Short Description

NGS genetic DNA test detecets for variant and mutation detection in CASP8 gene for Autoimmune lymphoproliferative syndrome type 2B

PreTest Information

Clinical History of Patient who is going for CASP8 Gene Autoimmune lymphoproliferative syndrome type 2B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CASP8 Gene Autoimmune lymphoproliferative syndrome type 2B NGS Genetic DNA Test gene CASP8

Detail Description

CASP8 Gene Autoimmune Lymphoproliferative Syndrome Type 2B NGS Genetic DNA Test

Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder that affects the immune system. It is caused by mutations in genes that regulate the apoptosis (cell death) of immune cells. ALPS can lead to the accumulation of abnormal lymphocytes in the body, which can cause autoimmune disorders, such as autoimmune hemolytic anemia, thrombocytopenia, and neutropenia.

CASP8 gene is one of the genes that are associated with ALPS. The CASP8 gene provides instructions for making a protein called caspase-8, which is involved in the apoptosis of immune cells. Mutations in the CASP8 gene can result in the abnormal survival of immune cells, leading to the development of ALPS type 2B.

Symptoms of ALPS Type 2B

The symptoms of ALPS type 2B may vary from person to person. Some of the common symptoms include:

• Recurrent infections
• Enlarged lymph nodes, liver, and spleen
• Anemia
• Thrombocytopenia
• Neutropenia
• Prolonged fever
• Autoimmune disorders, such as autoimmune hemolytic anemia, immune thrombocytopenic purpura, and autoimmune neutropenia

Diagnosis of ALPS Type 2B

ALPS type 2B can be diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA test can be used to detect mutations in the CASP8 gene. NGS is a high-throughput method that can analyze multiple genes at the same time, making it a cost-effective and efficient way to diagnose ALPS type 2B.

The NGS genetic DNA test for ALPS type 2B typically costs around INR 20,000 in India.

Conclusion

ALPS type 2B is a rare genetic disorder that affects the immune system. It is caused by mutations in the CASP8 gene, which regulates the apoptosis of immune cells. The symptoms of ALPS type 2B may vary, but they often include recurrent infections, enlarged lymph nodes, and autoimmune disorders. NGS genetic DNA test can be used to diagnose ALPS type 2B, and it typically costs around INR 20,000 in India.

If you suspect that you or a loved one may have ALPS type 2B, consult a genetic counselor or a healthcare professional for further evaluation and testing.