Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRKCD gene for Autoimmune lymphoproliferative syndrome type 3

PreTest Information

Clinical History of Patient who is going for PRKCD Gene Autoimmune lymphoproliferative syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRKCD Gene Autoimmune lymphoproliferative syndrome type 3 NGS Genetic DNA Test gene PRKCD

Detail Description

PRKCD Gene Autoimmune Lymphoproliferative Syndrome Type 3 NGS Genetic DNA Test Cost INR 20,000 Symptoms Diagnosis

Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder characterized by an overactive immune system that can attack the body's own cells and tissues. ALPS is caused by mutations in genes that regulate cell death, leading to the accumulation of abnormal lymphocytes in the body. One of the genes associated with ALPS is PRKCD, which codes for a protein that helps regulate the immune system.

Symptoms of ALPS Type 3

The symptoms of ALPS can vary widely, but they often include enlarged lymph nodes, anemia, low platelet counts, and an increased risk of developing autoimmune diseases such as lupus or rheumatoid arthritis. In ALPS type 3, the symptoms are typically more severe and can include recurrent infections, hepatosplenomegaly (enlarged liver and spleen), and an increased risk of lymphoma.

Diagnosis

ALPS is diagnosed through a combination of clinical evaluation, blood tests, and genetic testing. A definitive diagnosis of ALPS type 3 requires genetic testing to identify mutations in the PRKCD gene.

NGS Genetic DNA Test

Next-generation sequencing (NGS) is a powerful tool for genetic testing that can sequence large portions of the genome at once. NGS can be used to identify mutations in the PRKCD gene that are associated with ALPS type 3. The cost of an NGS genetic DNA test for ALPS type 3 is typically around INR 20,000.

Conclusion

ALPS type 3 is a rare and potentially serious genetic disorder that can be diagnosed through a combination of clinical evaluation, blood tests, and genetic testing. NGS genetic DNA testing is a powerful tool for identifying mutations in the PRKCD gene that are associated with ALPS type 3, and it typically costs around INR 20,000. If you or a loved one are experiencing symptoms of ALPS, it is important to speak with a healthcare provider and consider genetic testing to determine the underlying cause of the condition.