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Risk free test for the early detection of congenital and metabolic disorders

Easy: Urine is collected from the baby’s diaper

Safe: No need for a heel-prick or any other type of blood draw

Accurate: Tandem Gas Chromatography coupled with Mass Spectrometry (GC/MS)

Early: As of 2 days after birth and up to 5 years of age

The first year of a child's life is a period of very rapid development. If your baby has a metabolic disorder due to a genetic defect, the medical consequences could be very serious. The early detection of a metabolic disease enables the doctors to take the necessary actions to treat your baby right away, thereby, potentially avoiding severe medical issues.

Metabolism... What is that?

Metabolism is the sum of all biochemical reactions that are responsible for the maintenance of life; these metabolic processes are responsible for the maintenance of life.

Metabolism is the set of biochemical reactions that occur in our body. These reactions generate all the compounds and energy that are required for the body to function normally. All these reactions are performed in chains, forming the metabolic pathways. Each compound has its own path of creation (anabolism) and degradation (catabolism). Metabolism is involved in every single process that converts or uses energy in our body, such as:

  • Breathing
  • Blood circulation
  • Body temperature control
  • Contraction of the muscles
  • Digestion of food and nutrients
  • Elimination of waste via urine and faeces
  • Functioning of the brain and nerves

Congenital and Metabolic Disorders (inborn errors of metabolism, IEM) are genetic disorders that prevent the body from properly turning food into energy

Inborn Errors of Metabolism

Amino Acid Disorders Urea Cycle Disorders
Orgaic Acid Metabolism Disorder Carbohydrate Disorders
Fatty Acid Oxidation Disorders Peroxisomal Disorders
Lysosomal Storage Diseases Mitochondrial Disorders

Metabolism enables the body to digest food and produce the compounds and energy that are required for a person to live a healthy life. For this process to take place correctly, several enzymes are needed along the metabolic pathway.

If, due to a gene mutation, the body is unable to produce a specific enzyme then this could lead to a broken metabolic pathway.

The missing enzyme will result in a food product not breaking down properly into compounds, which will in turn lead to its accumulation in the body, thereby causing a wide array of potential conditions.

This accumulation of toxic metabolites – or shortage of vital metabolites – is called a metabolic disorder or inborn error of metabolism (IEM).

There are many kinds of metabolic disorders and several of them can cause developmental delays if they are not controlled in an adequate manner.

Though rare, they can have devastating consequences for patients and their families.

Signs and Symptoms

Some Metabolic Disorders have no noticeable clinical symptoms during the neonatal period and can, therefore, remain undiagnosed for a long period of time.

Due to the large number of existing metabolic disorders and the wide range of bodily systems that can be affected by them, nearly every presenting complaint could potentially be caused by a congenital metabolic disease, especially in childhood.

The following are examples of potential manifestations affecting each of the major organ systems.

  • Growth failure, failure to thrive, weight loss, slow weight gain, slowed development
  • Ambiguous genitalia, delayed puberty, precocious puberty
  • Brain damage, developmental delay, seizures, dementia, encephalopathy, stroke, speech disabilities
  • Deafness, blindness, pain agnosia
  • Skin rash, abnormal pigmentation, lack of pigmentation, excessive hair growth, lumps and bumps, chronic skin diseases
  • Dental abnormalities
  • Immunodeficiency, thrombocytopenia, anaemia, enlarged spleen, enlarged lymph nodes
  • Various forms of cancer
  • Recurrent vomiting, diarrhoea, abdominal pain
  • Excessive urination, renal failure, dehydration, oedema
  • Hypotension, heart failure, enlarged heart, hypertension, myocardial infarction
  • Hepatomegaly, jaundice, liver failure
  • Unusual facial features, congenital malformations
  • Excessive breathing (hyperventilation), respiratory failure
  • Abnormal behaviour, depression, psychosis
  • Joint pain, muscle weakness, cramps
  • Hypothyroidism, adrenal insufficiency, hypogonadism, diabetes mellitus

Verity detects the following from a simple urine analysis:

2-ketoadipic aciduria, 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency, 3-hydroxyisobutyryl-CoA deacylase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 3-methylglutaconic aciduria, 5-oxoprolinuria, Adenine phosphoribosyltransferase deficiency, Adenosine deaminase deficiency, Alkaptonuria, Aminoacylase 1 deficiency, Argininemia, Argininosuccinic aciduria, Benign hyperphenylalaninemia, Beta-ketothiolase deficiency (BKT), Beta-aminoisobutyric aciduria, Biotinidase deficiency, Canavan disease, Carbamoyl phosphate synthetase 1-deficiency, Citrullinemia type 1, Citrullinemia type 2, Congentital lactose intolerance, Cystathioninuria, Cystinuria, Defects of biopterin cofactor biosynthesis (BIOPT BS), Defects of biopterin cofactor regeneration (BIOPT REG), D-glyceric aciduria, Dihydrolipoyl dehydrogenase (E3) deficiency, Dihydropyrimidinase deficiency, Endogenous sucrosuria, Ethyl malonic aciduria, Familial renal iminoglycinuria, Formiminoglutamic aciduria, Fructose 1,6-Diphosphatase Deficiency, Fructosuria, Fumarate hydratase deficiency, Galactokinase deficiency (GALK), Galactose epimerase deficiency (GALE), Galactosemia, Glutaric aciduria type 1, Glutaric aciduria type 2, Glutathionuria, Glycerol Kinase deficiency, Hartnup disease, Hawkinsunuria, Histidinemia, Histidinuria, Homocystinuria, Hydroxylysinuria, Hyperammonemia Hyperornithinemia Homocitrullinuria Syndrome (HHH), Hyperglycinuria (ketotic), Hyperglycinuria (non-ketotic), Hyperhydroxyprolinemia, Hyperleucine-isoleucinemia, Hypermethioninemia, Hyperpipecolatemia, Hyperprolinemia type 1, Hyperprolinemia type 2, Hypersarcosinemia, Hyperuric acidemia, Imidazole amino aciduria, Iminoglycinuria, Infantile refsum disease, Isobutyryl-CoA dehydrogenase deficiency (IBD), Isovaleric acidemia, Leigh syndrome, Lesch-Nyhan syndrome, Lysinuria, Lysinuric protein intolerance, Malonic acidemia (MAL), Maple syrup urine disease (MSUD), Medium chain acyl-CoA dehydrogenase deficiency, Methylmalonic acidemia (MMA) - Cbl C, D, Methylmalonic aciduria, cblA and cblB forms (MMA, Cbl A,B), Methylmalonic semialdehyde dehydrogenase deficiency, Methylmalonyl-CoA mutase deficiency (MUT), Mevalonic aciduria, Mitochondrial trifunctional protein deficiency, Multiple carboxylase deficiency, N-acetylglutamate / Carbamyl phosphate synthetase deficiency, Neonatal Adrenoleukodystrophy, Neuroblastoma, NICCD, Ornithine transcarbamylase deficiency, Orotic aciduria, Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase deficiency, Phenylketonuria (PKU), Primary hyperoxaluria type 1, Primary hyperoxaluria type 2, Propionic acidemia, Pyruvate carboxylase deficiency, Pyruvate decarboxylase deficiency, Pyruvate dehydrogenase (E1) deficiency, Pyruvate dehydrogenase phosphatase deficiency, Saccharopinuria, Serum carnosinase deficiency, Short chain acyl-CoA dehydrogenase deficiency, Succinic semialdehyde dehydrogenase deficiency, Thymine Uraciluria, Transient Galactosemia, Transient neonatal tyrosinemia, Tryptophanuria with dwarfism, Tyrosinemia caused by liver dysfunction, Tyrosinemia type 1, Tyrosinemia type 2, Tyrosinemia type 3, Valinemia, Very Long chain acyl-CoA dehydrogenase deficiency, Xanthinuria, Xanthurenic aciduria, Zellweger like syndrome, Zellweger syndrome

Verity is based on the analysis of the concentration levels of metabolites in urine

Metabolites are transported throughout the whole body via the bloodstream. They are then naturally filtered by the kidneys and eliminated from the body via urine.

The early analysis of a child’s urine enables the detection of an excess, or an absence, of certain metabolites, leading to an efficient and timely diagnosis of the disease in a non-invasive manner.

Legend:

  1. Food or stores
  2. Gene
  3. Enzyme
  4. Metabolic cycle
  5. Bloodstream: Only a few of the metabolites are present
  6. Kidneys: Metabolites are filtered out from the bloodstream
  7. Urine: Metabolites accumulates in urine

Verity uses the best available technology: Tandem GC/MS

Verity uses the most advanced technology available for newborn screening: GC/MS. The Gas Chromatography (GC) analytical method, coupled with a Mass Spectrometer (MS), is able to give the most precise and comprehensive results that can be expected today.

Why?

When Gas Chromatography is combined with Mass Spectrometry, a powerful analytical tool is created. A researcher can take an organic solution, inject it into the instrument, separate the individual components, and identify each of them.

GC/MS is one of the so-called hyphenated analytical techniques. As the name implies, it is actually two techniques that are combined to form a single method for the analysis of chemical mixtures. Gas Chromatography separates the components of a mixture, and Mass Spectrometry characterises each of the individual components. By combining the two techniques, an analytical chemist can both qualitatively and quantitatively evaluate a solution containing a number of different chemicals. The uses for GC/MS are numerous. They are used extensively in the medical, pharmacological, environmental, and law enforcement fields.

Verity is more reliable than any other currently used screening test

The current methods used for the testing of inborn errors of metabolism are only available in industrially developed countries. In countries with emerging economies, these methods are either under development or are not yet being considered.

The absence of testing for inborn errors of metabolism implies that patients can only be diagnosed once the illness has presented itself, by which time it is often too late to provide any kind of meaningful therapy.

It is worth mentioning that even in countries where testing strategies are in place, there is a lack of uniformity. A descriptive example of this is the 'broadness of spectrum' analyses performed in the following countries: 14 different analyses in Germany, 5 different analyses in the United Kingdom and in France.

This lack of uniformity is also demonstrated by, for instance, the sampling times that vary from 24 hours to 120 hours, and the lack of standardisation in regards to laboratory cut-offs and the applied algorithms for confirmatory diagnostics.

Furthermore, the implemented methods tend to be of an inferior quality: MS/MS and sample collection via the painful heel-prick method.

Clear report, accurate results – Download your results on your personal account

With Verity, get:


-Diagnoses 111 congenital metabolic diseases

-Allows immediate treatment of the disease by your doctor

-Potentially reduces risks of slowed development and/or disability

-Is suitable for children from 48 hours old, up to the age of 5

-Analyses 250 metabolites in child urine

-Uses the latest newborn screening technology (GC/MS)

-Has medical support from the child’s doctor included, If necessary.

References:

  • A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry- rapid, practical and simultaneous urinary metabolites analysis. I. Matsumoto et. Al. Mass spectrometry reviews. 1996, 15,43-57
  • Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: Fifteen-year experience. Moacir Wajner et. Al., Clinica chimica acta; international journal of clinical chemistry. Volume 400, issue 1-2 (February, 2009), p. 77-81.
  • An introduction to Gas Chromatography-Mass spectrometry and the inherited organic acidemias. Stephen Goodman et. Al., American Society of Human Genetics. 32:781-792, 1980.
  • Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism. Tomiko Kuhara et. Al., Journal of Chromatography B , Volume 855 (1) – Aug 1, 2007.
  • Pilot study of gas chromatography-mass spectrometry screening of newborn urine for inborn errors of metabolism after treatment with urease. Kuhara et. Al., Journal of chromatography. B, Biomedical sciences and applications 09/1999; 731(1):141-7.

How Verity works

Purchase your Verity kit - Receive your kit shortly at home - Perform the collection - Return the sample free of charge - Receive your results!

Purchase online

Ad Verity kit to your basket, Click on the order button and follow the simple instructions.

Sampling

You will find in your kit everything you need to perform the sample collection. Simply follow the detailed Instructions For Use that you will find inside your kit.

Free shipping

The shipping is entirely covered by Genoma. Simply follow the instructions inside your kit to return your sample for analysis.

Analysis

Your sample will be analysed in the most advanced laboratories. They use cutting edge technology to offer you the most accurate results in the shortest possible time.

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