Short Description

NGS genetic DNA test detecets for variant and mutation detection in KRT1 gene for Epidermolytic hyperkeratosis

PreTest Information

Clinical History of Patient who is going for KRT1 Gene Epidermolytic hyperkeratosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KRT1 Gene Epidermolytic hyperkeratosis NGS Genetic DNA Test gene KRT1

Detail Description

KRT1 Gene Epidermolytic Hyperkeratosis NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Epidermolytic hyperkeratosis (EHK) is a rare genetic skin disorder that is caused by mutations in the KRT1 gene. This gene provides instructions for making a protein called keratin 1, which is essential for the normal functioning of the skin. Mutations in the KRT1 gene can lead to the production of abnormal keratin 1, which causes thick, scaly, and blistering skin.

Symptoms

The symptoms of EHK usually appear at birth or in early infancy. The most common symptoms include:

• Thick, scaly, and blistering skin
• Redness and inflammation
• Blisters that rupture and form crusts
• Increased risk of infections
• Pain and itching

Diagnosis

EHK is usually diagnosed based on the symptoms and a physical examination. However, a genetic test can confirm the diagnosis and identify the specific mutation in the KRT1 gene that is causing the disorder.

The most commonly used genetic test for EHK is next-generation sequencing (NGS). This test can sequence the entire KRT1 gene and identify any mutations that may be present. The cost of this test is INR 20,000 in DNA Labs India.

NGS is a highly accurate and reliable test that can detect even small mutations in the KRT1 gene. It is a non-invasive test that requires only a small blood or saliva sample. The results of the test can be used to confirm the diagnosis, provide information about the severity of the disorder, and help with treatment planning.

Conclusion

EHK is a rare genetic skin disorder that can cause significant physical and emotional distress. Genetic testing, such as NGS, can confirm the diagnosis and provide valuable information about the disorder. DNA Labs India offers NGS testing for EHK at an affordable cost of INR 20,000. If you or someone you know is experiencing symptoms of EHK, it is important to seek medical attention and consider genetic testing to confirm the diagnosis and develop an appropriate treatment plan.

For more information about genetic testing for EHK or other genetic disorders, contact DNA Labs India today.

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 KRT1 Gene Epidermolytic hyperkeratosis NGS Genetic DNA Test