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SCARB2 Gene Epilepsy, progressive myoclonic type 4, with or without renal failure NGS Genetic Test

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SCARB2 Gene Epilepsy, progressive myoclonic type 4, with or without renal failure NGS Genetic Test

Short Name: SCARB2 NGS Genetic Test

Also known as: SCARB2 gene mutation analysis, Progressive myoclonic epilepsy type 4 genetic test, Action myoclonus-renal failure syndrome (AMRF) genetic test, EPM4 genetic test

SCARB2 Gene Epilepsy, progressive myoclonic type 4, with or without renal failure 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 the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the SCARB2 gene to confirm a diagnosis of progressive myoclonic epilepsy type 4 with or without renal failure, aid in genetic counseling, and guide treatment and management decisions.

Test Code
4083
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from the date of sample receipt at the laboratory.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required. Fasting is not necessary. Patients should provide a detailed clinical history and any prior EEG, MRI, or renal reports. Genetic counseling is recommended before testing to review the implications for the patient and family.

Method: Peripheral blood draw, FTA card sample

Step 2

Laboratory Analysis

A routine blood sample is collected from a vein in a sterile manner. Alternatively, a few drops of blood may be collected on an FTA card for easier transport.

Step 3

Report Delivery

No specific post-test precautions. Resume normal activities immediately. The sample will be transported to the laboratory for DNA extraction and NGS analysis.

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

Patient Instructions

1
Before the Test:Patients should bring previous medical records, including EEG and MRI reports, and a list of current medications. A pre-test genetic counseling session will be arranged to draw a pedigree chart and discuss the benefits and limitations of the test.
2
During the Test:A blood sample or FTA card sample is collected. DNA is extracted and the SCARB2 gene is analyzed using next-generation sequencing. The procedure is minimally invasive and no sedation is required.
3
After the Test:The patient can resume normal activities immediately. Reports are typically available in 3 to 4 weeks. Post-test genetic counseling is recommended to interpret the results and discuss management options.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the SCARB2 gene to confirm a diagnosis of progressive myoclonic epilepsy type 4 with or without renal failure, aid in genetic counseling, and guide treatment and management decisions.

How to Prepare

  • Blood sample should be collected in an EDTA tube.
  • For FTA card, apply one drop of blood on each marked circle and allow to air dry completely.
  • Label the tube/card with patient name, date of birth, and unique identification number.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic counseling is essential before and after testing to understand the implications of SCARB2 variants, especially for family planning and at-risk relatives."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodPeripheral blood draw, FTA card sample

Sample Stability

Whole blood (EDTA): stable for 72 hours at room temperature (15-25°C).
Extracted DNA: stable for 1 year when stored at -20°C.
FTA card: stable for several months at room temperature when stored in a dry, sealed pouch.
Sample Rejection Criteria:
  • Sample received without proper patient identification.
  • Clotted blood sample.
  • Hemolyzed blood sample.
  • FTA card not completely dry before sealing in a plastic bag.

Understanding Your Results

SCARB2 pathogenic variants are inherited in an autosomal recessive pattern. Detection of two pathogenic variants (homozygous or compound heterozygous) confirms the diagnosis of progressive myoclonic epilepsy type 4. A single pathogenic variant indicates carrier status for the disorder.
📊

Confirms diagnosis of SCARB2-associated progressive myoclonic epilepsy type 4 (EPM4) with or without renal failure.

📊

Indicates carrier status for an autosomal recessive disorder; parental testing and genetic counseling are recommended.

📊

Does not exclude SCARB2-related epilepsy; other genetic and non-genetic causes should be considered.

📊

Additional family studies may be needed to determine the clinical significance of the variant.

⚠️ When to Consult a Doctor:

If you or a family member experience myoclonic jerks, recurrent seizures, progressive ataxia, cognitive decline, or concurrent renal failure, consult a neurologist for a comprehensive evaluation. A medical geneticist should be involved for genetic testing and counseling.

Limitations

  • ⚠A negative result does not rule out other genetic causes of epilepsy.
  • ⚠Variants of uncertain significance (VUS) may be reported; clinical correlation is required.
  • ⚠This test only analyzes the SCARB2 gene, not other genes associated with progressive myoclonic epilepsy.
  • ⚠Large deletions or duplications may not be detected unless specifically analyzed by additional methods.

Risks & Considerations

  • ●Bruising or slight discomfort at the venipuncture site.
  • ●Rare risk of infection at the needle insertion site.
  • ●Psychological distress related to genetic results, mitigated by genetic counseling.

Interfering Factors

  • ●Poor quality or quantity of extracted DNA.
  • ●Contamination during sample collection or processing.
  • ●Presence of maternal cell contamination in blood samples from infants.
  • ●Certain complex rearrangements or deep intronic variants that NGS may not detect.

Compare With Similar Tests

TestSCARB2 Gene Epilepsy, progressive myoclonic type 4, with or without renal failure NGS Genetic Test
ComparisonSCARB2 Gene Epilepsy, progressive myoclonic type 4, with or without renal failure NGS Genetic Test

Frequently Asked Questions

What is the SCARB2 gene epilepsy NGS genetic test?
It is a targeted genetic test that analyzes the SCARB2 gene using next-generation sequencing to detect disease-causing mutations associated with progressive myoclonic epilepsy type 4 with or without renal failure.
What symptoms are associated with SCARB2 gene mutations?
Common symptoms include myoclonus (muscle twitching), seizures, ataxia, progressive cognitive decline, and in some cases renal failure.
Who should consider taking this test?
Individuals with progressive myoclonic epilepsy, unexplained seizures with myoclonus, a family history of the condition, or patients with concomitant renal failure and neurological symptoms.
How is the test performed?
A blood sample (or extracted DNA, or dried blood on FTA card) is collected. DNA is extracted and the SCARB2 gene is analyzed using NGS technology. Variants are confirmed by Sanger sequencing if required.
What is the cost of the test?
The test costs INR 20000.0 in India. Free home sample collection is available for online bookings.
Do I need to fast before the test?
No, fasting is not required. The test can be performed at any time of the day.
What is the turnaround time?
Reports are typically available in 3 to 4 weeks from the time the sample is received at the lab.
Will this test detect all genetic causes of epilepsy?
No, this test only analyzes the SCARB2 gene. If the result is negative, other genetic causes should be considered. A comprehensive epilepsy gene panel may be recommended.
What is the significance of the 'progressive myoclonic type 4' in the test name?
Mutations in SCARB2 cause a subtype of progressive myoclonic epilepsy known as type 4 (EPM4). Some individuals also develop renal failure (action myoclonus-renal failure syndrome/AMRF).
What is the inheritance pattern of SCARB2-related epilepsy?
It is an autosomal recessive disorder. A child must inherit two mutated copies of the gene (one from each parent) to develop the disease.
Does the report include raw data?
Yes, DNA Labs India is transparent and will provide raw data files (FASTQ and VCF) along with the conclusive clinical test report.
Can this test be performed on stored or extracted DNA?
Yes, the test can be performed on blood, extracted DNA, or one drop of blood on an FTA card. The sample should be collected and transported as per the laboratory's instructions.
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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