Rekord LOINC: 92672-5

Tylko wersja angielska ACTIVE

Powrót do listy LOINC
Szczegóły rekordu LOINC
Informacje podstawowe
Kod LOINC: 92672-5 FHIR
Long Common Name: Hydroxyglutarates and glutarate and ethylmalonate and methylsuccinate panel - DBS
Short Name: Gluts + Eth + Meth Pnl DBS
Status: ACTIVE
Class Type: 1
Fully Specified Name (FSN)
EN Oryginalna wersja angielska
Hydroxyglutarates & Glutarate & Ethylmalonate & Methylsuccinate panel : - : Pt : Bld.dot : Qn : -
Klasyfikacja
Class:
ENPANEL.CHEM
Consumer Name: -
Order/Observation: Order
Panel Type: Panel
Informacje dodatkowe
Units Required: -
Example Units: -
UCUM Units: -
Version Last Changed: 2.66
Definicja i opis

This panel is used to follow up out of range C4-acylcarnitine and glutarylcarnitine newborn screening results. The pattern of results for the individual analytes helps differentiate between short-chain Co-A dehydrogenase (SCAD) deficiency, isobutyryl-CoA dehydrogenase (IBDH) deficiency, and ethylmalonic encephalopathy, as well as glutaric acidemia type I (GA-1) and glutaric acidemia type II (GA-2).

Powiązane nazwy

2-Methylsuccinic acid; Blood; Chemistry; DBS; Dried blood spot; EMA; Ethylmalonic acid; Filter paper; FP; Glutarates + ethylmalonate + methylsuccinate pnl; Glutaric acid; Me-succinate; Methylsuccinic acid; Pan; PANEL.CHEMISTRY; Panl; Pentanedioiate; Pentanedioic acid; Pnl; Point in time; Pyrotartaric acid; QNT; Quan; Quant; Quantitative; Random; WB; Whole blood

Struktura panelu
Ładowanie...

Ładowanie struktury panelu...