Short Description

NGS genetic DNA test detecets for variant and mutation detection in MAFB gene for Multicentric carpotarsal osteolysis syndrome

PreTest Information

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

Detail Description

MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome NGS Genetic DNA Test

About MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome NGS Genetic DNA Test

MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome is a rare genetic disorder that affects the bones of the hands and feet. It is caused by a mutation in the MAFB gene. The syndrome is characterized by the progressive loss of bone in the carpal and tarsal bones, which can cause pain, deformity, and disability. The disorder is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the mutation on to each of their children.

NGS Genetic DNA Test is a diagnostic tool that can be used to confirm the diagnosis of MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome. This test analyzes the DNA sequence of the MAFB gene to identify any mutations that may be present. The test is highly accurate and can detect mutations that may not be visible through other diagnostic methods.

Cost of MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome NGS Genetic DNA Test

The cost of MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome NGS Genetic DNA Test at DNA Labs India is INR 20,000. The test is performed by highly trained and experienced professionals using state-of-the-art equipment and technology. The cost of the test includes all fees associated with the test, including sample collection, DNA analysis, and interpretation of results.

Symptoms of MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome

The symptoms of MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome typically begin in early childhood or adolescence. The most common symptoms of the disorder include:

• Pain and stiffness in the hands and feet
• Deformity of the hands and feet
• Difficulty gripping objects or walking
• Progressive loss of bone in the carpal and tarsal bones
• In some cases, the disorder may also affect other bones in the body, such as the spine or hips

Diagnosis of MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome

The diagnosis of MAFB Gene Multicentric Carpotarsal Osteolysis Syndrome is typically made based on a combination of clinical evaluation, imaging studies, and genetic testing. X-rays and other imaging studies can help to identify the characteristic bone loss in the carpal and tarsal bones. Genetic testing, such as NGS Genetic DNA Test, can confirm the presence of a mutation in the MAFB gene.