79563-3
LaboratoryMucopolysaccharidosis type I newborn screening panel
Definition
The Mucopolysaccharidosis type I (MPS I) newborn screening panel is used to report the results of newborn screening for the diagnosis of MPS I, also known as Hurler syndrome, an inherited disorder in which the body is unable to produce an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). MPS I is caused by mutations in the IDUA gene and has an autosomal recessive pattern of inheritance.
LOINC 6-Axis Classification
Component
Mucopolysaccharidosis type I newborn screening panel
Property
-
Time Aspect
Pt
System
Bld.dot
Scale Type
-
Method Type
N/A
Details
Class
PANEL.CHEM
Order/Observation
Order
Short Name
MPS I NBS Pnl DBS
Display Name
Mucopolysaccharidosis type I NBS panel (DBS)
Related Names
Frequently Asked Questions
What is LOINC code 79563-3?
LOINC code 79563-3 identifies "Mucopolysaccharidosis type I newborn screening panel". The Mucopolysaccharidosis type I (MPS I) newborn screening panel is used to report the results of newborn screening for the diagnosis of MPS I, also known as Hurler syndrome, an inherited disorder in which the body is unable to produce an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). MPS I is caused by mutations in the IDUA gene and has an autosomal recessive pattern of inheritance.
What does 79563-3 measure?
This code measures Mucopolysaccharidosis type I newborn screening panel in Bld.dot. It belongs to the PANEL.CHEM class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.