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Supplemental Newborn Screening by MS/MS-Based Second-Tier Testing



ACMG* Uniform Panel

Slide 4

July 2008

To achieve a more uniform screening menu, the American College of Medical Genetics (ACMG) in 2006, recommended that each baby regardless of birthplace, should be screened for at least 29 conditions. Twenty of these core conditions can be identified in a single dried blood spot punch in tandem mass spectrometry. These include inborn errors of amino acid metabolism, such as PKU, inborn errors of fatty acid oxidation and inborn errors of organic acid metabolism. Hemoglobin electrophoresis allows detection o f sickle cell disease and other hemoglobinopathies. Biotinidase deficiency, cystic fibrosis, congenital adrenal hyperplasia, congenital hypothyroidism, galactosemia, and hearing loss each are screened for using specific tests. Hearing loss is actually determined at the baby’s bedside by an audiology exam, so hearing loss is a condition that does not make use of the dried blood spot specimen.

In addition to these 29 core conditions, the ACMG identified 25 so-called secondary targets. These include conditions that are included they are part of the differential diagnosis of the core conditions. Many of these are also clinically significant but no efficacious treatment is yet available and others are of uncertain clinical significance. Twenty-two of the secondary targets are identified by tandem mass spectrometry.

ACMG* Uniform Panel

 


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