Test ID: SNS
Supplemental Newborn Screen, Blood Spot
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Presymptomatic identification of disorders to allow for early 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 include: | ||
| Amino Acid Metabolism | Fatty Acid Metabolism | Organic Acid Metabolism |
| Argininemia | Short-chain acyl- CoA dehydrogenase (SCAD) deficiency | Glutaric academia Type I (GA-1) |
| Argininosuccinic aciduria | Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | Isovaleric acidemia |
| Citrullinemia | Mitochondrial trifunctional protein (TFP) deficiency | 3-Ketothiolase deficiency |
| Homocystinuria | Long-chain 3-hydroxy acyl-CoA dehydro genase (LCHAD) deficiency | 3-Methylcrotonyl- CoA carboxylase deficiency |
| Maple syrup urine disease (MSUD) | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency | 3-Methyl-glutaconyl- CoA hydratase deficiency |
| Phenylketonuria and other causes of hyperphenylalaninemia | Carnitine palmitoyl- transferase deficiency Type II, (CPT-2) | Multiple carboxylase deficiency |
| Tyrosinemia Type I | Carnitine-acylcarnitine translocase (CACT) deficiency | Methylmalonic acidemias |
| Tyrosinemia Type II | Glutaric acidemia Type II (GA-2; multiple acyl- CoA dehydrogenase deficiency) 2,4-Dienoyl-CoA reductase deficiency 3-Hydroxy-3- methylglutaryl-CoA (HMG-CoA) lyase deficiency | Propionic academia
2-Methylbutyryl-CoA dehydrogenase deficiency Isobutyryl-CoA dehydrogenase 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).
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
The following algorithms are available in Special Instructions:
-Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitines (also applies to any plasma C8, C6, and C10 acylcarnitine elevations)
-Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma C4 acylcarnitine elevation)
-Newborn Screening Follow-up for Isolated C5 Acylcarnitine Elevations (also applies to any plasma C5 acylcarnitine elevation)
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
- Request for Original Newborn Screening Card
- Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma C4 acylcarnitine elevations)
- Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitine (also applies to any plasma C8, C6, and C10 acylcarnitine elevations)
- Newborn Screening Follow-up for Isolated C5 Acylcarnitines Elevations (also applies to any plasma C5 acylcarnitine elevation)
Method Name A short description of the method used to perform the test
Tandem Mass Spectrometry (MS/MS)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Expanded Newborn Screen, Blood Spot
Newborn Screen
Newborn Screening
Newborn Supplemental Screen, Blood Spot
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