Md. Code Regs. 10.10.13.12

Current through Register Vol. 51, No. 25, December 13, 2024

Section 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 10.10.06.02B.

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;

(54) Severe combined immunodeficiency (SCID);

(55) Pompe disease;

(56) Fabry disease;

(57) Spinal muscular atrophy (SMA); and

(58) Mucopolysaccharidosis type I (MPS I).

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.

Md. Code Regs. 10.10.13.12

Regulations .12 adopted as an emergency provision effective January 1, 2009 (36:2 Md. R. 97); adopted permanently effective March 23, 2009 (36:6 Md. R. 490); amended effective 44:8 Md. R. 404, eff. 4/24/2017; amended effective 48:17 Md. R. 669, eff. 8/23/2021