Name: GBED Glycogen Branching Enzyme Deficiency
Brand: Equigerminal
Price: 35.0 EUR

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GBED Glycogen Branching Enzyme Deficiency

DNA test DNA test for the Glycogen Branching Enzyme Deficiency (GBED). This DNA test verifies the presence of the recessive GBED...

€35.00

Sample Requirements

30 to 40 - hair roots - envelope or 5 mL - blood - K3 EDTA tube

Send your sample by regular mail or express delivery to:

Equigerminal Lab HIESE
Rua da Quinta do Sobreiro Nº25
3230-343 Penela, Portugal

Turnaround Time

2 to 5 working days

About the test

The Glycogen Branching Enzyme Deficiency (GBED) DNA Test detects the recessive mutation responsible for Glycogen Branching Enzyme Deficiency, a fatal inherited disorder affecting glycogen metabolism.

GBED is inherited as an autosomal recessive trait. Carrier horses are clinically normal but can pass the mutation to their offspring. Foals inheriting two copies of the mutation are unable to store glycogen properly, resulting in abortion, stillbirth, or death shortly after birth.

DNA testing enables breeders to identify carriers and make informed breeding decisions to prevent affected foals.

Why test?

Testing for GBED allows breeders to:

Identify clinically normal carrier horses.
Prevent carrier-to-carrier matings.
Reduce the risk of abortions and affected foals.
Confirm suspected cases of GBED in foals.
Support responsible breeding programmes.

GBED is most commonly found in Quarter Horses, Paint Horses, and related breeds.

How it works

🛒 Purchase the Test: Select and buy the test online.

📧 Receive Instructions: After payment confirmation, receive instructions for sample collection.

✨ Sample Collection: Collect 30–40 hair roots or ask your veterinarian to collect a blood sample.

📄 Download Submission Form: Download the printable submission form.

📮 Send Samples: Send to:

Equigerminal Lab HIESE
Rua da Quinta do Sobreiro Nº25
3230-343 Penela, Portugal

📄 Receive Results: Your DNA certificate will be sent by email.

Results

The DNA test verifies the presence of the recessive GBED alleles and presents results as one of the following:

N/ - Negative for GBED. Absence of the defective allele responsible for GBED.
GBED/N - Carrier - Positive heterozygous for GBED. Presence of one copy of the allele responsible for GBED.The horse is a carrier for GBED and can pass on a copy of GBED allele to their progeny when bred.
GBED/ -Affected - Positive Homozygous for GBED. Presence of two copies of the allele responsible for GBED.The animal is affected by GBED disorder. GBED is lethal causing abortion and/orneonatal mortality.

Additional information

Glycogen Branching Enzyme Deficiency (GBED) is caused by a mutation affecting the enzyme responsible for glycogen synthesis. Without normal glycogen storage, affected foals cannot produce sufficient energy to support vital organs such as the muscles, heart and brain.

The disease is always fatal. Many affected pregnancies end in abortion, while foals that are born alive usually die within the first weeks of life. Clinical signs include weakness, inability to stand, low body temperature, contracted muscles, seizures and sudden death.

Carrier horses remain completely healthy, making DNA testing the only reliable method for identifying carriers before breeding.

GBED has the highest prevalence in Quarter Horses, Paint Horses, and related breeds, where carrier frequencies have been reported at approximately 7–8%.

REFERENCES

Tryon RC, Penedo MC, McCue ME, Valberg SJ, Mickelson JR, Famula TR, Wagner ML, Jackson M, Hamilton MJ, Nooteboom S, Bannasch DL. Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. J Am Vet Med Assoc. 2009 Jan 1;234(1):120-5. doi: 10.2460/javma.234.1.120. PubMed PMID: 19119976.DOI: 10.2460/javma.234.1.120

Wagner ML, Valberg SJ, Ames EG, Bauer MM, Wiseman JA, Penedo MC, Kinde H, Abbitt B, Mickelson JR. Allele frequency and likely impact of the glycogen branching enzyme deficiency gene in Quarter Horse and Paint Horse populations. J Vet Intern Med. 2006 Sep-Oct;20(5):1207-11. PubMed PMID: 17063718.DOI: 10.1892/0891-6640(2006)20[1207:afalio]2.0.co;2

FAQs

What is GBED?

GBED (Glycogen Branching Enzyme Deficiency) is a fatal inherited disorder that prevents normal glycogen storage, leading to severe energy deficiency.

Can carrier horses develop the disease?

No. Carrier horses (N/GBED) are clinically healthy but can pass the mutation to their offspring.

How is GBED inherited?

GBED follows an autosomal recessive inheritance pattern. An affected foal must inherit one mutated copy from each parent.

Which breeds should be tested?

Testing is strongly recommended for Quarter Horses, Paint Horses, and related breeds because of the relatively high carrier frequency.

Why should breeders perform this test?

DNA testing identifies carriers before breeding, allowing informed mating decisions that prevent abortions and the birth of affected foals while preserving valuable bloodlines.