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SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic Test

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SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic Test

Short Name: SAMHD1 AGS Type 5 NGS Test

Also known as: AGS Type 5 Test, SAMHD1 Mutation Analysis, Aicardi-Goutieres Syndrome Type 5 Genetic Test

SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 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.

NGS Genetic TestPediatric and Adult🏠 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 detect pathogenic variants in the SAMHD1 gene to diagnose Aicardi-Goutieres Syndrome Type 5, support clinical management, and facilitate genetic counseling for affected individuals and families.

Test Code
1497
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)
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling. No specific preparation is required, but ensure proper identification and consent.

Method: Venipuncture or Finger-prick

Step 2

Laboratory Analysis

Blood sample will be drawn via venipuncture or a finger-prick for FTA card collection by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.

Timeline: 3 to 4 Weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling session recommended to understand the test implications and draw a family pedigree chart.
2
During the Test:Sample collection involves a simple blood draw or FTA card finger-prick. The process is quick and minimally invasive.
3
After the Test:Results are available online within 3-4 weeks. Follow-up consultation with a healthcare provider is advised for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the SAMHD1 gene to diagnose Aicardi-Goutieres Syndrome Type 5, support clinical management, and facilitate genetic counseling for affected individuals and families.

How to Prepare

  • Use sterile equipment and follow standard phlebotomy protocols
  • For FTA card, ensure proper application of blood drop and air drying
  • Label samples accurately with patient details
  • Transport samples at ambient temperature as specified

Doctor's Notes

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

"This test is essential for early and precise diagnosis of Aicardi-Goutieres Syndrome Type 5, enabling timely management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Finger-prick

Sample Stability

Blood in EDTA tube: Stable for 7 days at room temperature
FTA card: Stable for months at room temperature when properly stored
Extracted DNA: Stable for long-term storage at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improper labeling or documentation
  • Contaminated samples

Understanding Your Results

Results from the SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic Test should be interpreted by a qualified healthcare professional. A positive result indicates the presence of pathogenic mutations in the SAMHD1 gene, confirming AGS Type 5. A negative result suggests no detectable mutations, but does not completely exclude the disorder due to test limitations.
📊

Positive for pathogenic variants

Confirms diagnosis of Aicardi-Goutieres Syndrome Type 5. Recommend clinical management, genetic counseling, and family screening.

📊

Negative for pathogenic variants

No mutations detected in the SAMHD1 gene. Consider other genetic or clinical causes if symptoms persist.

📊

Variant of uncertain significance (VUS)

A genetic variant was found, but its clinical significance is unknown. Further testing and family studies may be required.

⚠️ When to Consult a Doctor:

Consult a healthcare professional if your child exhibits symptoms such as seizures, developmental delays, movement disorders, or if there is a family history of AGS. After testing, discuss results with a geneticist or neurologist for personalized advice.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
  • ⚠Results should be interpreted in conjunction with clinical findings and family history
  • ⚠Does not rule out other genetic disorders with overlapping symptoms
  • ⚠Limited to analysis of the SAMHD1 gene; not comprehensive for all AGS-related genes

Risks & Considerations

  • ●Minimal physical risks from blood draw, such as bruising or discomfort
  • ●Potential psychological impact from results, requiring genetic counseling
  • ●Risk of misinterpretation without professional guidance

Interfering Factors

  • ●Poor sample quality or insufficient DNA quantity
  • ●Contamination during sample collection or processing
  • ●Use of anticoagulants that may affect DNA integrity
  • ●Recent blood transfusions potentially altering genetic profile

Compare With Similar Tests

TestSAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic TestTREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic TestRNASEH2A Gene Aicardi-Goutieres Syndrome Type 2 NGS Genetic TestComprehensive Aicardi-Goutieres Syndrome Panel
ComparisonSAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic TestTests for mutations in TREX1 gene, associated with AGS Type 1. Similar NGS method but different gene and clinical implications.Focuses on RNASEH2A gene mutations for AGS Type 2. Used for differential diagnosis within AGS spectrum.Tests multiple genes (e.g., TREX1, RNASEH2A/B, SAMHD1, ADAR) for broader AGS detection.

Frequently Asked Questions

What is Aicardi-Goutieres Syndrome Type 5?
AGS Type 5 is a rare genetic disorder caused by mutations in the SAMHD1 gene, affecting the brain and immune system, leading to symptoms like seizures and developmental delays.
How is the SAMHD1 Gene Test performed?
The test uses Next Generation Sequencing (NGS) to analyze DNA from blood or extracted samples, detecting mutations in the SAMHD1 gene.
What is the cost of this test?
The SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic Test costs INR 20000 at DNA Labs India, inclusive of home collection.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What do the results mean?
Positive results indicate mutations in the SAMHD1 gene, confirming AGS Type 5. Negative results mean no mutations detected, but consult a doctor for further evaluation.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings if there is a known family history, but genetic counseling is essential before and after testing.
What are the symptoms of AGS Type 5?
Common symptoms include seizures, developmental delays, movement disorders, enlarged liver/spleen, anemia, and brain inflammation, typically appearing in early infancy.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers affordable pricing, but schemes like PMJAY may not cover it.
What is the turnaround time for the test?
The test has a turnaround time of 3 to 4 weeks from sample receipt.
Why choose DNA Labs India for this test?
DNA Labs India provides transparent reporting with raw data, FASTQ, and VCF files, along with clinical reports, ensuring comprehensive genetic 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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