Bloodwork
LL837-6

NBS AA susc

Answer list
LL837-6
Answers
34

Answers

AnswerCodeScore
None LA137-2
CIT-I or CIT-II or ASA LA12569-2
HCY or MET or CBL C LA12570-0
PKU or BIPT-BS or BIOPT-REG or H-PHE LA12571-8
TYR-1 or TYR-II or TYR-III LA12572-6
Maple syrup urine disease LA21168-2
Argininemia LA21161-7
Argininosuccinic aciduria LA21162-5
Carbamoyl-phosphate synthase deficiency LA12484-4
Citrullinemia, type I LA12482-8
Citrullinemia, type II LA12483-6
Dihydrolipoamide dehydrogenase deficiency LA12490-1
Biopterin defect in cofactor biosynthesis LA12472-9
Biopterin defect in cofactor regeneration LA12473-7
Girate atrophy of the retina LA12502-3
Hypermethioninemia LA12512-2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome LA12497-6
Hyperphenylalaninemia (variant, benign) LA12500-7
Hyperprolinemia type I LA12521-3
Hyperprolinemia type II LA12522-1
Cobalamin E disease LA12480-2
Guanidinoacetate N-methyltransferase deficiency LA30113-7
L-arginine:glycine amidinotransferase deficiency LA30114-5
Methylene tetrahydrofolate reductase deficiency LA12514-8
Nonketotic hyperglycinemia (glycine encephalopathy) LA12516-3
Ornithine transcarbamylase deficiency LA12518-9
Classic phenylketonuria LA12520-5
Pyroglutamic acidemia LA12469-5
Pyruvate carboxylase deficiency LA12519-7
Tyrosinemia, type I LA12528-8
Tyrosinemia, type II LA12529-6
Tyrosinemia, type III LA12530-4
Valinemia LA12503-1
X-linked creatine transporter (CRTR) deficiency LA30492-5

Used by 1 tests

LOINC
57793-2