Short Description

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

PreTest Information

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

Detail Description

KRT14 Gene Epidermolysis Bullosa Simplex, Weber-Cockayne Type NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Epidermolysis bullosa simplex (EBS) is a group of inherited skin disorders that cause blisters on the skin and mucous membranes. EBS is caused by mutations in several genes, including the KRT14 gene. The Weber-Cockayne type of EBS is caused by mutations in the KRT14 gene and is inherited in an autosomal dominant pattern.

Symptoms

The symptoms of EBS Weber-Cockayne type include:

• Blisters on the skin, particularly on the hands and feet
• Blisters on the scalp and in the mouth
• Blisters that may become infected and lead to scarring
• Thickened skin on the palms and soles of the feet

The severity of symptoms can vary greatly, even among individuals with the same genetic mutation.

Diagnosis

EBS Weber-Cockayne type can be diagnosed through genetic testing. A sample of DNA is obtained, typically through a blood sample, and analyzed for mutations in the KRT14 gene. This type of testing is known as next-generation sequencing (NGS) genetic DNA testing.

NGS genetic DNA testing is a highly accurate method of testing for genetic mutations. It can detect even small mutations in the DNA sequence. The test results can help confirm a diagnosis of EBS Weber-Cockayne type and determine the specific genetic mutation causing the condition.

Cost

The cost of NGS genetic DNA testing for the KRT14 gene varies depending on the laboratory performing the test. At DNA Labs India, the cost for this test is INR 20,000.

It is important to note that insurance coverage for genetic testing varies widely. Some insurance plans may cover the cost of testing, while others may not. It is important to check with your insurance provider to determine coverage.

Conclusion

EBS Weber-Cockayne type is a rare genetic disorder that can cause significant skin and mucosal blistering. NGS genetic DNA testing for the KRT14 gene can help confirm a diagnosis and determine the specific genetic mutation causing the condition. At DNA Labs India, this test is available for a cost of INR 20,000. If you suspect you or a loved one may have EBS Weber-Cockayne type, talk to your healthcare provider about genetic testing options.

At DNA Labs India, we are committed to providing accurate and affordable genetic testing services to our clients. Contact us today to learn more.

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, Weber-Cockayne type NGS Genetic DNA Test