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SLC6A19 Gene Hartnup disorder NGS Genetic DNA Test Details
Understanding Hartnup Disorder through NGS Genetic DNA Testing
DNA Labs India offers Next Generation Sequencing (NGS) Genetic DNA Testing for Hartnup Disorder caused by mutations in the SLC6A19 gene. The test is available at an affordable cost of INR 20,000. In this blog, we will discuss the symptoms, diagnosis, and importance of NGS Genetic DNA Testing for Hartnup Disorder.
What is Hartnup Disorder?
Hartnup Disorder is a rare genetic disorder that affects the absorption of certain amino acids in the body. This disorder is caused by mutations in the SLC6A19 gene that provides instructions for making a protein called B0AT1. This protein is responsible for the absorption of amino acids in the small intestine.
Symptoms of Hartnup Disorder
The symptoms of Hartnup Disorder can vary from person to person. Some common symptoms include:
- Skin rash
- Photosensitivity
- Neurological symptoms such as headaches, ataxia, and tremors
- Psychiatric symptoms such as anxiety, depression, and hallucinations
- Delayed growth and development
- Diarrhea
- Abdominal pain
- Vomiting
Diagnosis of Hartnup Disorder
Hartnup Disorder is diagnosed through a series of tests that include a physical examination, blood and urine tests, and genetic testing. The genetic testing involves the analysis of the SLC6A19 gene to detect any mutations that may be causing the disorder.
NGS Genetic DNA Testing for Hartnup Disorder
NGS Genetic DNA Testing is a highly advanced diagnostic tool that can detect even the smallest mutations in the SLC6A19 gene. This test is essential for accurate diagnosis and early detection of Hartnup Disorder. The test involves the sequencing of the entire gene to identify any mutations that may be causing the disorder.
The Importance of NGS Genetic DNA Testing for Hartnup Disorder
NGS Genetic DNA Testing is crucial for the accurate diagnosis and early detection of Hartnup Disorder. Early detection can lead to better management and treatment of the disorder. It can also help in identifying carriers of the disorder and prevent the passing on of the disorder to future generations.
Conclusion
Hartnup Disorder is a rare genetic disorder that can cause a wide range of symptoms. NGS Genetic DNA Testing is an essential tool for accurate diagnosis and early detection of the disorder. DNA Labs India offers NGS Genetic DNA Testing for Hartnup Disorder at an affordable cost of INR 20,000. Contact us today to book your test and ensure early detection and better management of Hartnup Disorder.
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 SLC6A19 Gene Hartnup disorder NGS Genetic DNA Test