Short Description

NGS genetic DNA test detecets for variant and mutation detection in DSP gene for Skin fragility-woolly hair syndrome

PreTest Information

Clinical History of Patient who is going for DSP Gene Skin fragility-woolly hair syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DSP Gene Skin fragility-woolly hair syndrome NGS Genetic DNA Test gene DSP

Detail Description

DSP Gene Skin Fragility-Woolly Hair Syndrome NGS Genetic DNA Test

DSG1 gene encodes for desmoglein 1, a protein that helps to maintain the integrity of the skin. Mutations in the DSP gene cause skin fragility-woolly hair syndrome, an autosomal recessive disorder characterized by fragile skin, woolly hair, and palmoplantar keratoderma (thickening of skin on the palms and soles).

NGS genetic DNA testing is a diagnostic tool used to identify mutations in the DSP gene. The test costs INR 20,000.

Symptoms of Skin Fragility-Woolly Hair Syndrome

Patients with skin fragility-woolly hair syndrome have fragile skin that blisters easily, especially on the hands and feet. The blisters may rupture and leave behind open sores that are prone to infection. The skin may also be hyper-pigmented or hypopigmented, and there may be areas of scarring.

Woolly hair is another characteristic feature of the syndrome. The hair is tightly curled and resembles wool, hence the name. The hair may be brittle and prone to breakage, leading to hair loss.

Palmoplantar keratoderma is a thickening of the skin on the palms and soles. The skin may become rough and scaly, and may crack and bleed. This can make walking and using the hands difficult.

Diagnosis of Skin Fragility-Woolly Hair Syndrome

Diagnosis of skin fragility-woolly hair syndrome is based on the clinical features and confirmed by genetic testing. A skin biopsy may be performed to look for abnormalities in the skin structure.

NGS genetic DNA testing is a diagnostic tool used to identify mutations in the DSP gene. The test can detect mutations in both copies of the gene, confirming a diagnosis of skin fragility-woolly hair syndrome.

Cost of NGS Genetic DNA Testing

The cost of NGS genetic DNA testing for skin fragility-woolly hair syndrome is INR 20,000. This cost may vary depending on the laboratory and location.

Conclusion

Skin fragility-woolly hair syndrome is a rare genetic disorder characterized by fragile skin, woolly hair, and palmoplantar keratoderma. NGS genetic DNA testing is a diagnostic tool used to identify mutations in the DSP gene and confirm a diagnosis. The test costs INR 20,000 and may vary depending on the laboratory and location.

If you suspect that you or a loved one may have skin fragility-woolly hair syndrome, it is important to seek medical attention and speak with a genetic counselor. They can provide information on testing, treatment options, and support resources.

Contact DNA Labs India for NGS Genetic DNA Testing for Skin Fragility-Woolly Hair Syndrome today.