COL4A1 Gene Porencephaly, familial NGS Genetic Test
Short Name: COL4A1 NGS
Also known as: COL4A1 gene sequencing, Porencephaly genetic test, Familial porencephaly NGS panel
COL4A1 Gene Porencephaly, familial 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 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 COL4A1-related porencephaly, identify the specific genetic mutation, and provide information for family planning and management. It is also used for predictive testing in at-risk family members and for prenatal diagnosis in families with known mutations.
- Test Code
- 5915
- 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 typically available 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 to discuss the implications of the test.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For FTA card, a fingerstick blood drop is collected.
Report Delivery
No specific precautions. Resume normal activities.
Timeline: Reports are typically available 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 COL4A1-related porencephaly, identify the specific genetic mutation, and provide information for family planning and management. It is also used for predictive testing in at-risk family members and for prenatal diagnosis in families with known mutations.
How to Prepare
- For blood sample: Use EDTA tube, mix gently.
- For FTA card: Apply one drop of blood to the designated circle, air dry.
- Label the sample with patient name and date of birth.
- Transport at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"COL4A1 mutations are a significant cause of familial porencephaly. Early genetic diagnosis is crucial for management and family counseling."
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 transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of COL4A1-related porencephaly. Genetic counseling is recommended for the family.
Likely pathogenic variant detected
Highly suggestive of the disease; further evidence may be needed for definitive classification.
Variant of uncertain significance (VUS)
Cannot be classified as pathogenic or benign; additional testing or family studies may be helpful.
No pathogenic variant detected
Does not rule out COL4A1-related porencephaly; other genetic or non-genetic causes should be considered.
Consult a geneticist or neurologist if you or your child have symptoms suggestive of porencephaly, or if there is a family history of COL4A1-related disorders.
Limitations
- ⚠This test detects mutations in the COL4A1 gene only; other genetic causes of porencephaly are not evaluated.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Test does not predict severity or progression of the disease.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute patient DNA)
- ●Bone marrow transplantation (chimerism)
Compare With Similar Tests
| Test | COL4A1 Gene Porencephaly, familial NGS Genetic Test | COL4A1 Gene Sequencing (Sanger) | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | COL4A1 Gene Porencephaly, familial NGS Genetic Test | Sanger sequencing is targeted to specific exons and may miss large deletions. NGS provides comprehensive coverage of the entire gene. | WES analyzes all coding regions of the genome, which may identify other genetic causes but is more expensive and complex. | CMA detects copy number variations but does not detect point mutations in COL4A1. |
Frequently Asked Questions
What is COL4A1 gene porencephaly?
What are the symptoms of COL4A1 porencephaly?
How is COL4A1 porencephaly diagnosed?
What is the cost of the COL4A1 NGS genetic test in India?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get the results?
Is home sample collection available?
Will insurance cover the cost of the test?
What does the test detect?
Can this test be used for prenatal diagnosis?
What is the significance of genetic counseling?
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