PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test
Short Name: PIK3R2 MPPH NGS Test
Also known as: PIK3R2 Gene Sequencing, MPPH Syndrome Genetic Test, PIK3R2 Mutation Analysis
PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 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 delivered 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 MPPH syndrome by identifying pathogenic mutations in the PIK3R2 gene. It is also used for carrier testing, prenatal diagnosis in at-risk pregnancies, and to differentiate MPPH from other overlapping syndromes such as PI3K-related overgrowth spectrum disorders. Genetic testing helps in providing accurate recurrence risk, guiding medical management, and enabling early intervention for developmental delays and seizures.
- Test Code
- 5839
- CPT Code
- 81407
- ICD Code
- Q04.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered 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 FTA card spot
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using sterile technique. For FTA card, a few drops of blood are spotted 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 delivered 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 MPPH syndrome by identifying pathogenic mutations in the PIK3R2 gene. It is also used for carrier testing, prenatal diagnosis in at-risk pregnancies, and to differentiate MPPH from other overlapping syndromes such as PI3K-related overgrowth spectrum disorders. Genetic testing helps in providing accurate recurrence risk, guiding medical management, and enabling early intervention for developmental delays and seizures.
How to Prepare
- Ensure the patient's identity is verified with two identifiers
- Use EDTA vacutainer for blood collection
- For FTA card, apply blood drops evenly and let dry completely
- Label the sample with patient name, date, and unique ID
- Transport the sample to the lab within 24-48 hours
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of MPPH syndrome is crucial for appropriate management and family planning. This NGS test provides comprehensive analysis of the PIK3R2 gene with high accuracy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing requisition form
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive (Pathogenic/Likely Pathogenic variant)
Confirms diagnosis of MPPH syndrome. Genetic counseling and family testing recommended.
Negative (No pathogenic variant)
Does not confirm MPPH. Consider other genetic tests or re-evaluation of clinical findings.
Variant of Uncertain Significance (VUS)
Insufficient evidence to determine pathogenicity. Additional family studies or functional assays may be needed.
Consult a geneticist or pediatric neurologist if the test result is positive or if you have concerns about your child's development, head size, or seizures. Genetic counseling is recommended for all families undergoing this test.
Limitations
- ⚠This test does not detect large genomic rearrangements or deep intronic variants
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Negative result does not rule out other genetic causes of MPPH-like phenotype
- ⚠Test is not intended for pharmacogenetic or carrier screening purposes
Risks & Considerations
- ●No significant physical risks associated with blood draw
- ●Possible bruising or infection at the puncture site (rare)
- ●Psychological impact of receiving genetic results
- ●Potential for incidental findings (unrelated to the test)
Interfering Factors
- ●Contamination of sample with maternal cells in prenatal samples
- ●Insufficient DNA quantity or quality
- ●Presence of large deletions/duplications not detected by standard NGS
- ●Mosaic mutations may be below detection threshold
Compare With Similar Tests
| Test | PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test | WES analyzes all coding regions of the genome, whereas this test focuses only on the PIK3R2 gene. WES may identify mutations in other genes causing similar phenotypes but is more expensive and time-consuming. | CMA detects copy number variations (deletions/duplications) but does not detect single nucleotide variants. This NGS test is more suitable for detecting point mutations in PIK3R2. | Sanger sequencing is the gold standard for single-gene testing but is less efficient for large genes. NGS provides higher throughput and can detect mosaic variants with better sensitivity. |
Frequently Asked Questions
What is the cost of the PIK3R2 MPPH NGS genetic test in India?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
What does a positive result mean?
Can this test be done during pregnancy?
Will I receive raw data files?
Is home sample collection available?
What is the sensitivity of this NGS test?
Are there any risks associated with the test?
Can this test detect all types of PIK3R2 mutations?
Who should consider this test?
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