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MAT1A Gene Methionine adenosyltransferase deficiency, autosomal recessive NGS Genetic DNA Test Cost 20000 Rs
MAT1A Gene Methionine adenosyltransferase deficiency, autosomal recessive NGS Genetic DNA Test Details
Understanding MAT1A Gene Methionine Adenosyltransferase Deficiency: Symptoms, Diagnosis, and Genetic Testing Cost in India
DNA Labs India is a leading provider of genetic testing services in the country. One of the tests that the company offers is the MAT1A Gene Methionine Adenosyltransferase Deficiency test. This genetic test can help diagnose individuals who may have this rare autosomal recessive disorder. In this blog, we will discuss the symptoms and diagnosis of MAT1A Gene Methionine Adenosyltransferase Deficiency and the cost of the genetic test in India.
What is MAT1A Gene Methionine Adenosyltransferase Deficiency?
MAT1A Gene Methionine Adenosyltransferase Deficiency is a rare autosomal recessive disorder that affects the body's ability to produce an important molecule called S-adenosylmethionine (SAMe). SAMe is involved in many important biological processes in the body, including the production of neurotransmitters, hormones, and DNA. Individuals with MAT1A Gene Methionine Adenosyltransferase Deficiency have low levels of SAMe, which can lead to a range of symptoms and health problems.
Symptoms of MAT1A Gene Methionine Adenosyltransferase Deficiency
The symptoms of MAT1A Gene Methionine Adenosyltransferase Deficiency can vary widely from person to person. Some individuals may have no symptoms at all, while others may experience severe health problems. Common symptoms of the disorder include:
- Jaundice (yellowing of the skin and eyes)
- Enlarged liver (hepatomegaly)
- Enlarged spleen (splenomegaly)
- Low muscle tone (hypotonia)
- Developmental delay
- Intellectual disability
- Behavioral problems
Some individuals with MAT1A Gene Methionine Adenosyltransferase Deficiency may also experience seizures, muscle weakness, and difficulty coordinating movements.
Diagnosing MAT1A Gene Methionine Adenosyltransferase Deficiency
Diagnosing MAT1A Gene Methionine Adenosyltransferase Deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. Doctors may perform blood tests to measure levels of SAMe and other metabolites in the body. They may also perform imaging tests, such as ultrasound or MRI, to evaluate the liver and other organs.
If a doctor suspects that a patient has MAT1A Gene Methionine Adenosyltransferase Deficiency, they may recommend genetic testing to confirm the diagnosis. The genetic test looks for mutations in the MAT1A gene, which is responsible for producing the enzyme that converts methionine to SAMe. The test is typically performed using next-generation sequencing (NGS) technology, which can analyze multiple genes at once and provide more comprehensive results.
Cost of MAT1A Gene Methionine Adenosyltransferase Deficiency Genetic Testing in India
The cost of MAT1A Gene Methionine Adenosyltransferase Deficiency genetic testing in India can vary depending on the provider. At DNA Labs India, the cost of the test is INR 20,000. This includes the cost of the NGS analysis and a detailed report of the results.
Conclusion
MAT1A Gene Methionine Adenosyltransferase Deficiency is a rare autosomal recessive disorder that can have serious health consequences. If you or a loved one are experiencing symptoms of the disorder, it's important to speak with a doctor to get a proper diagnosis. Genetic testing can play an important role in diagnosing MAT1A Gene Methionine Adenosyltransferase Deficiency, and DNA Labs India offers a comprehensive test at an affordable cost.
If you have any questions about the test or the disorder, don't hesitate to reach out to DNA Labs India for more information.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for MAT1A Gene Methionine adenosyltransferase deficiency, autosomal recessive NGS Genetic DNA Test
