Short Description

NGS genetic DNA test detecets for variant and mutation detection in KRT14 gene for Epidermolysis bullosa simplex, Dowling-Meara type

PreTest Information

Clinical History of Patient who is going for KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic DNA Test gene KRT14

Detail Description

KRT14 Gene Epidermolysis Bullosa Simplex, Dowling-Meara Type: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Epidermolysis bullosa simplex (EBS) is a rare genetic disorder characterized by the formation of blisters on the skin and mucous membranes. This condition is caused by mutations in genes that code for proteins that help to anchor the layers of the skin together. One of these genes is the KRT14 gene, which codes for the keratin 14 protein.

The Dowling-Meara type of EBS is caused by mutations in the KRT14 gene. This type of EBS is inherited in an autosomal dominant pattern, which means that only one copy of the mutated gene is needed to cause the disease. Symptoms of Dowling-Meara type EBS usually appear in infancy or early childhood, and may include:

• Formation of blisters on the skin, especially on the hands and feet
• Blisters that may be painful or itchy
• Formation of calluses and thickened skin over time
• Nail abnormalities, such as thickened or deformed nails

Diagnosis of Dowling-Meara type EBS involves a physical exam and a skin biopsy. In a skin biopsy, a small piece of skin is removed and examined under a microscope to look for abnormalities in the skin layers. Genetic testing is also available to confirm the diagnosis and to identify the specific mutation in the KRT14 gene.

NGS (next-generation sequencing) genetic DNA testing is a powerful tool for identifying genetic mutations associated with EBS and other genetic disorders. This type of testing can analyze large amounts of DNA in a short amount of time, making it faster and more efficient than traditional DNA sequencing methods. The cost of NGS genetic DNA testing for Dowling-Meara type EBS in India is typically around INR 20,000.

In conclusion, Dowling-Meara type EBS is a rare genetic disorder caused by mutations in the KRT14 gene. Symptoms include the formation of blisters on the skin, calluses, and nail abnormalities. Diagnosis involves a physical exam, skin biopsy, and genetic testing. NGS genetic DNA testing is an effective tool for identifying the specific mutation in the KRT14 gene, and the cost of this test in India is typically around INR 20,000.

If you suspect that you or a loved one may have Dowling-Meara type EBS, it is important to speak with a healthcare provider and undergo appropriate testing and diagnosis.

For more information on genetic testing and DNA labs in India, visit DNA Labs India.

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 KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic DNA Test