Short Description

NGS genetic DNA test detecets for variant and mutation detection in DSP gene for Epidermolysis bullosa, lethal acantholytic

PreTest Information

Clinical History of Patient who is going for DSP Gene Epidermolysis bullosa, lethal acantholytic NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DSP Gene Epidermolysis bullosa, lethal acantholytic NGS Genetic DNA Test gene DSP

Detail Description

DSP Gene Epidermolysis Bullosa: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Epidermolysis bullosa (EB) is a rare genetic disorder that affects the skin and mucous membranes. It is characterized by the formation of blisters and erosions on the skin, which can lead to scarring and disfigurement. There are several types of EB, each with different genetic mutations and clinical presentations. One of the most severe forms of EB is lethal acantholytic EB, which is caused by mutations in the DSP gene. In this blog, we will discuss the symptoms and diagnosis of DSP gene EB, as well as the cost of NGS genetic DNA testing in India.

Symptoms of DSP Gene Epidermolysis Bullosa

DSP gene EB is a rare and severe form of EB that is usually fatal in infancy. Infants born with DSP gene EB may have blisters and erosions on their skin and mucous membranes, as well as other symptoms such as:

• Difficulty breathing due to blisters in the respiratory tract
• Difficulty feeding due to blisters in the mouth and throat
• Increased risk of infection due to open wounds
• Dehydration and electrolyte imbalances due to fluid loss from blisters
• Delayed growth and development due to the metabolic demands of wound healing

These symptoms can be life-threatening and require immediate medical attention. DSP gene EB is usually diagnosed in infancy or early childhood, based on the clinical presentation and genetic testing.

Diagnosis of DSP Gene Epidermolysis Bullosa

The diagnosis of DSP gene EB is based on clinical presentation, family history, and genetic testing. If a newborn or infant presents with blisters and erosions on their skin and mucous membranes, a dermatologist may suspect a diagnosis of EB. A family history of EB may also be suggestive of a genetic diagnosis.

To confirm the diagnosis of DSP gene EB, genetic testing is required. This can be done through Next-Generation Sequencing (NGS) DNA testing, which can identify mutations in the DSP gene that are associated with EB. NGS testing is a highly accurate and sensitive method of genetic testing, which can detect mutations in multiple genes simultaneously.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing in India can vary depending on the laboratory and the specific test ordered. However, the cost of NGS genetic testing for DSP gene EB is typically around INR 20,000. This cost may be covered by insurance in some cases, depending on the policy and the specific laboratory.

NGS genetic testing for DSP gene EB is an important diagnostic tool for infants and children with suspected EB. Early diagnosis and intervention can improve outcomes and quality of life for these children and their families.

Conclusion

DSP gene EB is a rare and severe form of EB that is usually fatal in infancy. It is caused by mutations in the DSP gene, which can be identified through NGS genetic DNA testing. The symptoms of DSP gene EB can be life-threatening and require immediate medical attention. NGS genetic testing for DSP gene EB is an important diagnostic tool for infants and children with suspected EB, and can improve outcomes and quality of life for these children and their families.

If you suspect that your child may have DSP gene EB or another form of EB, it is important to seek medical attention immediately. A dermatologist or genetic counselor can provide further information and guidance on diagnosis and treatment.