First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS-I), Niemann-Pick types A and B, and Pompe (Glycogen storage disorder type II)
First-tier newborn screen for the peroxisomal disorder: X-linked adrenoleukodystrophy; may also detect Zellweger spectrum disorders
Testing performed in the context of newborn screening only. For diagnostic testing, or at a clinical biochemical geneticist's discretion, testing may be changed to PLSD / Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot.
Lysosomal storage disorders are a diverse group of inherited diseases characterized by the intracellular accumulation of macromolecules leading to cell damage and organ dysfunction.
Peroxisomal disorders such as X-linked adrenoleukodystrophy are caused by a defect in a single peroxisomal enzyme/transporter, whereas Zellweger syndrome spectrum (ZSS) disorders are caused by peroxisome biogenesis defects.
Due to the improved outcomes associated with presymptomatic intervention, some states have recently added select lysosomal storage disorders and peroxisomal disorders to their newborn screening programs.
Additional biochemical or molecular testing is required to confirm a diagnosis if enzyme deficiency is detected by this screening test.
First-tier results will be reviewed and second-tier screening performed at a clinical biochemical geneticist's discretion at no additional charge. This minimizes the false-positive rate and maximizes the positive predictive value of screening for these lysosomal storage disorders.
The following algorithms are available in Special Instructions:
-Newborn Screen Follow-up for Gaucher Disease
-Newborn Screen Follow-up for Infantile Krabbe Disease
-Newborn Screen Follow-up for Mucopolysaccharidosis Type I
-Newborn Screen Follow-up for Niemann Pick Type A and B
-Newborn Screen Follow-up for Pompe Disease
-Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
For more information, see the following Newborn Screening ACT Sheets:
-Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A
-Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase
-Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase
-Newborn Screening Act Sheet Mucopolysaccharidosis Type I: Decreased Alpha-L-Iduronidase
-Newborn Screening Act Sheet Niemann-Pick A/B Disease: Decreased Acid Sphingomyelinase
-Newborn Screening Act Sheet Pompe Disease: Decreased Acid Alpha-Glucosidase
-Newborn Screening Act Sheet X-Linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids
