HHH Syndrome Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test sale cost 1640 AED
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HHH Syndrome Hyperornithinemia – Hyperammonemia – Homocitrullinuria Syndrome Test

Original price was: 1,820 د.إ.Current price is: 1,640 د.إ.

-10%

HHH Syndrome, standing for Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome, is a rare genetic disorder that affects the urea cycle, leading to the accumulation of ammonia and other toxic substances in the blood. This condition can cause a wide range of symptoms, from lethargy and vomiting in infants to developmental delays and learning disabilities in older children and adults. Early diagnosis and treatment are crucial for managing symptoms and preventing severe neurological damage.

To diagnose HHH Syndrome, a specialized genetic test is performed, which can identify mutations in the SLC25A15 gene responsible for this condition. In the UAE, DNA Labs offers this critical test for individuals suspected of having HHH Syndrome. The cost of the test is 1640 AED. Conducted in a state-of-the-art facility, DNA Labs UAE ensures accurate and reliable results, providing essential information for the proper management and treatment of this rare disorder.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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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:

  1. Clinical evaluation: A healthcare professional will review the patient’s medical history and symptoms to assess if they are consistent with HHH syndrome.
  2. Blood tests: Blood samples are taken to measure the levels of ornithine, ammonia, and homocitrulline. Elevated levels of these substances may indicate HHH syndrome.
  3. 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.
  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.

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
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.

SKU: TEST-5236 Category:

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