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RNF213 Gene Moyamoya disease type 2, susceptibility to NGS Genetic Test

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RNF213 Gene Moyamoya disease type 2, susceptibility to NGS Genetic Test

Short Name: RNF213 Moyamoya Type 2 NGS Test

Also known as: RNF213 Mutation Test, Moyamoya Disease Genetic Test, RNF213 Gene Analysis

RNF213 Gene Moyamoya disease type 2, susceptibility to NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next Generation Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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 this test is to identify mutations in the RNF213 gene that increase susceptibility to Moyamoya disease type 2, aiding in diagnosis, risk assessment, and family planning.

Test Code
5334
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS, Next Generation Sequencing
Step 1

Sample Collection

No specific preparation required. Ensure genetic counseling session is scheduled to discuss family history and test implications.

Method: Venipuncture

Step 2

Laboratory Analysis

A small blood sample will be drawn from a vein in the arm using a sterile needle. The procedure is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately. Store sample as instructed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss family history and test rationale. No fasting required unless specified.
2
During the Test:Blood sample collection via venipuncture; procedure takes about 10-15 minutes.
3
After the Test:Results available in 3-4 weeks. Follow-up counseling to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the RNF213 gene that increase susceptibility to Moyamoya disease type 2, aiding in diagnosis, risk assessment, and family planning.

How to Prepare

  • Fast for 4-6 hours if specified by physician
  • Avoid strenuous activity before sample collection
  • Bring identification and prescription if available
  • Inform staff of any medications or health conditions

Doctor's Notes

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

"This NGS genetic test is essential for early identification of RNF213 gene mutations, enabling proactive management and family planning for Moyamoya disease type 2."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeSmall blood sample (2-5 mL)
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
FTA card samples stable at ambient temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Unlabeled or mislabeled containers
  • Samples older than stability period

Understanding Your Results

Results indicate the presence or absence of mutations in the RNF213 gene. Positive results suggest increased susceptibility to Moyamoya disease type 2, while negative results reduce but do not eliminate risk.
📊

Positive for pathogenic variant

High risk for Moyamoya disease type 2; recommend clinical evaluation and monitoring.

📊

Negative for pathogenic variant

Low genetic risk; consider other diagnostic tests if symptoms persist.

📊

Variant of uncertain significance (VUS)

Further testing and family studies may be needed for clarification.

📊

Likely pathogenic variant

Moderate to high risk; genetic counseling recommended for management.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like headaches, seizures, or neurological deficits, or if you have a family history of Moyamoya disease or stroke.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results may include variants of uncertain significance (VUS)
  • ⚠Does not replace clinical diagnosis or imaging tests
  • ⚠Limited to RNF213 gene analysis; other Moyamoya-related genes not covered

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results
  • ●Potential for inconclusive results requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Recent blood transfusions
  • ●Improper sample storage

Compare With Similar Tests

TestRNF213 Gene Moyamoya disease type 2, susceptibility to NGS Genetic TestACTA2 Gene TestComprehensive Moyamoya PanelStroke Risk Genetic PanelWhole Exome Sequencing
ComparisonRNF213 Gene Moyamoya disease type 2, susceptibility to NGS Genetic Test

Frequently Asked Questions

What is the RNF213 Gene Moyamoya Disease Type 2 NGS Genetic Test?
It is a Next Generation Sequencing test that detects mutations in the RNF213 gene, which are associated with increased susceptibility to Moyamoya disease type 2.
Who should consider this genetic test?
Individuals with symptoms of Moyamoya disease, such as headaches or strokes, or those with a family history of the condition, especially of Asian descent.
How is the test performed?
A small blood sample is collected and analyzed using NGS technology to identify mutations in the RNF213 gene.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, analysis, and genetic counseling.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate whether pathogenic mutations in the RNF213 gene are present, which can inform diagnosis and risk management for Moyamoya disease.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic results may have psychological implications, so counseling is provided.
Can this test diagnose Moyamoya disease?
It helps identify genetic susceptibility but should be used alongside clinical evaluation and imaging tests for diagnosis.
Is the test covered by insurance?
Coverage varies; it is not typically covered under government schemes like PMJAY, but check with private insurers.
What should I do before the test?
Attend a genetic counseling session to discuss family history and understand the test process. No special preparation is needed.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting known mutations, but results may include variants of uncertain significance, requiring further interpretation.
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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