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RANBP2 Gene Encephalopathy, acute, necrotizing, type 1 NGS Genetic Test

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RANBP2 Gene Encephalopathy, acute, necrotizing, type 1 NGS Genetic Test

Short Name: RANBP2 NGS Genetic Test

Also known as: Acute Necrotizing Encephalopathy Type 1, ANE1, RANBP2-associated acute necrotizing encephalopathy

RANBP2 Gene Encephalopathy, acute, necrotizing, type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Targeted RANBP2 gene analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally delivered within 3 to 4 weeks after the laboratory receives the sample.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 is to detect disease-associated variants in the RANBP2 gene in patients with clinical features of acute necrotizing encephalopathy type 1, and to support clinical diagnosis, treatment planning and family counselling.

Test Code
4061
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally delivered within 3 to 4 weeks after the laboratory receives the sample.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Targeted RANBP2 gene analysis
Step 1

Sample Collection

No special preparation is required. A genetic counselling session is recommended before the test to review personal and family medical history.

Method: Peripheral blood draw or FTA card spot

Step 2

Laboratory Analysis

A small amount of blood is collected from a vein in the arm, or a single blood spot is obtained on an FTA card. In some cases, a previously extracted DNA sample can be used.

Step 3

Report Delivery

No special aftercare is needed. You may resume normal activities. Your clinical report will be shared once genetic analysis and variant interpretation are complete.

Timeline: Reports are generally delivered within 3 to 4 weeks after the laboratory receives the sample.

Patient Instructions

1
Before the Test:A clinical assessment and genetic counselling session should be completed before the test. This helps in selecting the appropriate test and interpreting the result correctly.
2
During the Test:During the test, a blood sample or FTA card blood spot is collected. The NGS analysis then sequences the RANBP2 gene in the laboratory.
3
After the Test:After the test, you will be advised about the report timeline. Once the report is ready, a genetic counsellor can explain the implications and next steps.

About This Test

Who Should Get This Test

The purpose is to detect disease-associated variants in the RANBP2 gene in patients with clinical features of acute necrotizing encephalopathy type 1, and to support clinical diagnosis, treatment planning and family counselling.

How to Prepare

  • Bring previous medical records, neuroimaging reports and family history details
  • Inform the lab if you have already had prior genetic testing
  • Sample can be collected at home through the free home collection service or at a nearby DNA Labs India centre

Doctor's Notes

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

"A detailed clinical and family history is essential before ordering this test. RANBP2-related encephalopathy often presents after an acute viral illness and can mimic other neurological emergencies, so a high index of suspicion and a multidisciplinary diagnostic approach are needed."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for DNA extraction
ContainerEDTA vacutainer / FTA card / sterile tube with extracted DNA
Collection MethodPeripheral blood draw or FTA card spot

Sample Stability

EDTA whole blood: transport at 2-8°C as per laboratory instructions
FTA card: stable at room temperature for shipping
Sample Rejection Criteria:
  • Clotted or hemolysed blood sample
  • Insufficient quantity of DNA
  • Improperly labelled or unaccompanied sample

Understanding Your Results

The test looks for pathogenic and likely pathogenic variants in the RANBP2 gene. Genetic test results are interpreted by a clinical geneticist after combining clinical findings, family history and variant classification.
📊

Pathogenic variant identified

Supports the clinical diagnosis of RANBP2-associated acute necrotizing encephalopathy type 1. Genetic counselling is recommended.

📊

Likely pathogenic variant identified

Suggests a probable disease-causing variant. Family testing and clinical correlation are advised.

📊

Variant of uncertain significance (VUS)

The clinical impact is not yet clear. Additional family segregation analysis may be helpful.

📊

No pathogenic variant identified

No reportable disease-associated variant was found. This does not rule out a genetic or acquired cause.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, neurologist or paediatric neurologist if the report identifies a pathogenic/likely pathogenic variant or VUS, or if causative variants are not found but symptoms remain unexplained.

Limitations

  • ⚠Targeted NGS may not detect deep intronic variants, structural rearrangements or repeat expansion disorders
  • ⚠A negative result does not exclude a genetic cause or a non-genetic trigger
  • ⚠Variant reclassification may occur as new evidence emerges

Risks & Considerations

  • ●The blood draw may cause minimal pain, bruising or bleeding at the puncture site
  • ●There is no risk of acquiring the disease from the test itself

Interfering Factors

  • ●Variants of uncertain significance may be identified and require further family studies
  • ●Poor quality or quantity of DNA may reduce sequencing sensitivity
  • ●Sample contamination may affect variant interpretation

Frequently Asked Questions

What is RANBP2 gene encephalopathy, acute necrotizing, type 1?
RANBP2 gene encephalopathy, acute necrotizing type 1, is a rare genetic disorder associated with pathogenic variants in the RANBP2 gene. It increases the risk of severe brain inflammation and necrosis during or after an acute illness, such as a viral infection.
What is the role of NGS in diagnosing RANBP2 gene encephalopathy?
NGS is a high-throughput genetic testing method that can sequence the RANBP2 gene efficiently and accurately. It helps identify pathogenic variants in patients with clinical features of acute necrotizing encephalopathy, especially when the diagnosis is not clear on clinical or radiological findings alone.
What are the common symptoms of RANBP2 gene encephalopathy?
Common symptoms include seizures, developmental delay, intellectual disability, abnormal movements, muscle stiffness, difficulty swallowing and visual problems. The disorder often presents as an acute encephalopathic episode after fever or infection.
When should this genetic test be considered?
The test should be considered in a patient with unexplained acute encephalopathy, recurrent necrotizing encephalopathy, seizures with neurodevelopmental regression, or when a family member is known to carry a pathogenic RANBP2 variant.
What is the cost of the RANBP2 NGS genetic test at DNA Labs India?
The discounted price for this NGS genetic test is INR 20,000 (Rs 20,000). Online bookings include free home sample collection.
What type of sample is needed for this test?
A peripheral blood sample in an EDTA tube, extracted DNA, or one drop of blood on an FTA card is required for RANBP2 NGS genetic testing.
Do I need to fast for this test?
No, fasting is not required for the RANBP2 gene NGS genetic test.
How soon will the test report be available?
The clinical report is usually delivered within 3 to 4 weeks from the date the sample reaches the laboratory.
What does genetic counselling involve for this test?
A genetic counsellor will take a detailed family history, draw a pedigree chart, explain the purpose and possible outcomes of the test, and obtain informed consent. After the test, the counsellor helps interpret the report and discuss recurrence risks.
What does a positive RANBP2 genetic test result mean?
A positive result means a pathogenic or likely pathogenic variant has been found in the RANBP2 gene. This is associated with an increased likelihood of acute necrotizing encephalopathy type 1. Medical management and genetic counselling should be individualized.
Can a negative result rule out the condition?
No. A negative result does not completely exclude RANBP2-related encephalopathy because NGS may not detect all types of variants. The result must be interpreted with the clinical picture and other investigations.
Will I receive raw data and VCF files with the report?
Yes. DNA Labs India provides raw data files such as FASTQ and VCF along with the clinical report, making the testing process transparent and allowing for future reinterpretation or secondary analysis.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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