• Who should consider this genetic panel?

Individuals with unexplained liver enlargement, persistent hypoglycemia, or a known family history of GSD.

• Is home collection available for this test?

Yes, we offer professional home blood collection services for your convenience and privacy while maintaining clinical standards.

Book GSD Genetic Deletion Panel | Lahalak Medical Platform

Lahalak Medical PlatformDifferentiate Care

Medical notice: this information is for education and service understanding. It is not a diagnosis or a recommendation for an unnecessary procedure.

About this service

An advanced genetic test analyzing deletions and duplications in GSD-related genes, providing a comprehensive evaluation for diagnosing inherited metabolic disorders and supporting clinical management decisions.

Importance of Genetic Testing

Accurately identifies genetic mutations causing Glycogen Storage Disease.
Differentiates between disease types to guide clinical management.
Provides critical information for family members regarding inheritance risks.

Targeted Genes in the Panel

G6PC gene associated with Type Ia GSD.
SLC37A4 gene associated with Type Ib GSD.
AGL and GBE1 genes linked to other GSD variants.
Detection of large deletions and duplications missed by standard sequencing.

When to Perform This Test

Symptoms such as hepatomegaly or chronic hypoglycemia.
To confirm a clinical diagnosis of metabolic disorders.
Preconception or prenatal risk assessment with a known family history.

What is included?

✓Blood sample collection
✓G6PC & SLC37A4 analysis
✓AGL & GBE1 analysis
✓Detailed technical report

Conditions and notices

Fasting is not required
Previous medical reports preferred
No fasting required

Frequently Asked Questions

Short answers to the FAQs published with this service.

• What is Glycogen Storage Disease?

A group of inherited disorders affecting how the body stores and uses sugar for energy, often impacting the liver and muscles.

• Why test for deletions and duplications?

To detect large genetic changes (loss or gain of gene segments) that standard sequencing might miss, ensuring a complete diagnosis.

• Is fasting required for this test?

No, fasting is not necessary for this genetic analysis; you can have the sample taken at any time.

• How is the sample collected?

A simple blood sample is drawn from a vein, typically a quick and routine procedure performed by a specialist.

Service resources and references

References and additional resources

Reference material and files associated with this service when available.

Scientific references

Saudi Society of Medical Genetics
Mayo Clinic Laboratories

Comprehensive GSD Genetic Panel

About this service

Importance of Genetic Testing

Targeted Genes in the Panel

When to Perform This Test

What is included?

Conditions and notices

Frequently Asked Questions

References and additional resources

Scientific references

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