Short Description

NGS genetic DNA test detecets for variant and mutation detection in CXCR4 gene for WHIM syndrome

PreTest Information

Clinical History of Patient who is going for CXCR4 Gene WHIM syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CXCR4 Gene WHIM syndrome NGS Genetic DNA Test gene CXCR4

Detail Description

CXCR4 Gene WHIM Syndrome NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

WHIM syndrome is a rare genetic disorder that affects the immune system and is caused by mutations in the CXCR4 gene. The CXCR4 gene provides instructions for making a protein called chemokine receptor type 4, which helps immune cells move to different parts of the body.

WHIM stands for warts, hypogammaglobulinemia, infections, and myelokathexis. The syndrome is characterized by recurrent infections, low levels of certain antibodies (hypogammaglobulinemia), and the retention of white blood cells (myelokathexis) in the bone marrow, which can lead to a decrease in the number of circulating white blood cells.

Symptoms of WHIM Syndrome

WHIM syndrome symptoms can vary from person to person and may include:

• Recurrent bacterial infections, especially of the respiratory and urinary tracts
• Recurrent viral infections, such as herpes and human papillomavirus (HPV)
• Recurrent fungal infections
• Low levels of certain antibodies, leading to an increased risk of infections
• Warts on the skin
• Anemia
• Decreased white blood cell count (neutropenia)
• Decreased platelet count (thrombocytopenia)

Diagnosis of WHIM Syndrome

WHIM syndrome is diagnosed through a combination of clinical symptoms, laboratory tests, and genetic testing. A complete blood count (CBC) may show low levels of white blood cells, red blood cells, and platelets. Blood tests may also show low levels of certain antibodies. Genetic testing can identify mutations in the CXCR4 gene.

CXCR4 Gene WHIM Syndrome NGS Genetic DNA Test Cost INR 20000

NGS (next-generation sequencing) genetic DNA testing can identify mutations in the CXCR4 gene that cause WHIM syndrome. This test is available at DNA Labs India and costs INR 20000. The test involves taking a small blood sample from the patient, which is then sent to the lab for analysis. Results are typically available within a few weeks.

Conclusion

WHIM syndrome is a rare genetic disorder that affects the immune system and is caused by mutations in the CXCR4 gene. Symptoms can vary from person to person but may include recurrent infections, low levels of certain antibodies, and the retention of white blood cells in the bone marrow. Diagnosis involves a combination of clinical symptoms, laboratory tests, and genetic testing. NGS genetic DNA testing for WHIM syndrome is available at DNA Labs India and costs INR 20000.

If you suspect that you or someone you know may have WHIM syndrome, it is important to speak with a healthcare professional for proper diagnosis and treatment.

For more information on genetic testing and DNA analysis services, visit DNA Labs India.