Rekord LOINC: 92672-5
Tylko wersja angielska ACTIVE
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)
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 struktury panelu...