Epidermolysis Bullosa Gene Panel Test Cost & Procedure

Anyone with a personal or family history of EB may benefit from this panel. Genetic testing may be used to confirm the diagnosis of EB in patients who experience unexplained blisters, itchy skin, and nail abnormalities.

Reasons to order a genetic test

1. Confirmation of the clinical diagnosis
2. Differential diagnosis of the various types and subtypes of epidermolysis bullosa and other phenotypically and genetically connected disorders
3. Early identification of known familial mutations
4. Genetic advice A series of hereditary illnesses known as inherited epidermolysis bullosa (EB is characterised by skin brittleness and blistering on the skin and mucous membranes in response to slight trauma or friction. Clinically and genetically, EB is quite diverse.

Types

There are four basic categories and several subtypes, and each type may either mildly or seriously impact a person.

There are four main classifications of EB

• simplex (intraepidermal)
• Junctional (inside the lamina lucida of the basement membrane)
• Dystrophic (below the basement membrane)
• Kindler (below the basement membrane) (mixed skin cleavage pattern)

The clinical symptoms, genetic inheritance pattern, expression of the changed protein, and other factors are considered when stratifying EB into different subtypes (there are currently 34 subtypes). The typical phenotype of the various forms is associated with the changed gene. The test includes a variety of other genetically/phenotypically related illnesses and the known genetic origins of EB types/subtypes.

What advantages could there be for my patient?

• An EB diagnosis can be validated by genetic testing.
• When EB is confirmed by genetic testing, patients may benefit from more specialised care and quicker treatment to reduce trauma and heal blisters effectively.
• Additionally, it can link qualified patients with clinical studies and novel therapies.
• Genetic testing can also determine the likelihood of other family members getting EB.

Procedure

For epidermolysis bullosa, genetic testing can

• Identify or validate the proper diagnosis
• Determine the dangers of other symptoms that are associated.
• Help to alter age-appropriate play to reduce trauma and lead to more individualized care and symptom control
• Family members should be made aware of their risk factors.
• Family planning choices The genes on the panel have been meticulously chosen based on our experience, mutation databases, and scientific literature.