ISO 15189
ISO 17025
Part of CDC Laboratory Network
Vithinias 17, 1st floor, 14234 Athens - Greece
Phone: +30 211 1826130, Fax: +30 211 1826131
Email: info@neoscreengr.com
Tandem Mass Spectrometry
Tandem mass spectrometry (MS/MS) is a powerful multi-analyte screening method, which is ideally suited for population-wide testing. Since the early 1990s, MS/MS has made possible the screening for more than 30 genetic disorders affecting the metabolism of amino acids, fatty acids, and organic acids. In our experience the combined incidence of the disorders identifiable by MS/MS in a single blood spot analysis is approximately 1:1,700 newborns.
A few of the disorders detectable by supplemental newborn screening are not yet treatable satisfactorily. However, the possibility of making the diagnosis early in life not only helps to avoid unnecessary diagnostic testing, but is also beneficial to the patient's families because genetic counseling and prenatal diagnosis can be offered. The simultaneous MS/MS analysis of amino acids, acylcarnitines, and succinylacetone in dried blood spots can be performed in 3 minutes per specimen, generating metabolite profiles that allows for the biochemical diagnosis of multiple disorders. This is in contrast to conventional screening techniques traditionally based on the principle of 1 separate test for each disorder.
Tandem mass spectrometry (MS/MS) is a powerful multi-analyte screening method, which is ideally suited for population-wide testing. Since the early 1990s, MS/MS has made possible the screening for more than 30 genetic disorders affecting the metabolism of amino acids, fatty acids, and organic acids. In our experience the combined incidence of the disorders identifiable by MS/MS in a single blood spot analysis is approximately 1:1,700 newborns.
A few of the disorders detectable by supplemental newborn screening are not yet treatable satisfactorily. However, the possibility of making the diagnosis early in life not only helps to avoid unnecessary diagnostic testing, but is also beneficial to the patient's families because genetic counseling and prenatal diagnosis can be offered. The simultaneous MS/MS analysis of amino acids, acylcarnitines, and succinylacetone in dried blood spots can be performed in 3 minutes per specimen, generating metabolite profiles that allows for the biochemical diagnosis of multiple disorders. This is in contrast to conventional screening techniques traditionally based on the principle of 1 separate test for each disorder.
Biochemical Analysis
Biochemical testing looks at the levels of specific markers and enzymes that are produced by different metabolic pathways in the body. Metabolic disorders are often the result of a missing or non-functional enzyme which catalyze a specific pathway. When an enzyme is missing, greatly reduced in quantity, or is not working properly, the body cannot follow its normal pathways. As a result, several harmful changes in body biochemistry can occur. These include accumulation of substrate, accumulation of precursors, redirection of substrate into alternate pathways.
Biochemical testing looks at the levels of these disturbances and can be used to detect several different metabolic conditions.
What disorders are detected with biochemical testing?
Biotinidase Deficiency:
Biotinidase deficiency is caused by mutations in the biotinidase gene resulting in loss of enzyme function. Neoscreen uses an automated ELISA assay to quantitate biotinidase activity. Samples with low activity are categorized into partial or total deficiency and further analyzed by a second tier DNA testing for common mutations to confirm the deficiency.
Congenital Adrenal Hyperplasia (CAH):
CAH is caused by a deficiency of the enzyme 21-hydroxylase. When this enzyme is deficient or inactive, the precursor 17-hydroxyprogesterone (17-OHP) accumulates. Neoscreen utilizes an ELISA method to detect the amount of 17-OHP molecules present. There is a special algorithm that correlate babies, birth weight, weeks of gestation which gives several cutoffs. Samples with high values are analyzed further with DNA analysis for common CAH gene mutations.
Cystic Fibrosis:
Cystic fibrosis is characterized by severe respiratory problems and pancreatic enzyme deficiencies. As a result of the pancreatic problems, children with cystic fibrosis often have a high blood level of immuno-reactive trypsinogen (IRT). Neoscreen uses an ELISA method to measure the level of IRT. Because an increased level of IRT can be caused by situations other than CF, Neoscreen employs a second tier of screening by testing for common mutations and polymorphisms of the Cystic Fibrosis gene.
Biochemical testing looks at the levels of specific markers and enzymes that are produced by different metabolic pathways in the body. Metabolic disorders are often the result of a missing or non-functional enzyme which catalyze a specific pathway. When an enzyme is missing, greatly reduced in quantity, or is not working properly, the body cannot follow its normal pathways. As a result, several harmful changes in body biochemistry can occur. These include accumulation of substrate, accumulation of precursors, redirection of substrate into alternate pathways.
Biochemical testing looks at the levels of these disturbances and can be used to detect several different metabolic conditions.
What disorders are detected with biochemical testing?
Biotinidase Deficiency:
Biotinidase deficiency is caused by mutations in the biotinidase gene resulting in loss of enzyme function. Neoscreen uses an automated ELISA assay to quantitate biotinidase activity. Samples with low activity are categorized into partial or total deficiency and further analyzed by a second tier DNA testing for common mutations to confirm the deficiency.
Congenital Adrenal Hyperplasia (CAH):
CAH is caused by a deficiency of the enzyme 21-hydroxylase. When this enzyme is deficient or inactive, the precursor 17-hydroxyprogesterone (17-OHP) accumulates. Neoscreen utilizes an ELISA method to detect the amount of 17-OHP molecules present. There is a special algorithm that correlate babies, birth weight, weeks of gestation which gives several cutoffs. Samples with high values are analyzed further with DNA analysis for common CAH gene mutations.
Cystic Fibrosis:
Cystic fibrosis is characterized by severe respiratory problems and pancreatic enzyme deficiencies. As a result of the pancreatic problems, children with cystic fibrosis often have a high blood level of immuno-reactive trypsinogen (IRT). Neoscreen uses an ELISA method to measure the level of IRT. Because an increased level of IRT can be caused by situations other than CF, Neoscreen employs a second tier of screening by testing for common mutations and polymorphisms of the Cystic Fibrosis gene.
