Sec. 10.10.13.12. First-Tier, Supplemental, and Second-Tier Tests

A. First-Tier Tests; Requirement. The Department’s public health laboratory shall perform first-tier tests on all screening blood-spot specimens collected from a newborn infant.

B. First-Tier Tests; Testing Limitations.

(1) Only the Department's public health laboratory may screen for the disorders listed in §C of this regulation.

(2) A permittee may perform a supplemental or a second-tier test only when the test is requested by an individual authorized to request a medical laboratory test as provided in COMAR 10.10.06.02.

C. First-Tier Tests. The Department’s public health laboratory shall perform a first-tier test on a newborn infant to screen for the following hereditary and congenital disorders, which are approved for screening by the Council and the Secretary:

(1) Biotinidase deficiency;

(2) Congenital adrenal hyperplasia (CAH);

(3) Hypothyroidism;

(4) Galactosemia, galactose-1-phosphate uridyl transferase deficiency (GALT);

(5) Epimerase Galactosemia, uridine diphosphate-galactose-4-epimerase deficiency (GALE);

(6) Galactokinase Galactosemia, galactokinase deficiency (GALK1);

(7) Sickle cell disease;

(8) Sickle cell disease: S beta-thalessemia;

(9) Sickle C disease: SC disease;

(10) Other hemoglobin variants;

(11) Phenylketonuria (PKU);

(12) Hyperphenylalaninemia (Hyper-PHE);

(13) Biopterin cofactor biosynthesis defects (BIOPT-BS);

(14) Biopterin cofactor regeneration defects (BIOPT-REG);

(15) Tyrosinemia, type I;

(16) Tyrosinemia, type II;

(17) Tyrosinemia, type III;

(18) Homocystinuria;

(19) Hypermethioninemia;

(20) Branched chain ketoaciduria (BCK), also called maple syrup urine disease (MSUD);

(21) Citrullinemia, type I;

(22) Citrullinemia, type II;

(23) Arginosuccinic aciduria;

(24) Argininemia;

(25) Methylmalonic acidemia, mutase deficiency (MMA);

(26) Methylmalonic acidemia, adenosylcobalamin synthesis defects A and B (Cbl A, B);

(27) Methylmalonic acidemia, adenosylcobalamin synthesis defects C and D (Cbl C, D);

(28) Propionic acidemia (PA);

(29) Isovaleric acidemia (IVA);

(30) Glutaric aciduria type I (GA I);

(31) 3-Hydroxy-3-methylglutaryl-CoA (HMG) lysase deficiency;

(32) Isobutryl-CoA dehydrogenase (IBCD) deficiency;

(33) 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG);

(34) 3-Methlycrotonyl-CoA carboxylase deficiency (3MCC);

(35) 3-Methlyglutaconyl-CoA hydratase deficiency (3MGA);

(36) 2-Methyl-3-hydroxybutyrl-CoA dehydrogenase deficiency (2M3HBA);

(37) Mitochondrial acetoacetyl-CoA thiolase (3-ketothiolase) deficiency (BKT);

(38) Multiple carboxylase deficiency (MCD);

(39) Malonic acidemia (MAL);

(40) Medium chain acyl-CoA dehydrogenase deficiency (MCAD);

(41) Medium chain ketoacyl-CoA thiolase deficiency (MCKAT);

(42) Short chain acyl-CoA dehydrogenase deficiency (SCAD);

(43) Short chain 3-hydroxy acyl Co-A dehydrogenase deficiency (SCHAD);

(44) Very long chain acyl-CoA dehydrogenase deficiency (VLCAD);

(45) 3-hydroxy long chain acyl-CoA dehydrogenase deficiency (LCHAD);

(46) Multiple acyl-CoA dehydrogenase (MAD) or glutaric acidemia type II deficiency (GA II);

(47) Carnitine/acylcarnitine translocase deficiency (translocase deficiency);

(48) Carnitine palmitoyl transferase type I deficiency (CPT I);

(49) Carnitine palmitoyl transferase type II deficiency (CPT II);

(50) Carnitine uptake disorder;

(51) Trifunctional protein deficiency (TFP);

(52) 2,4-dienoyl-CoA reductase deficiency (DE RED);

(53) Cystic fibrosis; and

(54) Severe combined immunodeficiency (SCID).

D. Approved Methods:

(1) A permittee shall use:

(a) A colorimetric method for testing for a biotinidase deficiency, which is the disorder listed at §C(1) of this regulation;

(b) A fluorometric method when testing for galactosemia, which is the disorder listed at §C(4)-(6) of this regulation;

(c) A fluorescent-linked immunoassay method when testing for the hereditary or congenital disorders listed in §C(2) and (3) of this regulation;

(d) Isoelectric focusing followed by high-performance liquid chromatography when testing for sickle cell disease, which is the disorder listed at §C(7)-(10) of this regulation;

(e) Tandem mass-spectrometry when testing for the metabolic disorders listed in §C(11)-(52) of this regulation;

(f) IRT/IRT (immunoreactive trypsinogen/immuno-reactive trypsinogen) when testing for cystic fibrosis, which is the disorder listed in §C(53) of this regulation; and

(g) Real time polymerase chain reaction method when testing for severe combined immunodeficiency, which is listed in §C(54) of this regulation.

(2) A permittee shall have 60 days from the amendment's effective date to comply with any amendment made by the Secretary to §D of this regulation.