HHH Syndrome Hyperornithinemia – Hyperammonemia – Homocitrullinuria Syndrome Test
Test Cost: AED 1640.0
Symptoms:
- Neurological problems
- Developmental delay
- Intellectual disability
- Episodes of hyperammonemia
Diagnosis:
The HHH syndrome, also known as Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome, is a rare metabolic disorder that affects the metabolism of the amino acid ornithine. This condition is caused by mutations in the SLC25A15 gene, which is responsible for the production of a protein called mitochondrial ornithine transporter.
The HHH syndrome test is a diagnostic test used to confirm the presence of this condition. It typically involves several steps:
- Clinical evaluation: A healthcare professional will review the patient’s medical history and symptoms to assess if they are consistent with HHH syndrome.
- Blood tests: Blood samples are taken to measure the levels of ornithine, ammonia, and homocitrulline. Elevated levels of these substances may indicate HHH syndrome.
- Urine tests: Urine samples are collected to measure the levels of orotic acid and homocitrulline. Increased levels of these substances may also indicate HHH syndrome.
- Genetic testing: Genetic testing is performed to identify mutations in the SLC25A15 gene. This can be done through DNA sequencing or other molecular techniques.
- Liver biopsy (in some cases): In certain situations, a liver biopsy may be performed to assess the severity of liver damage caused by HHH syndrome.
The HHH syndrome test should be performed by a qualified healthcare professional with experience in diagnosing and managing metabolic disorders. Genetic counseling may also be recommended to discuss the inheritance pattern and implications for family members.
Test Department: GENETIC
Doctor: Pediatrician, Physician
Pre Test Information: Give brief clinical history.
Report Delivery: Sample daily by 5 pm; Report 5 days
Method: LC-MS/MS, GC-MS
Test Type: Inborn errors of metabolism
Test Name | HHH Syndrome Hyperornithinemia – Hyperammonemia – Homocitrullinuria Syndrome Test |
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Components | |
Price | 1640.0 AED |
Sample Condition | 15 mL (10 mL min.) aliquot of random urine in a sterile screw capped container. No preservative required. Ship refrigerated or frozen. Give brief clinical history. |
Report Delivery | Sample Daily by 5 pm; Report 5 days |
Method | LC-MS/MS, GC-MS |
Test type | Inborn errors of metabolism |
Doctor | Pediatrician, Physician |
Test Department: | GENETIC |
Pre Test Information | Give brief clinical history. |
Test Details |
The HHH syndrome, also known as Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome, is a rare metabolic disorder that affects the metabolism of the amino acid ornithine. This condition is caused by mutations in the SLC25A15 gene, which is responsible for the production of a protein called mitochondrial ornithine transporter. The HHH syndrome test is a diagnostic test used to confirm the presence of this condition. It typically involves several steps, including: 1. Clinical evaluation: A healthcare professional will review the patient’s medical history and symptoms to assess if they are consistent with HHH syndrome. Symptoms may include neurological problems, developmental delay, intellectual disability, and episodes of hyperammonemia. 2. Blood tests: Blood samples are taken to measure the levels of ornithine, ammonia, and homocitrulline. In HHH syndrome, there is an elevation of these substances in the blood. 3. Urine tests: Urine samples are collected to measure the levels of orotic acid and homocitrulline. Increased levels of these substances may indicate HHH syndrome. 4. Genetic testing: Genetic testing is performed to identify mutations in the SLC25A15 gene. This can be done through DNA sequencing or other molecular techniques. 5. Liver biopsy (in some cases): In certain situations, a liver biopsy may be performed to assess the severity of liver damage caused by HHH syndrome. It is important to note that the HHH syndrome test should be performed by a qualified healthcare professional with experience in diagnosing and managing metabolic disorders. Genetic counseling may also be recommended to discuss the inheritance pattern and implications for family members. |