HHH Syndrome Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test Cost 9500 Rs

HHH Syndrome Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test

HHH Syndrome Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test

Disease: Inborn errors of metabolism

Method: LC-MS/MS, GC-MS

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Sample Types
  • 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.

9,500.00/- Rs ₹15,000.0036% off

  • Results in : Sample Daily by 5 pm; Report 5 days
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HHH Syndrome Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test Cost 9500 Rs

Test Name HHH Syndrome Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test
Test type Pediatrician, Physician
Pre-test Information Give brief clinical history.
Report Delivery Sample Daily by 5 pm; Report 5 days
Components
Price ₹ 9500
Method LC-MS/MS, GC-MS

HHH Syndrome Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test Details

Short Description

HHH syndrome is a defect of Urea cycle metabolism inherited as an autosomal recessive disorder. It may be present at birth, during childhood or even adulthood. It is characterized by lethargy, poor feeding, vomiting, encephalopathy and liver dysfunction.

Test Specifications

  • Speciality: Pediatrician, Physician

  • Components:

  • Department: GENETIC

  • Shipping Stability: Room Temperature: 6 hrs, Refrigerator:72 hrs, Frozen: 4 weeks

PreTest Information

Give brief clinical history.

Detail Description

HHH Syndrome: Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test

HHH Syndrome, also known as Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome, is a rare genetic disorder that affects the body's ability to process certain amino acids. This disorder is caused by mutations in the SLC25A15 gene, which provides instructions for making a protein called the mitochondrial ornithine transporter.

The mitochondrial ornithine transporter is responsible for transporting ornithine, a type of amino acid, into the mitochondria of cells. In people with HHH Syndrome, this transporter is not working properly, which leads to the buildup of ornithine and other amino acids in the blood, liver, and brain. This can cause a range of symptoms, including:

  • Hyperammonemia (high levels of ammonia in the blood)
  • Hyperornithinemia (high levels of ornithine in the blood)
  • Homocitrullinuria (high levels of homocitrulline in the urine)
  • Seizures
  • Mental retardation
  • Coma

Diagnosis of HHH Syndrome typically involves a blood test to measure levels of ornithine, ammonia, and other amino acids. Genetic testing may also be done to confirm the diagnosis and identify the specific mutation responsible for the disorder.

If you suspect that you or a loved one may have HHH Syndrome, it is important to speak with a healthcare professional as soon as possible. Early diagnosis and treatment can help manage symptoms and improve quality of life.

HHH Syndrome Test Cost

The cost of the HHH Syndrome test in India varies depending on the location and the facility where the test is conducted. However, the average cost of the HHH Syndrome test is around INR 9500.

Conclusion

HHH Syndrome is a rare genetic disorder that can cause a range of symptoms, including hyperammonemia, hyperornithinemia, and homocitrullinuria. If you suspect that you or a loved one may have HHH Syndrome, it is important to speak with a healthcare professional to get a proper diagnosis and treatment. The cost of the HHH Syndrome test in India is around INR 9500.

At DNA Labs India, we offer a range of genetic tests to help diagnose and manage genetic disorders like HHH Syndrome. Our team of experienced genetic counselors and technicians work together to provide accurate and timely results. Contact us today to learn more about our services.

Frequently Asked Questions

  • What is the cost of HHH Syndrome Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test?

    Cost of HHH Syndrome Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test is 9500 Rs

  • What is the cost of the HHH Test?

    HHH Test costs 6700 Rs

  • What is the reporting time for HHH Test?

    Reporting time will take 1 week

  • What is HHH Syndrome?

    Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a pan-ethnic distribution, with a major prevalence in Canada, Italy and Japan.

  • How is HHH Syndrome inherited?

    HHH syndrome is known as an autosomal recessive condition, for autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child and as such, have a child affected by the disease. If both parents are carriers of Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, there's a one in four chance that their children could develop symptoms. 

  • Causes for HHH Syndrome:

    Mutations in the SLC25A15 gene cause ornithine translocase deficiency. The SLC25A15 gene provides instructions for making a protein called mitochondrial ornithine transporter 1. This protein participates in, which is a sequence of biochemical reactions that occurs in cells

  • Diagnosis for HHH Syndrome

    The biochemical diagnosis of HHH syndrome is established in a proband with the classic metabolic triad of episodic or postprandial hyperammonemia, persistent hyperornithinemia, and urinary excretion of homocitrulline. The molecular diagnosis of HHH syndrome is established in the symptomatic individuals with or without suggestive metabolic/biochemical findings by identification of biallelic pathogenic variants in SLC25A15.

  • Clinical characteristics for HHH Syndrome:

    Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway. Clinical manifestations and age of onset vary among individuals even in the same family. Manifestations of hyperammonemia usually begin 24-48 hours after feeding begins and can include lethargy, somnolence, refusal to feed, vomiting, tachypnea with respiratory alkalosis, and seizures.

  • Frequency of HHH Syndrome:

    HHH Syndrome is a very rare disorder. More than 100 affected individuals have been described in the scientific literature.

  • Other Names for This Condition:

    Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome

    Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

    Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

    Triple H syndrome

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