Unit Code 82594:
Supplemental Newborn Screen, Blood Spot
Useful For
Suggests clinical disorders or settings where the test may be helpful
Early identification of disorders before symptoms manifest to allow
for presymptomatic initiation of treatment and consequent
improvement in the long-term prognosis of affected patients.
Early diagnosis may also minimize complications and help
avoid unnecessary diagnostic testing and identify families for
whom prenatal genetic counseling may be helpful.
Disorders detectable by amino acid, acylcarnitine, and
succinylacetone profiling using MS/MS:
Amino Acid Fatty Acid Organic Acid
Metabolism Metabolism Metabolism
Argininemia Short-chain acyl- Glutaric acidemia
CoA dehydrogenase type I (GA-1)
(SCAD) deficiency
Argininosuccinic Medium-chain acyl- Isovaleric
aciduria CoA dehydrogenase acidemia
(MCAD) deficiency
Citrullinemia Mitochondrial 3-Ketothiolase
trifunctional protein deficiency
(TFP) deficiency
Homocystinuria Long-chain 3-hydroxy 3-Methylcrotonyl-
acyl-CoA dehydro- CoA carboxylase
genase (LCHAD) deficiency
deficiency
Maple syrup urine Very long-chain acyl- 3-Methylglutaconyl-
disease (MSUD) CoA dehydrogenase CoA hydratase
(VLCAD) deficiency deficiency
Phenylketonuria Carnitine palmitoyl- Multiple carboxy-
and other causes transferase deficiency lase deficiency
of Type II, (CPT-2)
hyperphenylalaninemia
Tyrosinemia Type I Carnitine-acylcarnitine Methylmalonic
translocase (CACT) acidemias
deficiency
Tyrosinemia Type II Glutaric acidemia type Propionic acidemia
II (GA-2; multiple acyl-
CoA dehydrogenase 2-Methylbutyryl-CoA
deficiency) dehydrogenase
2,4-Dienoyl-CoA deficiency
reductase deficiency Isobutyryl-CoA
3-Hydroxy-3- dehydrogenase
methylglutaryl-CoA deficiency
(HMG-CoA) lyase
deficiency
Genetics Test Information
Provides information that may help with selection of the correct test or proper submission of the test request
Panel includes all disorders recommended by the American
College of Medical Genetics (Genet Med 2006;8[Supplement]:
1S-11S).
Special Instructions and Forms
Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name
A short description of the method used to perform the test
Tandem Mass Spectrometry (MS/MS)
Testing is only appropriate for patients <1 week of age as
part of prospective newborn screening. This test is
supplemental and not intended to replace state mandated
newborn screening. Test is not appropriate for metabolic
screening of symptomatic patients.
Reporting Name
A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Supplemental Newborn Screen, BS
Ordering Mnemonic
An alternate Mayo code (to the Unit Code) for a test
SNS
Aliases
Lists additional common names for a test, as an aid in searching
Blood Spots
Expanded Newborn Screen, Blood Spot
Newborn Screen
Newborn Screening
Newborn Supplemental Screen, Blood Spot
Soft-SNS


