79563-3

LOINC 2.82

Mucopolysaccharidosis type I newborn screening panel

MPS I NBS Pnl DBS

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.

Component

  • Mucopolysaccharidosis type I newborn screening panel

Specimen / system

  • Bld.dot

Class

  • PANEL.CHEM

Property

  • -

Scale

  • -

Related names

  • alpha-L-Iduronidase; Asympt; Asymptomatic; Blood; Chemistry; DBS; Dried blood spot; Filter paper; FP; Gyn; Gynecology; IDUA; MPS I; MPS I NBS Pnl; MPS-I; NB Screen Pnl; NBS; New born; OB; ObGyn; Obstetrics; Pan; PANEL.CHEMISTRY; Panl; Pnl; Point in time; Random; Scn; WB; Whole blood

Index terms

  • alpha-L-Iduronidase
  • Asympt
  • Asymptomatic
  • Blood
  • Chemistry
  • DBS
  • Dried blood spot
  • Filter paper
  • FP
  • Gyn
  • Gynecology
  • IDUA
  • MPS I
  • MPS I NBS Pnl
  • MPS-I
  • NB Screen Pnl
  • NBS
  • New born
  • OB
  • ObGyn
  • Obstetrics
  • Pan
  • PANEL.CHEMISTRY
  • Panl
  • Pnl
  • Point in time
  • Random
  • Scn
  • WB
  • Whole blood