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ALG8 Gene Glycosylation disorder type 1H NGS Genetic DNA Test Cost 20000 Rs
ALG8 Gene Glycosylation disorder type 1H NGS Genetic DNA Test Details
ALG8 Gene Glycosylation Disorder Type 1H: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost
ALG8 gene glycosylation disorder type 1H is a rare genetic disorder that affects the body's ability to make certain sugars and attach them to proteins. This disorder can lead to a variety of symptoms, including developmental delays, seizures, and liver problems. In this blog post, we will discuss the symptoms, diagnosis, and cost of the NGS genetic DNA test for ALG8 gene glycosylation disorder type 1H.
Symptoms of ALG8 Gene Glycosylation Disorder Type 1H
The symptoms of ALG8 gene glycosylation disorder type 1H can vary from person to person, but they often include:
- Developmental delays
- Seizures
- Liver problems
- Abnormal eye movements
- Difficulty with coordination and balance
- Low muscle tone
- Intellectual disability
Some individuals with ALG8 gene glycosylation disorder type 1H may also have distinctive facial features, such as a small head size, widely spaced eyes, and a small jaw.
Diagnosis of ALG8 Gene Glycosylation Disorder Type 1H
ALG8 gene glycosylation disorder type 1H is diagnosed through genetic testing. This may include a blood test or a cheek swab to collect DNA samples. The samples are then sent to a laboratory for analysis.
The NGS genetic DNA test is a highly accurate and reliable test that can detect mutations in the ALG8 gene that cause glycosylation disorder type 1H. This test is recommended for individuals who have symptoms of the disorder, as well as their family members who may be at risk of carrying the mutation.
NGS Genetic DNA Test Cost for ALG8 Gene Glycosylation Disorder Type 1H
The cost of the NGS genetic DNA test for ALG8 gene glycosylation disorder type 1H in India is approximately INR 20,000. This cost may vary depending on the laboratory and the specific testing method used.
While the cost of the test may seem high, it is important to remember that early diagnosis can lead to early intervention and improved outcomes for individuals with the disorder. Additionally, family members who test negative for the mutation can be reassured that they are not at risk of passing the disorder on to their children.
Conclusion
ALG8 gene glycosylation disorder type 1H is a rare genetic disorder that can cause a variety of symptoms, including developmental delays, seizures, and liver problems. The NGS genetic DNA test is a highly accurate and reliable test that can detect mutations in the ALG8 gene that cause the disorder. While the cost of the test may seem high, early diagnosis can lead to early intervention and improved outcomes for individuals with the disorder.
If you or a loved one is experiencing symptoms of ALG8 gene glycosylation disorder type 1H, it is important to speak with a healthcare professional about genetic testing options.