The Importance Of Screening Testing

Introduction:

Screening tests are group of tests that help identify people with increased risk for a conditions or disease before they have symptoms or even realize they may be at risk so that preventive measures can be taken .Screening tests help detect disease in earliest stage .

Newborns screening tests is a public health activity aimed at early identification of newborn affected with certain genetic or metabolic conditions. Early diagnosis and treatment of these conditions has been shown in many cases to reduce morbidity, premature death , mental retardation , and developmental disabilities

History:

Newborn screening programs in the US began with the work of Dr. Robert Guthrie, who in the 1960's developed a screening test for phenylketonuria.

Guthrie also introduced a system for collection and transportation of blood samples on filter paper, cost effective wide scale genetic screening became possible.

Importance of newborns screening tests:

These group of screening test important in early detection of rare congenital and metabolic diseases ,The benefits of early detection it is to start early treatment that lead to prevent irreversible damage to the child’s development.

When the test is

Involved tests :

Tests that are involved its varied from country to country ,What they all have in common is that without timely treatment they will cause severe harm to the child .Fore examples of these disorders are CH, CAH, CF , G6PD, HEMOGLBINOPATHIES, GALACTOSEMIA , SCID , PHENYLKETONURIA , METABOLIC DISORDERS.

Implementation of newborn screening tests in clinical laboratories:

IT can be done automated by using different types of instruments and principles based on the disorders

BIOTINIDASE DEFICIENY:

Newborns with biotinidase deficiency appear normal at birth.Deficieny developed over the time including several . metabolic ketoacidosis and organic aciduria. Symptoms include ataxia, hypotonia, developmental delay.

Principle: it can be done by using blood spot, Quantitative and semi- quantitative enzyme activity can measured, Enzymatic reactions with a solid phase time –resolved immunofluorescence assay. The amide bond in EU-labeled biotin is cleaved by the biotinidase present in the sample.

Congenital adrenal