Short Description

NGS genetic DNA test detecets for variant and mutation detection in AHCY gene for Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

PreTest Information

Clinical History of Patient who is going for AHCY Gene Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AHCY Gene Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase NGS Genetic DNA Test gene AHCY

Detail Description

AHCY Gene Hypermethioninemia with Deficiency of S-adenosylhomocysteine Hydrolase

AHCY gene hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is a rare genetic disorder that affects the way the body processes methionine, an essential amino acid. This disorder is caused by mutations in the AHCY gene, which provides instructions for making the S-adenosylhomocysteine hydrolase enzyme. This enzyme is responsible for breaking down S-adenosylhomocysteine, a molecule that is produced when methionine is used by the body.

Individuals with AHCY gene hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase have high levels of methionine and S-adenosylhomocysteine in their blood and urine. This can cause a range of symptoms, including developmental delays, intellectual disability, liver disease, and seizures. The severity of these symptoms varies widely among affected individuals.

Symptoms

The symptoms of AHCY gene hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase can vary widely among affected individuals. Some people may have no symptoms at all, while others may experience severe developmental delays, intellectual disability, and other health problems.

Common symptoms of AHCY gene hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase include:

• Developmental delays
• Intellectual disability
• Liver disease
• Seizures
• Muscle weakness
• Unusual body odor
• Enlarged liver and spleen

Diagnosis

AHCY gene hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is diagnosed through genetic testing. This involves analyzing a sample of the patient's DNA to look for mutations in the AHCY gene.

If a patient is suspected to have AHCY gene hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase based on their symptoms, their doctor may recommend genetic testing. This test is typically performed using a blood or saliva sample, and can take several weeks to produce results.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for AHCY gene hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase can vary depending on the provider. In India, the cost of this test is typically around INR 20,000.

It is important to note that this cost may not include any additional fees associated with genetic counseling or follow-up testing.

Conclusion

AHCY gene hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase is a rare genetic disorder that can cause a range of symptoms, including developmental delays, intellectual disability, and liver disease. Genetic testing is the most effective way to diagnose this condition, and the cost of this testing can vary depending on the provider.

If you or a loved one are experiencing symptoms of AHCY gene hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, it is important to speak with a healthcare provider about genetic testing and other treatment options.

For more information about genetic testing and DNA labs in India, contact DNA Labs India.