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DNA Labs India

FLNA Gene Heterotopia, periventricular, ED variant NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FLNA Gene Heterotopia, periventricular, ED variant NGS Genetic Test

Short Name: FLNA Gene NGS Test

Also known as: FLNA Gene NGS Test, Periventricular Heterotopia Genetic Test, BPNH Gene Test, FLNA-Related Disorder Sequencing

FLNA Gene Heterotopia, periventricular, ED variant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from receipt of sample at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The primary purpose of this FLNA gene NGS test is to detect disease-causing pathogenic variants in FLNA in individuals with suspected periventricular heterotopia or FLNA-related neurological disorder. It supports a confirmed genetic diagnosis, defines reproductive risk, and assists clinicians in personalised management of seizures and developmental issues.

Test Code
4119
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from receipt of sample at the laboratory.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation is required. Fasting is not needed. A pre-test genetic counselling session must be completed; please bring relevant clinical records, prior imaging reports, and any previous genetic test results.

Method: Venipuncture / FTA card spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a venous blood sample into an EDTA tube. For FTA card collection, a single drop of blood is spotted onto the card and air-dried.

Step 3

Report Delivery

You can resume regular activities immediately. The sample will be transported to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks from receipt of sample at the laboratory.

Patient Instructions

1
Before the Test:Please complete genetic counselling and provide a detailed clinical history, neuroimaging reports, and any previous genetic testing results. No dietary restrictions or fasting is needed.
2
During the Test:A blood sample is collected by venipuncture, or a dried blood spot is taken on an FTA card. The sample is then sent to the genetics laboratory for DNA extraction and NGS.
3
After the Test:There are no activity restrictions after sample collection. The laboratory will process the sample and issue the report in 3 to 4 weeks.

About This Test

Who Should Get This Test

The primary purpose of this FLNA gene NGS test is to detect disease-causing pathogenic variants in FLNA in individuals with suspected periventricular heterotopia or FLNA-related neurological disorder. It supports a confirmed genetic diagnosis, defines reproductive risk, and assists clinicians in personalised management of seizures and developmental issues.

How to Prepare

  • Fasting is not required.
  • Complete the genetic counselling session before sample collection.
  • Inform the lab about current medications and any previous genetic tests.
  • For FTA card, allow the blood spot to dry completely and avoid contamination.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"When periventricular nodular heterotopia is suspected on imaging, FLNA gene analysis is essential. A confirmed molecular diagnosis enables tailored epilepsy management, developmental support, and accurate recurrence-risk counselling for the family."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL whole blood in EDTA; DNA as per laboratory requirement; one FTA card spot
ContainerEDTA lavender top tube / DNA extraction tube / FTA card
Collection MethodVenipuncture / FTA card spot

Sample Stability

EDTA whole blood: stable for 7 days at 2-8°C; do not freeze.
Extracted DNA: stable for 12 months at -20°C.
FTA card: stable at room temperature until shipping.
Sample Rejection Criteria:
  • Frozen whole blood causing hemolysis
  • Severely hemolyzed or clotted sample
  • Improperly labeled sample
  • Sample without counselling or requisition form

Understanding Your Results

This targeted NGS assay identifies pathogenic variants in the FLNA gene. Results are interpreted by a clinical geneticist in the context of the patient's clinical and radiological findings.
📊

No disease-causing mutation was identified in FLNA using this targeted NGS test.

📊

The finding is consistent with FLNA-related periventricular heterotopia and confirms the molecular diagnosis.

📊

Additional family testing and further studies may help clarify the clinical significance of this variant.

📊

The benign variant does not explain the clinical presentation.

⚠️ When to Consult a Doctor:

If the test identifies a pathogenic variant, consult a clinical geneticist and neurologist for management. If symptoms such as seizures, developmental regression, or neurological deficits appear, seek medical help without delay.

Limitations

  • Targeted NGS of FLNA may not detect large structural rearrangements, deep intronic variants, or repeat expansions.
  • Low-level somatic mosaicism may not be detected.
  • Variants of uncertain significance may require familial segregation studies.
  • A negative result does not exclude all genetic causes; broader testing such as a gene panel or whole exome sequencing may be needed if clinical suspicion remains high.

Risks & Considerations

  • Mild pain, bruising, or dizziness at the blood collection site
  • Very small risk of infection
  • No radiation exposure or fasting-related risk

Interfering Factors

  • Low DNA quality or quantity
  • Hemolyzed or clotted blood sample
  • Maternal cell contamination in prenatal or umbilical cord samples
  • Pseudogene-related sequence homology
  • Large deletions or duplications not detected by standard targeted NGS

Compare With Similar Tests

TestFLNA Gene Heterotopia, periventricular, ED variant NGS Genetic TestFLNA Targeted NGSEpilepsy / Seizure NGS PanelWhole Exome Sequencing
ComparisonFLNA Gene Heterotopia, periventricular, ED variant NGS Genetic Test

Frequently Asked Questions

What is FLNA gene heterotopia?
FLNA gene heterotopia, also called periventricular heterotopia or BPNH, is a rare genetic neurological disorder caused by FLNA mutations. It leads to abnormal clusters of neurons along the ventricles and can cause seizures, developmental delay, and cognitive impairment.
What is the cost of FLNA gene heterotopia NGS genetic test?
At DNA Labs India, the test costs INR 20,000, which includes targeted NGS of the FLNA gene, clinical interpretation, and raw data files such as FASTQ and VCF.
What sample is needed for this test?
The test can be done on 2-3 mL whole blood in EDTA, extracted DNA, or one drop of blood on an FTA card. Fasting is not required.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in major cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and many more.
How soon will I get the report?
The report is generally delivered within 3 to 4 weeks after the sample reaches the laboratory.
Can this test detect all mutations in the FLNA gene?
Targeted NGS detects single nucleotide variants and small insertions/deletions in the FLNA gene. Large deletions, duplications, and structural rearrangements may not be detected by this method.
Why is a genetic counselling session required before the test?
A pre-test counselling session helps document the family history, draw a pedigree chart, explain the test's benefits and limitations, and obtain informed consent.
Why are raw data files like FASTQ and VCF important?
These files provide transparency and allow re-analysis if needed. DNA Labs India is the only lab that shares raw data, FASTQ, and VCF files along with the conclusive clinical report.
Does this test require fasting?
No. Fasting is not required for this genetic test. You can eat and drink as usual before sample collection.
Who should undergo this FLNA gene test?
Individuals with suspected periventricular heterotopia, refractory seizures, unexplained developmental delay, or a family history of FLNA-related disorder should consider testing after clinical evaluation and counselling.
Can a negative result rule out FLNA-related disease?
A negative result significantly lowers but does not completely exclude the diagnosis, especially if the disease is caused by other genetic mechanisms or mosaicism. Follow-up with a clinical geneticist is recommended.
Is this test covered by health insurance?
Insurance coverage depends on the policy and indication. DNA Labs India helps with claims for PMJAY, CGHS, ECHS, ESIC, and private insurance when medically necessary; please confirm coverage with your insurer.
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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