Bloodwork
LL838-4

NBS FA susc

Answer list
LL838-4
Answers
22

Answers

AnswerCodeScore
None LA137-2
Carnitine palmitoyltransferase type I deficiency LA12485-1
Carnitine uptake deficiency/carnitine transport defect LA12487-7
CPT-II or CACT LA12573-4
LCHAD or TFP LA12574-2
Medium-chain acyl-CoA dehydrogenase deficiency LA12509-8
MCAD or SCAD or GA-2(MADD) LA12575-9
SCAD or EMA or IBG or GA-2 (MADD) LA12576-7
Very long-chain acyl-CoA dehydrogenase deficiency LA12531-2
2,4-Dienoyl-CoA reductase deficiency LA12489-3
Carnitine acylcarnitine translocase deficiency LA12475-2
Carnitine palmitoyltransferase type II deficiency LA12486-9
Glutaric acidemia type II LA12495-0
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency LA12507-2
Carnitine uptake deficiency/carnitine transport defect (maternal) LA12488-5
Medium-chain ketoacyl-CoA thiolase deficiency LA12511-4
Short-chain acyl-CoA dehydrogenase deficiency LA12524-7
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency LA12525-4
Trifunctional protein deficiency LA12527-0
CUD or CUD (mat) or CPT-Ia LA12916-5
GA-1 or GA-2 LA12917-3
X-linked adrenoleukodystrophy LA25796-6

Used by 1 tests

LOINC
57792-4