ARFGEF2 Gene Periventricular heterotopia with microcephaly NGS Genetic Test
Short Name: ARFGEF2 PH-M NGS Test
Also known as: ARFGEF2-related periventricular heterotopia test, PH-M ARFGEF2 gene mutation analysis, Periventricular heterotopia microcephaly NGS test
ARFGEF2 Gene Periventricular heterotopia with microcephaly 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To confirm a clinical or radiological diagnosis of periventricular heterotopia with microcephaly by identifying a pathogenic or likely pathogenic variant in the ARFGEF2 gene using next-generation sequencing. It also assists in evaluating recurrence risk, reproductive counselling, and long-term management planning.
- Test Code
- 4451
- 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 dietary or fasting preparation is needed. The patient's clinical history, family history and pedigree information should be reviewed during a genetic counselling session before the test.
Method: Peripheral blood draw / FTA card dried blood spot / extracted DNA submission
Laboratory Analysis
Depending on the chosen sample type, a small amount of blood will be drawn, or a few drops of blood will be placed on an FTA card. This is a simple and safe procedure.
Report Delivery
There are no post-collection restrictions. The sample will be labelled and transported according to genetic testing guidelines. Patients should wait for the report and follow up with their doctor for interpretation.
Timeline: 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To confirm a clinical or radiological diagnosis of periventricular heterotopia with microcephaly by identifying a pathogenic or likely pathogenic variant in the ARFGEF2 gene using next-generation sequencing. It also assists in evaluating recurrence risk, reproductive counselling, and long-term management planning.
How to Prepare
- No fasting is required
- Pre-test genetic counselling session is required
- Please carry previous medical reports and imaging, if available
- Free home sample collection can be scheduled when booking online
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is valuable not only for confirming a diagnosis but also for informing reproductive decisions. We strongly recommend pre-test and post-test genetic counselling for all families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Incorrect or missing patient identification
- Clotted or haemolysed blood sample
- Insufficient sample quantity
- Improperly stored or contaminated sample
- Sample received beyond the recommended time limit
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of ARFGEF2-related periventricular heterotopia with microcephaly. Genetic counselling is recommended for the patient and family.
Likely pathogenic variant detected
Variant is highly likely to be disease-causing. Further family testing or clinical correlation may strengthen the interpretation.
Negative / No pathogenic variant detected
No disease-causing variant was identified in the ARFGEF2 gene. Other genetic and non-genetic causes should be considered.
Variant of uncertain significance (VUS) detected
A variant was found, but its clinical significance is not yet known. Additional segregation or functional studies may be required.
If you or your child has microcephaly, developmental delay, seizures, abnormal muscle tone, or a family history of periventricular heterotopia with microcephaly, consult a neurologist or clinical geneticist for evaluation and genetic testing.
Limitations
- ⚠This test only analyses the ARFGEF2 gene and does not rule out mutations in other heterotopia or microcephaly genes.
- ⚠Standard NGS may not detect all large deletions, duplications, or complex rearrangements unless specifically included.
- ⚠A variant of uncertain significance (VUS) may require additional family segregation studies.
- ⚠Results should be interpreted in the context of clinical findings and imaging.
Risks & Considerations
- ●Minimal discomfort or bruising at the venipuncture site
- ●No significant risks associated with FTA card blood spot collection
Interfering Factors
- ●Incorrect patient identification or sample labelling
- ●Sample contamination or DNA degradation
- ●Low quantity or poor quality of extracted DNA
- ●Certain deep intronic or large structural variants may not be detected by standard targeted NGS
- ●Variants in other genes are not analysed by this single-gene test
Compare With Similar Tests
| Test | ARFGEF2 Gene Periventricular heterotopia with microcephaly NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | ARFGEF2 Gene Periventricular heterotopia with microcephaly NGS Genetic Test |
Frequently Asked Questions
What is the ARFGEF2 gene periventricular heterotopia with microcephaly NGS genetic test?
What is the cost of this test?
What type of sample is required?
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Can this test detect all genetic causes of microcephaly?
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