Hartnup disorder is a rare genetic condition that affects the body’s ability to absorb certain amino acids from the diet, leading to a range of symptoms. This disorder is caused by mutations in the SLC6A19 gene, which plays a crucial role in the transport of amino acids in the kidneys and intestines. Understanding the symptoms and getting a timely diagnosis through genetic testing can significantly improve the quality of life for individuals with Hartnup disorder. DNA Labs UAE offers a comprehensive genetic test for the SLC6A19 gene Hartnup disorder, providing vital information for individuals and families affected by this condition.
Symptoms of Hartnup Disorder
Hartnup disorder manifests in a variety of symptoms that can vary significantly in severity among affected individuals. The symptoms are primarily due to the body’s inability to properly absorb and metabolize certain amino acids, leading to a deficiency of these nutrients which are essential for various bodily functions. Common symptoms of Hartnup disorder include:
- Skin rashes and photosensitivity: Affected individuals may develop skin lesions and rashes, particularly in areas exposed to the sun. This is due to the deficiency of certain amino acids needed for skin health.
- Neurological issues: Hartnup disorder can lead to neurological symptoms such as headaches, ataxia (lack of muscle coordination), and sometimes seizures, due to the impaired absorption of tryptophan, an amino acid that is a precursor to the neurotransmitter serotonin.
- Psychiatric symptoms: Mood swings, behavioral changes, and even psychosis can occur in some cases, likely related to the imbalance of amino acids affecting brain function.
- Gastrointestinal disturbances: Individuals with Hartnup disorder may experience episodes of diarrhea or constipation, abdominal pain, and vomiting.
It’s important to note that symptoms can be triggered or exacerbated by factors such as malnutrition, prolonged sun exposure, fever, and stress.
SLC6A19 Gene Hartnup Disorder Genetic Test
Genetic testing for Hartnup disorder involves analyzing the SLC6A19 gene for mutations that cause the condition. DNA Labs UAE offers a comprehensive genetic test that can confirm the diagnosis of Hartnup disorder, providing essential information for the management and treatment of the condition. The test is particularly recommended for individuals who exhibit the symptoms of Hartnup disorder, as well as for families with a history of the condition.
The process of genetic testing is straightforward and involves the collection of a DNA sample, typically through a blood draw or a cheek swab. The sample is then analyzed in the laboratory to identify any mutations in the SLC6A19 gene.
Test Cost
The cost of the SLC6A19 gene Hartnup disorder genetic test at DNA Labs UAE is 4400 AED. This includes the cost of the sample collection, genetic analysis, and a comprehensive report detailing the test results and their implications for the individual’s health and treatment options.
Conclusion
Hartnup disorder, though rare, can significantly impact the quality of life if left undiagnosed and untreated. Recognizing the symptoms and undergoing genetic testing can provide individuals and families with the information needed to manage the condition effectively. DNA Labs UAE is committed to providing accurate and reliable genetic testing services, including the SLC6A19 gene Hartnup disorder genetic test, to help improve the lives of those affected by genetic disorders. For more information and to schedule a test, visit DNA Labs UAE.
