PGAP2 Gene Hyperphosphatasia with mental retardation syndrome type 3 NGS Genetic Test
Short Name: PGAP2-HPMRS3 NGS Test
Also known as: PGAP2 Gene Mutation Test, Hyperphosphatasia with Mental Retardation Syndrome Type 3 Genetic Test, HPMRS3 NGS Panel
PGAP2 Gene Hyperphosphatasia with mental retardation syndrome type 3 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 the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to identify mutations in the PGAP2 gene that cause Hyperphosphatasia with Mental Retardation Syndrome Type 3. This test is indicated for individuals presenting with clinical features suggestive of the disorder, for confirmation of diagnosis, and for carrier testing in at-risk family members. It also aids in genetic counseling and reproductive planning.
- Test Code
- 5794
- 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 the sample is received at the laboratory.
- 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 implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is needed. The sample will be sent to the laboratory for analysis.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify mutations in the PGAP2 gene that cause Hyperphosphatasia with Mental Retardation Syndrome Type 3. This test is indicated for individuals presenting with clinical features suggestive of the disorder, for confirmation of diagnosis, and for carrier testing in at-risk family members. It also aids in genetic counseling and reproductive planning.
How to Prepare
- Ensure the patient's identity is verified.
- Use sterile EDTA tube for blood collection.
- For FTA card, apply one drop of blood onto the designated circle.
- Label the sample with patient's name and date of birth.
- Transport the sample at room temperature to the laboratory.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic confirmation of PGAP2-HPMRS3 is crucial for guiding management and family counseling. This NGS test provides a definitive diagnosis, enabling timely intervention and support."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged delay without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of PGAP2-HPMRS3. Genetic counseling is recommended for the family.
Likely pathogenic variant detected
Highly suggestive of the disorder; further confirmation may be needed.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing of family members may help.
No pathogenic variant detected
No mutation found in PGAP2 gene; other genetic causes should be considered.
If your child exhibits developmental delays, seizures, or unusual facial features, consult a pediatrician or geneticist. Early referral for genetic testing can provide a definitive diagnosis and guide management.
Limitations
- ⚠This test detects mutations in the PGAP2 gene only; other genes causing similar phenotypes are not analyzed.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Large genomic rearrangements may not be detected by this NGS method.
- ⚠Test results should be interpreted in conjunction with clinical findings.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS)
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 | PGAP2 Gene Hyperphosphatasia with mental retardation syndrome type 3 NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Targeted PGAP2 Sanger Sequencing |
|---|---|---|---|---|
| Comparison | PGAP2 Gene Hyperphosphatasia with mental retardation syndrome type 3 NGS Genetic Test | WES analyzes all coding regions of the genome, whereas this test focuses only on the PGAP2 gene. WES may identify mutations in other genes but is more expensive and time-consuming. | CMA detects copy number variations but does not detect single nucleotide variants in PGAP2. This NGS test is more specific for point mutations. | Sanger sequencing is used for known familial mutations, while NGS can detect novel mutations across the entire gene. |
Frequently Asked Questions
What is PGAP2-HPMRS3?
How is the PGAP2 gene test performed?
What is the cost of the PGAP2 gene test?
How long does it take to get results?
Is fasting required before the test?
What sample is needed?
Can the test be done at home?
Who should consider this test?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Is the test covered by insurance?
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₹20,000Reference Laboratory Services
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