Short Description

NGS genetic DNA test detecets for variant and mutation detection in ITGA3 gene for Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital

PreTest Information

Clinical History of Patient who is going for ITGA3 Gene Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ITGA3 Gene Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital NGS Genetic DNA Test gene ITGA3

Detail Description

ITGA3 Gene and Related Disorders

The ITGA3 gene, also known as integrin alpha 3, is responsible for encoding a protein that plays a crucial role in cell adhesion and migration. Mutations in this gene have been associated with a variety of disorders, including interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.

Interstitial Lung Disease

Interstitial lung disease is a group of disorders that affect the tissue and space around the air sacs of the lungs. Symptoms can include shortness of breath, coughing, and fatigue. While there are many causes of interstitial lung disease, mutations in the ITGA3 gene have been found to be a rare cause.

Nephrotic Syndrome

Nephrotic syndrome is a kidney disorder that results in high levels of protein in the urine, low levels of protein in the blood, and swelling in various parts of the body. Mutations in the ITGA3 gene have been linked to a rare form of nephrotic syndrome called Pierson syndrome, which is characterized by kidney disease, ocular abnormalities, and neurological symptoms.

Epidermolysis Bullosa, Congenital

Epidermolysis bullosa, congenital is a rare skin disorder that causes the skin to be fragile and prone to blistering. Symptoms can range from mild blistering to severe scarring and disfigurement. Mutations in the ITGA3 gene have been associated with a rare form of epidermolysis bullosa, congenital called junctional epidermolysis bullosa, which is characterized by blistering on the skin and mucous membranes.

NGS Genetic DNA Test

NGS Genetic DNA Test is a next-generation sequencing test that can detect mutations in the ITGA3 gene and other genes associated with interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital. The test is performed on a blood or saliva sample and costs INR 20,000. Results can help with diagnosis, prognosis, and treatment planning.

Symptoms and Diagnosis

Symptoms of ITGA3 gene-related disorders can vary depending on the specific disorder and severity of the mutations. Diagnosis typically involves a combination of clinical evaluation, imaging studies, biopsy, and genetic testing. If you suspect you or a loved one may have an ITGA3 gene-related disorder, consult with a healthcare professional for proper evaluation and testing.