Short Description

NGS genetic DNA test detecets for variant and mutation detection in VPS45 gene for Neutropenia, severe congenital type 5, autosomal recessive

PreTest Information

Clinical History of Patient who is going for VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive NGS Genetic DNA Test gene VPS45

Detail Description

VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive NGS Genetic DNA Test

Neutropenia is a condition characterized by an abnormally low number of neutrophils, which are a type of white blood cell that helps the body fight infections. Severe congenital neutropenia (SCN) is a rare form of neutropenia that is present at birth. It is caused by mutations in several different genes, including the VPS45 gene.

VPS45 gene neutropenia, severe congenital type 5, autosomal recessive is caused by mutations in the VPS45 gene. This condition is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The VPS45 gene provides instructions for making a protein that is involved in the transport of proteins within cells.

Symptoms of VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive

The symptoms of VPS45 gene neutropenia, severe congenital type 5, autosomal recessive can vary from person to person. Some individuals may have no symptoms at all, while others may experience recurrent infections, fever, mouth ulcers, and other signs of an impaired immune system. Additionally, individuals with this condition may be at an increased risk of developing leukemia or other types of cancer.

Diagnosis of VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive

Diagnosis of VPS45 gene neutropenia, severe congenital type 5, autosomal recessive can be made through genetic testing. Next-generation sequencing (NGS) genetic DNA testing can detect mutations in the VPS45 gene that are associated with this condition. This test can be performed on a blood or saliva sample and typically costs around INR 20,000.

Treatment of VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive

Treatment for VPS45 gene neutropenia, severe congenital type 5, autosomal recessive typically involves managing the symptoms of the condition. This may include antibiotics to treat infections, growth factors to stimulate the production of white blood cells, and bone marrow transplants in severe cases. Additionally, individuals with this condition should receive regular monitoring for the development of leukemia or other types of cancer.

Conclusion

VPS45 gene neutropenia, severe congenital type 5, autosomal recessive is a rare genetic condition that can cause an impaired immune system and an increased risk of developing leukemia or other types of cancer. Diagnosis of this condition can be made through NGS genetic DNA testing, which typically costs around INR 20,000. Treatment involves managing the symptoms of the condition and regular monitoring for the development of cancer.

If you suspect that you or a loved one may have VPS45 gene neutropenia, severe congenital type 5, autosomal recessive, it is important to speak with a healthcare professional. They can provide guidance on genetic testing and treatment options.

For more information on genetic testing and DNA labs in India, visit DNA Labs India today.