Early diagnosis of hemoglobin disorders and Thalassemias are become more important due to a high carrier frequency and ease of global migration. In a prospective study of over 5,000 samples, we investigated the use of High-Resolution Mass Spectrometry (HR/MS) as an improved tool for identification of hemoglobinopathes and β-Thalassemias in newborn screening. Our results show HR/MS is a suitable method for newborn screening. You can read the full details in Clinical Chemistry and Laboratory Medicine. Read here.
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Hemoglobinopathies and β-Thalassemia: Investigating High-Res Mass Spectrometry
Post on Diagnostics
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Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease
Acid sphingomyelinase deficiency (ASMD), commonly called Niemann-Pick A/B disease, is an autosomal recessively inherited lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase (ASM)… Read more
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Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected,… Read more
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Lyso-GL-3: An important Fabry biomarker associated with adverse clinical outcomes
Biomarkers in Rare Diseases play a dual and significant role in supporting improved clinical outcomes. In Fabry Disease (FD), the glycosphingolipid globotriaosylceramide (Gb3/GL-3) and its… Read more
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New testing options for Cerebrotendinous Xanthomatosis (CTX)
About CTX: CTX (cerebrotendinous xanthomatosis) is a rare and serious disease of bile acid metabolism with an estimated incidence of about 1:50,000. The disease is… Read more
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The incidence of acid sphingomyelinase deficiency (ASMD) in cases of suspected Gaucher disease, genotype-phenotype correlation together with Lyso-SPM biomarker
This data was presented during the 11 February 2021 poster session of the 17th WORLDSymposium (virtual). Abstract In this prospective study, samples from 14,830 individuals… Read more
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At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
Pompe disease, also known as glycogen storage disease type II (GSD II), is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme… Read more