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COL4A2 Gene Porencephaly type 2 NGS Genetic Test

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COL4A2 Gene Porencephaly type 2 NGS Genetic Test

Short Name: COL4A2 NGS Genetic Test

Also known as: Porencephaly type 2 genetic test, COL4A2 gene mutation analysis, COL4A2-related porencephaly NGS panel

COL4A2 Gene Porencephaly type 2 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 generally available within 3 to 4 weeks from the date the sample is received at the laboratory. In some cases, repeat testing or additional genomic analysis may extend the turnaround time, which will be communicated by our team.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the COL4A2 gene porencephaly type 2 NGS genetic test is to detect pathogenic or likely pathogenic variants in the COL4A2 gene in individuals suspected of having porencephaly type 2. It aims to confirm the clinical diagnosis, assess the risk of familial recurrence, guide treatment decisions, and enable early intervention. The test is also useful for carrier testing in family members when a pathogenic variant is identified, and for prenatal diagnosis when combined with appropriate genetic counselling.

Test Code
4481
ICD Code
Q04.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks from the date the sample is received at the laboratory. In some cases, repeat testing or additional genomic analysis may extend the turnaround time, which will be communicated by our team.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or special preparation is required. Maintain adequate hydration. Please bring a valid photo ID and any relevant medical records, imaging reports, and family history documentation.

Method: Venipuncture / Dried blood spot

Step 2

Laboratory Analysis

Blood is drawn by a trained phlebotomist using a sterile needle into an EDTA tube. For FTA card sample, a small drop of blood is applied to the card. The procedure is quick and virtually painless.

Step 3

Report Delivery

After blood collection, you may resume normal activities immediately. A small bruise or mild tenderness at the puncture site is normal and resolves rapidly. No post-collection restrictions apply.

Timeline: Reports are generally available within 3 to 4 weeks from the date the sample is received at the laboratory. In some cases, repeat testing or additional genomic analysis may extend the turnaround time, which will be communicated by our team.

Patient Instructions

1
Before the Test:Before the test, you will receive a detailed pre-test consultation. A genetic counsellor may draw a pedigree chart of family members affected with COL4A2 gene porencephaly type 2. Please bring previous medical reports, imaging scans, and any known family history. No fasting is required, and you can continue your regular medications unless advised otherwise.
2
During the Test:The test involves a simple blood draw or FTA card sample collection. The process takes less than 5 minutes. You may feel a slight pinprick. Samples are carefully labelled and sent to our accredited genetic laboratory for NGS analysis.
3
After the Test:There is no recovery time. You can leave immediately after sample collection. The laboratory will process your sample using validated NGS methodology. Reports are typically delivered within 3 to 4 weeks. If a genetic counselling session is needed to discuss results, our clinical geneticist will arrange it.

About This Test

Who Should Get This Test

The purpose of the COL4A2 gene porencephaly type 2 NGS genetic test is to detect pathogenic or likely pathogenic variants in the COL4A2 gene in individuals suspected of having porencephaly type 2. It aims to confirm the clinical diagnosis, assess the risk of familial recurrence, guide treatment decisions, and enable early intervention. The test is also useful for carrier testing in family members when a pathogenic variant is identified, and for prenatal diagnosis when combined with appropriate genetic counselling.

How to Prepare

  • Collection can be done at home or at a DNA Labs India collection centre.
  • Blood can be drawn in an EDTA vacutainer or spotted on an FTA card.
  • FTA card sample should be air-dried completely before placing in the provided envelope.
  • Ensure the sample is labelled with the patient's name, date of birth, and collection date.
  • For children and neonates, a minimal volume is needed; consult with our collection team.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for COL4A2 mutations is crucial for early diagnosis and management of porencephaly, enabling timely intervention and family counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 mL blood or one spot on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture / Dried blood spot

Sample Stability

EDTA whole blood: stable for 7 days at 2-8°C, 48 hours at room temperature
Extracted DNA: stable for 12 months at -20°C
FTA card: stable for several months at ambient temperature
Sample Rejection Criteria:
  • Clotted blood sample
  • Haemolysed or lipemic sample
  • Insufficient sample volume
  • Mislabeled or unlabelled sample
  • Sample exposed to extreme temperatures during transport

Understanding Your Results

Interpretation of the COL4A2 NGS genetic test is based on the identification of variants in the COL4A2 gene that are classified according to the ACMG/AMP guidelines. The report will state whether a pathogenic, likely pathogenic, or variant of uncertain significance (VUS) is present, and whether the finding is consistent with a diagnosis of COL4A2-related porencephaly type 2.
Pathogenic variant detected: Confirms the diagnosis of COL4A2-related porencephaly type 2. Genetic counselling and family testing recommended.
Likely pathogenic variant detected: Highly suggestive of diagnosis; further evidence may be needed but clinical correlation is supportive.
Variants of uncertain significance (VUS): Variant does not currently allow definitive diagnosis; additional testing of family members may help clarify.
Negative result (no pathogenic variant): Does not rule out a genetic cause; other genes or non-genetic causes should be considered.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or your child experience seizures, developmental delay, spasticity, unexplained weakness, or if brain imaging reveals porencephaly-like cavities. Early referral for genetic testing can provide a definitive diagnosis and guide medical management and family planning.

Risks & Considerations

  • ●Minor discomfort or bruising at the venipuncture site
  • ●Rare risk of infection or excessive bleeding (standard blood draw risks)
  • ●Psychological/family implications when results reveal a genetic condition

Interfering Factors

  • ●Poor DNA quality or quantity due to improper sample handling
  • ●Sample contamination during collection or processing
  • ●Rarely, NGS may not detect all variant types (e.g., large deletions, structural rearrangements)
  • ●Homologous pseudogenes or GC-rich regions may affect sequencing performance

Compare With Similar Tests

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Frequently Asked Questions

What is the COL4A2 gene porencephaly type 2 NGS genetic test?
This test is a next-generation sequencing (NGS) based analysis that detects mutations in the COL4A2 gene, which are responsible for porencephaly type 2, a rare genetic brain disorder. It confirms the diagnosis and supports management.
Who should undergo this test?
Individuals who have symptoms suggestive of porencephaly, such as seizures, intellectual disability, developmental delay, hemiparesis, or spasticity, especially when brain imaging shows fluid-filled cavities in the brain. It is also recommended for other at-risk members of families with known COL4A2 mutations.
How is the test performed?
The test requires a small blood sample (EDTA tube), extracted DNA, or a drop of blood on an FTA card. The sample is sent to our NGS laboratory, and the COL4A2 gene is sequenced using next-generation technology to identify pathogenic variants.
What is the cost of the test?
The cost of the COL4A2 gene porencephaly type 2 NGS genetic test at DNA Labs India is INR 20,000. Prices may vary slightly by location and additional services, but the special discounted price of Rs 20000 is available across India.
Do I need to fast before the test?
No, fasting is not required. This is a genetic test and does not need any dietary restrictions. You can eat and drink normally before sample collection.
What sample is needed for the test?
The sample can be venous blood collected in an EDTA tube, or a dried blood spot on an FTA card. Extracted DNA from another laboratory is also acceptable if provided with proper documentation.
How long does it take to get reports?
Reports are usually available within 3 to 4 weeks after the sample reaches our laboratory. Our team will notify you once the report is ready for download or delivery.
What do the results of the test mean?
If a pathogenic variant is identified, it confirms the diagnosis of COL4A2-related porencephaly type 2. A negative result reduces the likelihood of this specific genetic cause but does not exclude other genes or non-genetic causes. VUS results need further evaluation.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across more than 200 Indian cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and many others. Our trained phlebotomists visit your home as scheduled.
Can this test detect all porencephaly causes?
No, this test is specifically targeted to the COL4A2 gene. Porencephaly can also be caused by mutations in COL4A1, other genetic syndromes, or acquired factors like stroke or trauma. A broader panel or whole exome sequencing may be needed in certain cases.
Are there any risks associated with the test?
There are minimal risks, similar to a standard blood draw, such as a slight bruise or discomfort. There are no other physical health risks. Genetic results may carry emotional or family implications, so genetic counselling is recommended.
How can I book this test at DNA Labs India?
You can book online through our website, call us at +91-XXXXXXXXXX, or whatsapp us. We will arrange a home sample collection at your convenience and answer any questions about the test process.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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