Short Description

Fabry disease is an X linked disorder caused by deficiency of the enzyme Alpha Galactosidase A due to mutations in GALA gene. Clinically the disease manifests with angiokeratomas, hypohidrosis, corneal & lens opacities and progressive small vessel disease of kidneys, heart & brain. Early initiation of enzyme therapy may prevent or slow the progression of life threatening complications.

PreTest Information

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Detail Description

FABRY DISEASE QUANTITATIVE BLOOD Test cost INR:3500 symptoms diagnosis

Fabry disease is a rare genetic disorder that affects the body's ability to break down a type of fat called globotriaosylceramide (GL-3). This buildup of GL-3 can cause damage to multiple organs, including the kidneys, heart, and nervous system. Early diagnosis and treatment are crucial in managing the symptoms of Fabry disease.

Symptoms of Fabry Disease

Fabry disease can present with a wide range of symptoms that can vary in severity. The symptoms may include:

• Episodes of pain and burning sensations in the hands and feet
• Skin rash (angiokeratomas)
• Gastrointestinal problems
• Decreased sweating
• Hearing loss
• Cardiac abnormalities
• Kidney dysfunction

Diagnosis of Fabry Disease

Diagnosis of Fabry disease involves a combination of clinical symptoms, family history, and laboratory tests. A simple blood test can measure the levels of GL-3 in the blood. In addition, genetic testing can identify mutations in the gene responsible for the production of the enzyme alpha-galactosidase A, which breaks down GL-3.

FABRY DISEASE QUANTITATIVE BLOOD Test

The FABRY DISEASE QUANTITATIVE BLOOD Test is a specific blood test that measures the levels of GL-3 in the blood. This test is used in the diagnosis and monitoring of Fabry disease. The cost of the FABRY DISEASE QUANTITATIVE BLOOD Test in India is around INR 3500.

Conclusion

Fabry disease is a rare genetic disorder that can cause significant damage to multiple organs in the body. Early diagnosis and treatment are essential in managing the symptoms and preventing further complications. The FABRY DISEASE QUANTITATIVE BLOOD Test is a specific blood test that can aid in the diagnosis and monitoring of Fabry disease. If you or a loved one is experiencing symptoms of Fabry disease, it is important to seek medical attention and discuss the possibility of testing with your healthcare provider.

For more information on Fabry disease and the FABRY DISEASE QUANTITATIVE BLOOD Test, contact DNA Labs India.