PI4KA Gene Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis NGS Genetic Test
Short Name: PI4KA NGS Test
Also known as: PI4KA Polymicrogyria NGS, Perisylvian Polymicrogyria Genetic Test, Arthrogryposis with Cerebellar Hypoplasia NGS
PI4KA Gene Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 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 3 to 4 weeks from 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 NGS genetic test is to identify mutations in the PI4KA gene that cause perisylvian polymicrogyria with cerebellar hypoplasia and arthrogryposis. Genetic confirmation helps in establishing a definitive diagnosis, guiding prognosis, and enabling informed family planning decisions. It also aids in differentiating this condition from other similar neurodevelopmental disorders.
- Test Code
- 5912
- 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
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended to discuss the test implications and family history.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No specific aftercare needed. The sample is transported to the lab for analysis.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify mutations in the PI4KA gene that cause perisylvian polymicrogyria with cerebellar hypoplasia and arthrogryposis. Genetic confirmation helps in establishing a definitive diagnosis, guiding prognosis, and enabling informed family planning decisions. It also aids in differentiating this condition from other similar neurodevelopmental disorders.
How to Prepare
- Ensure patient identity verification
- Use sterile equipment for blood collection
- Label the sample with patient details and date
- For FTA card, allow blood spot to dry completely before packaging
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for PI4KA mutations is crucial for early diagnosis and management of this rare neurodevelopmental disorder. NGS provides comprehensive analysis of the gene, enabling accurate identification of pathogenic variants."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrect labeling
- Sample received after prolonged transit time without proper storage
- Insufficient sample volume
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of PI4KA-related disorder. Genetic counseling recommended for family planning.
Negative for pathogenic variant
No mutation found in PI4KA gene. Other genetic or non-genetic causes should be considered.
Variant of uncertain significance (VUS)
A variant was found but its clinical significance is unclear. Further testing or family studies may be needed.
Consult a geneticist or pediatric neurologist if the child shows developmental delays, seizures, or joint contractures. Early diagnosis can help in managing symptoms and providing appropriate support.
Limitations
- ⚠NGS may not detect large deletions/duplications or deep intronic variants
- ⚠Variants of uncertain significance may require further analysis
- ⚠Test does not assess non-genetic causes of the phenotype
- ⚠Negative result does not exclude all genetic causes; other genes may be involved
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for variants of uncertain significance causing anxiety
Interfering Factors
- ●Contamination of sample during collection
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (may dilute DNA)
Compare With Similar Tests
| Test | PI4KA Gene Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) |
|---|---|---|---|
| Comparison | PI4KA Gene Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis NGS Genetic Test | WES analyzes all coding regions of genes, whereas this test focuses specifically on PI4KA gene. WES may be considered if PI4KA testing is negative but clinical suspicion remains high. | CMA detects copy number variations but does not detect single nucleotide variants. This NGS test is more suitable for detecting point mutations in PI4KA. |
Frequently Asked Questions
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Will I receive raw data files?
Is genetic counseling included?
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