Hydroxyglutarates & Glutarate & Ethylmalonate & Methylsuccinate panel:-:Pt:Bld.dot:Qn:

Preferred Label : Hydroxyglutarates & Glutarate & Ethylmalonate & Methylsuccinate panel:-:Pt:Bld.dot:Qn:;

LOINC status : ACTIVE;

LOINC display name : Hydroxyglutarates and glutarate and ethylmalonate and methylsuccinate panel (DBS);

LOINC long common name : Hydroxyglutarates and glutarate and ethylmalonate and methylsuccinate panel - DBS;

LOINC short name : Gluts Eth Meth Pnl DBS;

LOINC description : 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).;

Details

Origin ID

92672-5;

UMLS CUI

C5144567;

Has component
- Ethylmalonate [LOINC component]
- Glutarate [LOINC component]
- Hydroxyglutarates and glutarate and ethylmalonate and methylsuccinate panel [LOINC component]
- Methylsuccinate [LOINC component]
Has system
- Blood [LOINC System]
- DBS [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Panel of LOINC codes
- 2-Hydroxyglutarate:SCnc:Pt:Bld.dot:Qn: [LOINC code]
- 3-Hydroxyglutarate:SCnc:Pt:Bld.dot:Qn: [LOINC code]
- Ethylmalonate:SCnc:Pt:Bld.dot:Qn: [LOINC code]
- Glutarate:SCnc:Pt:Bld.dot:Qn: [LOINC code]
- Methylsuccinate:SCnc:Pt:Bld.dot:Qn: [LOINC code]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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