Epidermolysis bullosa dystrophica (EBD) is a rare genetic disorder that causes the skin to be very fragile and to blister easily. Among the genes associated with this condition, the MMP1 gene has been identified as a significant modifier, especially in its autosomal recessive form. Understanding the symptoms and the genetic aspects of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for this modifier, providing essential insights for affected individuals and their families.
Symptoms of MMP1 Gene Epidermolysis Bullosa Dystrophica Autosomal Recessive Modifier
Epidermolysis bullosa dystrophica, influenced by the MMP1 gene, presents with a range of symptoms that can significantly impact the quality of life. The severity and specific symptoms can vary from person to person, but commonly include:
- Skin fragility: Individuals with this condition often have skin that tears or blisters in response to minor injuries or friction.
- Blistering: Blisters may appear on the skin and mucous membranes, such as in the mouth or esophagus, leading to feeding difficulties or dysphagia.
- Scarring: Repeated blistering and healing can lead to scarring, which may cause skin deformities or fusion of fingers and toes (pseudosyndactyly).
- Nail abnormalities: Nails may become thickened, misshapen, or lost entirely due to repeated blistering.
- Dental issues: Teeth can be affected by enamel hypoplasia, leading to increased risk of cavities and other dental problems.
- Hair loss (alopecia): Scalp and body hair may become thin or fall out entirely in some cases.
These symptoms can appear at birth or during early childhood and may worsen with age. The presence and severity of symptoms can provide important clues for the need for genetic testing and diagnosis.
Genetic Test for MMP1 Gene Modifier of Epidermolysis Bullosa Dystrophica
DNA Labs UAE offers a specialized genetic test to identify modifications in the MMP1 gene that can influence the severity of epidermolysis bullosa dystrophica. This test is crucial for:
- Confirming the diagnosis of EBD, especially in cases where symptoms are present but the specific genetic cause is unclear.
- Understanding the potential severity of the condition, allowing for better management and treatment planning.
- Providing information for family planning, offering insights into the risk of passing the condition to future generations.
The test involves collecting a small sample of blood or saliva from the affected individual. The sample is then analyzed in the laboratory to detect any modifications in the MMP1 gene that are associated with epidermolysis bullosa dystrophica. The results of this test can provide valuable information for managing the condition and improving the quality of life for those affected.
Cost of the Genetic Test
The cost of the MMP1 gene modifier of epidermolysis bullosa dystrophica autosomal recessive genetic test at DNA Labs UAE is 4400 AED. This cost includes the collection of the sample, laboratory analysis, and a comprehensive report of the findings. It’s important to note that the cost of the test may be covered by some insurance plans, and financial assistance may be available for those who qualify.
For more information about the test and to schedule an appointment, please visit DNA Labs UAE.
Understanding the genetic underpinnings of epidermolysis bullosa dystrophica is crucial for effective management and treatment. The MMP1 gene modifier test offered by DNA Labs UAE provides essential insights that can guide treatment and support for individuals and families affected by this challenging condition.
