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Aicardi-Goutieres syndrome gene panel
₹ 19400
Aicardi-Gouti?res Syndrome Gene Panel
₹ 19400 ₹ 19400

Aicardi-Gouti?res Syndrome Gene Panel

Sample Type 51+ booked in last 3 days
Precaution
Sample Type
Swab
Precaution
Fasting
Yes
Precaution
Report
Within 4 Weeks

Aicardi-Goutieres syndrome gene panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Aicardi-Gouti?res Syndrome Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
About 4 weeks
Purpose
To detect genetic changes associated with Aicardi-Gouti?res syndrome

What is the Aicardi-Goutières Syndrome Gene Panel?

The Aicardi-Goutières syndrome gene panel is a specialised genetic blood test used to identify changes in genes linked to Aicardi-Goutières syndrome, a rare inherited neurological and inflammatory condition that typically begins in infancy or early childhood.

This condition affects the brain and immune system and can mimic congenital infections. The test analyses multiple genes using advanced Next Generation Sequencing technology from a blood sample to confirm the genetic cause and support early and accurate diagnosis.

What Does the Aicardi-Goutières Syndrome Gene Panel Measure?

This genetic test examines genes involved in immune regulation and brain development:

  • Detection of disease causing mutations linked to Aicardi-Goutières syndrome
  • Identification of the specific genetic subtype responsible for symptoms
  • Differentiation from congenital infections and other inflammatory brain disorders
  • Support for diagnosis when clinical findings and imaging results are inconclusive

Aicardi-Goutières Syndrome Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for an Aicardi-Goutières Syndrome Gene Panel?

Your doctor may recommend this test if an infant or child shows symptoms such as:

  • Developmental delay or loss of previously achieved milestones
  • Persistent irritability or unexplained crying in infancy
  • Seizures or abnormal movements
  • Feeding difficulties or poor growth
  • Brain imaging findings showing calcifications or white matter changes

Who Should Get an Aicardi-Goutières Syndrome Gene Panel?

This test is advised for:

  • Infants or children with suspected Aicardi-Goutières syndrome
  • Children with neurological regression and inflammatory features
  • Patients initially suspected to have congenital viral infections
  • Families with a known history of Aicardi-Goutières syndrome
  • Couples seeking genetic counselling or prenatal risk assessment

Why is the Aicardi-Goutières Syndrome Gene Panel Done?

The test helps confirm the genetic cause of Aicardi-Goutières syndrome, enabling accurate diagnosis, prognosis assessment, and informed medical and family planning decisions.

Importance of Aicardi-Goutières Syndrome Gene Panel

The Aicardi-Goutières syndrome gene panel plays a vital role in early diagnosis of this rare condition. Identifying the exact genetic cause helps avoid unnecessary investigations, supports early symptom management, and guides long term care planning. It also provides essential information for genetic counselling, carrier detection, and future pregnancy planning for affected families.

Aicardi-Goutières Syndrome Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Aicardi-Goutières Syndrome Gene Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Aicardi-Goutières Syndrome Gene Panel, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
  2. Safe Home Sample Collection
    Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
  3. Sample Tracking Updates
    You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
  4. Accurate Laboratory Testing
    Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology.
  5. Quick and Easy Reports
    Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for Aicardi-Goutières Syndrome Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Aicardi-Goutières Syndrome Gene Panel. This service reduces the need for travel and ensures professional sample handling while maintaining strict quality standards.

In How Much Time Will I Get Aicardi-Goutières Syndrome Gene Panel Report?

Reports are usually available in about 4 weeks once the sample reaches the laboratory.
Note: Reporting time may vary based on your location.

Where Can I See or Get Aicardi-Goutières Syndrome Gene Panel Results?

You can view and download your test results through the Metropolis Healthcare website or mobile app using your login credentials. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.

Interpreting Aicardi-Goutières Syndrome Gene Panel Results

What Your Aicardi-Goutières Syndrome Gene Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 No disease causing variant detected Aicardi-Goutières syndrome linked to the affected gene Symptoms may be due to other genetic, inflammatory, or acquired neurological conditions

Understanding Abnormal Aicardi-Goutières Syndrome Gene Panel Test Results

Gene What a Pathogenic Variant May Indicate
TREX1 Aicardi-Goutières syndrome with early onset neurological and inflammatory features
RNASEH2A, RNASEH2B, RNASEH2C Classic Aicardi-Goutières syndrome with brain inflammation and developmental delay
ADAR, IFIH1 Aicardi-Goutières syndrome with immune mediated neurological involvement
SAMHD1 Aicardi-Goutières syndrome sometimes associated with vascular or systemic features

How Should You Prepare for an Aicardi-Goutières Syndrome Gene Panel?

This genetic test requires minimal preparation from your side:

  • No fasting required: You can eat and drink normally before sample collection
  • Medication information: Inform your doctor about any medicines or supplements being taken
  • Clinical history: Share details of neurological symptoms, imaging findings, or family history
  • Test requisition form: Ensure the completed test requisition form and clinical information are provided

How Is an Aicardi-Goutières Syndrome Gene Panel Done? (Step-by-Step Procedure)

The test is performed using a standard blood collection process:

  • Preparation: A tourniquet is tied around your arm to make veins more visible
  • Cleaning: The puncture site is cleaned with antiseptic
  • Sample Collection: A sterile needle is used to collect about 3 to 5 ml of blood into an EDTA vacutainer
  • Completion: The needle is removed, and a bandage is applied
  • Processing: The blood sample is analysed using Next Generation Sequencing to study the listed genes

Conditions That May Affect Aicardi-Goutières Syndrome Gene Panel Accuracy

Certain patient related factors may influence result interpretation:

  • Incomplete clinical history may limit correlation with genetic findings
  • Variants of uncertain significance may require specialist follow up
  • Very early testing may need correlation with imaging and laboratory findings

Diseases That Aicardi-Goutières Syndrome Gene Panel Can Help Detect

  • Aicardi-Goutières syndrome
  • Genetic interferonopathies affecting the brain
  • Inherited inflammatory neurological disorders
  • Genetic causes of early onset neurodevelopmental regression

References

  1. Crow Y.J., Hayward B.E., Parmar R., et al. (2006). Mutations in the gene encoding the 3′–5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nature Genetics, 38(8), 917–920. PMID: 16845398
  2. Rice G.I., Bond J., Asipu A., et al. (2009). Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as a regulator of the innate immune response. Nature Genetics, 41(7), 829–832. PMID: 19525956
  3. Crow Y.J., Rehwinkel J. (2009). Aicardi-Goutières syndrome and related phenotypes: Linking nucleic acid metabolism with autoimmunity. Human Molecular Genetics, 18(R2), R130–R136. PMID: 19808788
  4. Livingston J.H., Crow Y.J. (2016). Neurologic phenotypes of Aicardi-Goutières syndrome. Neurology, 87(5), 1–9. PMID: 27385718

Frequently asked questions

Find quick answers to the most common questions about health tests, bookings, and reports.

Regular exercise, a balanced diet, avoiding smoking, maintaining a healthy weight, and managing stress all help reduce heart disease risk.

Common signs include irritability, trouble sleeping, headaches, difficulty concentrating, and muscle tension.

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Ratings & Reviews

We're satisfying our customers every day since 1980.

Morning given the samples in Ayanavaram branch got the report by 12.30pm it's fast and efficient delivery by mail and want to tell about the staff they are very professional and friendly definitely I will recommend my friends and family to metropolis labs

Prabhu Gopalakrishnan. 5

The Home Service was excellent. Medical Technician took samples at 7:00am and returned at 9:30 after breakfast to take further samples. The results were sent by email at 6pm. The whole experience was excellent, professional and well organised. Will certainly recommend the home service for convenience

Chris Bessell 5

Excellent service - I was able to request services late at night (9pm) and the technician was at my door at 7:30am the next morning. The services were highly affordable and convenient. I live in the US and the US could learn a lot from Metropolis!!!

Sharmila Vaishnav. 5

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

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Precision
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  • Real-time tracking of phlebotomist arrival and report generation
  • Fully digital report delivery—view from mobile or desktop instantly
  • Continuous monitoring of turnaround times to ensure accuracy and speed
  • Dedicated support team to resolve any delays or queries quickly

Why Metropolis Healthcare?

Metropolis has been present for over 40 years in the market.

Metropolis has a team of 200 senior pathologists and over 2000 technicians delivering diagnostic solutions in the areas of routine, semi specialty and super specialty domains like Oncology, Neurology, Gynaecology, Nephrology and many more.

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Metropolis Healthcare is a leading diagnostic service provider in India. We are a team of dedicated professionals committed to ensuring you and your family receive the most accurate and timely healthcare solutions. We believe in making health care accessible, affordable and evidence-based. Our expert panel are equipped with the latest technology and manned by a certified team of over 4000+ technicians.

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