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Accurate Test Results for MMP1 Gene Epidermolysis bullosa dystrophica, autosomal recessive, modifier of NGS Genetic DNA Test
MMP1 Gene Epidermolysis bullosa dystrophica, autosomal recessive, modifier of NGS Genetic DNA Test Cost 20000 Rs
MMP1 Gene Epidermolysis bullosa dystrophica, autosomal recessive, modifier of NGS Genetic DNA Test Details
MMP1 Gene Epidermolysis Bullosa Dystrophica: Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India
Epidermolysis bullosa dystrophica is a rare genetic skin disorder that is caused by a mutation in the MMP1 gene. This disorder is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene, one from each parent. The MMP1 gene is responsible for encoding an enzyme called collagenase, which is important for the formation and maintenance of healthy skin tissue. When the MMP1 gene is mutated, collagen production is disrupted, resulting in fragile and blister-prone skin.
Symptoms of Epidermolysis Bullosa Dystrophica
The symptoms of epidermolysis bullosa dystrophica can range from mild to severe, depending on the specific mutation in the MMP1 gene and other genetic and environmental factors. Some common symptoms include:
- Frequent blistering and peeling of the skin
- Delayed wound healing
- Scarring and skin thickening
- Difficulty swallowing and breathing (in severe cases)
Individuals with epidermolysis bullosa dystrophica may also be at increased risk for infections, dehydration, and malnutrition due to the constant damage to their skin.
Diagnosis of Epidermolysis Bullosa Dystrophica
Diagnosis of epidermolysis bullosa dystrophica typically involves a physical examination and a review of the patient's medical history. A skin biopsy may also be performed to examine the structure of the skin tissue and determine the specific type of epidermolysis bullosa dystrophica. Genetic testing can also be used to confirm a diagnosis and identify the specific mutation in the MMP1 gene that is causing the disorder.
NGS Genetic DNA Test Cost in India
NGS genetic DNA testing is a powerful tool for identifying mutations in the MMP1 gene and other genes that may be associated with epidermolysis bullosa dystrophica. This type of testing uses next-generation sequencing technology to analyze the patient's DNA and identify any mutations or variations that may be present.
The cost of NGS genetic DNA testing in India can vary depending on the specific test and the laboratory performing the test. On average, the cost of an NGS genetic DNA test for epidermolysis bullosa dystrophica in India is around INR 20,000.
Conclusion
Epidermolysis bullosa dystrophica is a rare genetic skin disorder that can have a significant impact on an individual's quality of life. Early diagnosis and genetic testing can help to identify the specific mutation in the MMP1 gene and other genes that may be contributing to the disorder. With this information, healthcare providers can develop targeted treatment plans and provide patients with the support they need to manage their symptoms and maintain their skin health.
NGS genetic DNA testing is a powerful tool for identifying mutations in the MMP1 gene and other genes associated with epidermolysis bullosa dystrophica. While the cost of these tests can vary, they can provide patients and healthcare providers with valuable information that can improve patient outcomes and quality of life.
Are you or a loved one experiencing symptoms of epidermolysis bullosa dystrophica? Contact DNA Labs India to learn more about our NGS genetic DNA testing services and how we can help you get the answers you need.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for MMP1 Gene Epidermolysis bullosa dystrophica, autosomal recessive, modifier of NGS Genetic DNA Test
