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Glycogen Storage Disorder Gene Panel
₹ 19400
Glycogen Storage Disorder Gene Panel
₹ 19400 ₹ 19400

Glycogen Storage Disorder Gene Panel

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

Glycogen Storage Disorder Gene Panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Glycogen Storage Disorder Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
Around 4 weeks
Purpose
To identify genetic mutations causing glycogen storage disorders

What Is the Glycogen Storage Disorder Gene Panel?

The Glycogen Storage Disorder Gene Panel is a genetic blood test used to diagnose inherited metabolic disorders that affect how the body stores and breaks down glycogen. Glycogen storage disorders are caused by enzyme defects that disrupt normal glucose regulation, leading to liver, muscle, or multisystem involvement.

This test analyses multiple genes known to cause different types of glycogen storage disorders, helping your doctor confirm the diagnosis and plan appropriate management.

What Does the Glycogen Storage Disorder Gene Panel Measure?

This test evaluates genes involved in glycogen synthesis and breakdown:

  • Detection of pathogenic genetic variants causing glycogen storage disorders
  • Identification of the specific type of glycogen storage disorder
  • Differentiation from other metabolic or liver conditions
  • Support for dietary planning and long term metabolic management

Glycogen Storage Disorder Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Glycogen Storage Disorder Gene Panel?

Your doctor may recommend this test if you or your child has:

  • Enlarged liver or spleen
  • Low blood sugar episodes
  • Muscle weakness or exercise intolerance
  • Growth delay or poor weight gain
  • Unexplained liver disease or metabolic abnormalities

Who Should Get a Glycogen Storage Disorder Gene Panel?

This test is advised for:

  • Infants or children with suspected metabolic disorders
  • Individuals with unexplained hypoglycaemia or hepatomegaly
  • Patients with muscle related symptoms suggestive of metabolic myopathy
  • Families with a known history of glycogen storage disorders
  • Couples seeking genetic counselling or prenatal assessment

Why Is the Glycogen Storage Disorder Gene Panel Done?

The test helps confirm a genetic diagnosis, enabling early dietary interventions, prevention of metabolic crises, and appropriate long term care.

Importance of the Glycogen Storage Disorder Gene Panel

A confirmed diagnosis allows personalised dietary planning, timely treatment, and monitoring to prevent complications such as growth failure, liver damage, or muscle weakness. It also helps families understand inheritance patterns and future risks.

Glycogen Storage Disorder Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Glycogen Storage Disorder Gene Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Glycogen Storage Disorder 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 next generation sequencing 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 Glycogen Storage Disorder Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Glycogen Storage Disorder Gene Panel. This service saves time, reduces travel, and ensures professional sample handling while maintaining strict quality standards.

In How Much Time Will I Get the Glycogen Storage Disorder Gene Panel Report?

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

Where Can I See or Get Glycogen Storage Disorder Gene Panel Results?

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

Interpreting Glycogen Storage Disorder Gene Panel Results

What Your Glycogen Storage Disorder Gene Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
GSD related genes No pathogenic variant detected Presence of a glycogen storage disorder Symptoms may be due to non genetic or currently undetectable causes

Understanding Abnormal Glycogen Storage Disorder Gene Panel Results by Gene Group

Gene Group What a Pathogenic Variant May Indicate
G6PC, SLC37A4 Liver related glycogen storage disorders
PYGM, PFKM Muscle related glycogen storage disorders
GAA Pompe disease
GBE1 Glycogen branching enzyme deficiency

How Should You Prepare for a Glycogen Storage Disorder Gene Panel?

This test requires minimal preparation from your side:

  • No fasting required: You can eat and drink normally
  • Continue medications: Do not stop prescribed medicines unless advised by your doctor
  • Inform your doctor: Share symptoms, growth history, and previous test results
  • Complete forms: Ensure the test requisition form and genetic history details are provided
  • Normal hydration: Drink water as you usually would before sample collection

How Is a Glycogen Storage Disorder 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 an antiseptic
  • Sample Collection: About 3 to 5 ml of blood is drawn into an EDTA vacutainer using a sterile needle
  • Completion: The needle is removed, and a bandage is applied
  • Processing: The sample is analysed using next generation sequencing to identify genetic variants

Conditions That May Affect Glycogen Storage Disorder Gene Panel Accuracy

Certain patient related factors may influence result interpretation:

  • Incomplete clinical or family history
  • Mosaic genetic variants present at low levels
  • Genetic variants outside the tested gene panel
  • Early stage disease with subtle genetic expression

Diseases That the Glycogen Storage Disorder Gene Panel Can Help Detect

  • Glycogen storage disorders type I to IX
  • Metabolic liver disorders
  • Inherited metabolic myopathies

References

  1. Chou J.Y., Jun H.S., Mansfield B.C. (2010). Glycogen storage disease type I and G6PC gene mutations. Journal of Inherited Metabolic Disease, 33(4), 511–522. PMID: 20571898
  2. Chen Y.T., Weinstein D.A. (2016). Glycogen storage diseases: Diagnosis, treatment and outcome. Translational Science of Rare Diseases, 1(1), 45–72. PMID: 29744364
  3. Kishnani P.S., Austin S.L., Arn P., et al. (2014). Glycogen storage disease type III diagnosis and management guidelines. Genetics in Medicine, 12(7), 446–463. PMID: 20445482

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
  • 98% on time collections with a 60 minutes promise
  • 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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About Us

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.

In diagnostic services, we have more than three decades of experience servicing diverse stakeholders health advantage packages for men, women and seniors, genetic fitness & corporation in over 650+ tests like Oncology, Neurology, Gynaecology, Haematology, and many more. Our diagnostic services are located in leading doctors and clinics and serve over 15+ cities in India.

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