Short Description

NGS genetic DNA test detecets for variant and mutation detection in ERCC6L2 gene for Bone marrow failure syndrome type 2

PreTest Information

Clinical History of Patient who is going for ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic DNA Test gene ERCC6L2

Detail Description

ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

Bone marrow failure syndrome is a rare genetic disorder that affects the production of blood cells in the bone marrow. ERCC6L2 gene bone marrow failure syndrome type 2 is a subtype of this disorder that is caused by mutations in the ERCC6L2 gene.

Symptoms

The symptoms of ERCC6L2 gene bone marrow failure syndrome type 2 include:

• Anemia
• Thrombocytopenia
• Neutropenia
• Pancreatic insufficiency
• Growth retardation
• Developmental delay
• Cognitive impairment
• Hypogonadism

Diagnosis

ERCC6L2 gene bone marrow failure syndrome type 2 can be diagnosed through genetic testing, specifically next-generation sequencing (NGS) genetic DNA testing. This type of testing can identify mutations in the ERCC6L2 gene.

Other diagnostic tests that may be performed include:

• Complete blood count (CBC)
• Bone marrow biopsy
• Imaging tests such as X-rays or CT scans

Cost

The cost of the ERCC6L2 gene bone marrow failure syndrome type 2 NGS genetic DNA test in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and location.

Conclusion

ERCC6L2 gene bone marrow failure syndrome type 2 is a rare genetic disorder that affects the production of blood cells in the bone marrow. Symptoms include anemia, thrombocytopenia, neutropenia, pancreatic insufficiency, growth retardation, developmental delay, cognitive impairment, and hypogonadism. Diagnosis is typically done through next-generation sequencing genetic DNA testing, and the cost of the test in India is approximately INR 20,000.

If you suspect that you or a loved one may have ERCC6L2 gene bone marrow failure syndrome type 2, it is important to seek medical attention and undergo appropriate diagnostic testing.