Newborn Screening Archives - Insights

Second-Tier Assay for MPS I Newborn Screening Shows Remarkable Reduction of False Positives

Chris Bahnsen — Tue, 30 Jun 2020 14:30:00 +0000

Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that typically presents with progressive multisystem involvement in early childhood. This condition results from the deficiency of the enzyme, alpha-L-iduronidase (IDUA), which is responsible for breaking down complex sugars called glycosaminoglycans (GAGs).

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Updated Test Promises Fewer False Positives in Newborn Screening for Krabbe Disease

Chris Bahnsen — Thu, 28 May 2020 19:32:00 +0000

Mayo Clinic’s Biochemical Genetics Laboratory has announced an updated second-tier test to detect Krabbe disease (KD) that uses psychosine (PSY) as a disease marker. The new test method has significantly higher sensitivity to detect this devastating disease in infants and allows identification of KD patients with minimal psychosine elevations.

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Newborn Screen Follow-up for Severe Combined Immunodeficiency Syndrome (SCID) [Algorithm]

Alyssa Frank — Fri, 28 Jul 2017 19:07:52 +0000

The algorithm can be viewed here.

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The Metabolic Autopsy: Postmortem Screening in Cases of Sudden, Unexpected Death

Communiqué Archive — Wed, 16 Nov 2016 20:11:23 +0000

In cases of sudden or unexpected death, autopsy evaluation can include a biochemical analysis to identify deaths caused by fatty acid oxidation disorders.

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