Unit Code 82594:
Supplemental Newborn Screen, Blood Spot

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

Panel includes all disorders recommended by the American

College of Medical Genetics (Genet Med 2006;8[Supplement]:

1S-11S).

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.

Supplemental Newborn Screen, BS

SNS

Blood Spots

Expanded Newborn Screen, Blood Spot

Newborn Screen

Newborn Screening

Newborn Supplemental Screen, Blood Spot

Soft-SNS