test specifically targets the PGAP3 gene.
How to Prepare
- Ensure the sample is labeled correctly with patient details.
- For blood sample, use EDTA tube and mix gently.
- For FTA card, apply blood spots and allow to air dry completely.
- Transport samples at ambient temperature to the laboratory.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of PGAP3-HPMRS4 is crucial for appropriate management and family counseling. NGS-based testing provides a comprehensive analysis of the PGAP3 gene, aiding in accurate diagnosis."
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 PGAP3-HPMRS4. Genetic counseling and family testing recommended.
Variant of uncertain significance (VUS)
Further testing or family segregation analysis may be needed to clarify significance.
No pathogenic variant detected
Does not rule out PGAP3-HPMRS4 if clinical suspicion is high; consider other genetic causes.
Consult a clinical geneticist or pediatric neurologist if your child shows developmental delay, seizures, or characteristic facial features. Genetic counseling is advised before and after testing.
Limitations
- ⚠This test detects mutations in the PGAP3 gene only; other genes causing similar phenotypes are not analyzed.
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants; additional testing may be required if clinical suspicion is high.
- ⚠Genetic counseling is recommended to interpret results and discuss implications.
Risks & Considerations
- ●Minimal risk of bruising or infection at blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings (unlikely with targeted test)
Interfering Factors
- ●Inadequate sample quantity or poor DNA quality
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute DNA)
- ●Bone marrow transplantation (may affect results)
Compare With Similar Tests
| Test | PGAP3 Gene Hyperphosphatasia with mental retardation syndrome type 4 NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted PGAP3 Sanger Sequencing | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | PGAP3 Gene Hyperphosphatasia with mental retardation syndrome type 4 NGS Genetic Test | WES analyzes all coding regions of genes, while this test focuses only on PGAP3. WES is more comprehensive but costlier and may identify incidental findings. | Sanger sequencing is used for known familial mutations, but NGS is preferred for initial diagnosis as it can detect novel variants. | CMA detects copy number variations but does not detect single nucleotide variants in PGAP3. |
Frequently Asked Questions
What is PGAP3-HPMRS4?
How is this test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required?
Can this test be done on children?
What does a positive result mean?
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