1. 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.

2. B. First-Tier Tests; Testing Limitations.

   1. (1) Only the Department's public health laboratory may screen for the disorders listed in §C of this regulation.
   2. (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.

3. 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. (1) Biotinidase deficiency;
   2. (2) Congenital adrenal hyperplasia (CAH);
   3. (3) Hypothyroidism;
   4. (4) Galactosemia, galactose-1-phosphate uridyl transferase deficiency (GALT);
   5. (5) Epimerase Galactosemia, uridine diphosphate-galactose-4-epimerase deficiency (GALE);
   6. (6) Galactokinase Galactosemia, galactokinase deficiency (GALK1);
   7. (7) Sickle cell disease;
   8. (8) Sickle cell disease: S beta-thalessemia;
   9. (9) Sickle C disease: SC disease;
   10. (10) Other hemoglobin variants;
   11. (11) Phenylketonuria (PKU);
   12. (12) Hyperphenylalaninemia (Hyper-PHE);
   13. (13) Biopterin cofactor biosynthesis defects (BIOPT-BS);
   14. (14) Biopterin cofactor regeneration defects (BIOPT-REG);
   15. (15) Tyrosinemia, type I;
   16. (16) Tyrosinemia, type II;
   17. (17) Tyrosinemia, type III;
   18. (18) Homocystinuria;
   19. (19) Hypermethioninemia;
   20. (20) Branched chain ketoaciduria (BCK), also called maple syrup urine disease (MSUD);
   21. (21) Citrullinemia, type I;
   22. (22) Citrullinemia, type II;
   23. (23) Arginosuccinic aciduria;
   24. (24) Argininemia;
   25. (25) Methylmalonic acidemia, mutase deficiency (MMA);
   26. (26) Methylmalonic acidemia, adenosylcobalamin synthesis defects A and B (Cbl A, B);
   27. (27) Methylmalonic acidemia, adenosylcobalamin synthesis defects C and D (Cbl C, D);
   28. (28) Propionic acidemia (PA);
   29. (29) Isovaleric acidemia (IVA);
   30. (30) Glutaric aciduria type I (GA I);
   31. (31) 3-Hydroxy-3-methylglutaryl-CoA (HMG) lysase deficiency;
   32. (32) Isobutryl-CoA dehydrogenase (IBCD) deficiency;
   33. (33) 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG);
   34. (34) 3-Methlycrotonyl-CoA carboxylase deficiency (3MCC);
   35. (35) 3-Methlyglutaconyl-CoA hydratase deficiency (3MGA);
   36. (36) 2-Methyl-3-hydroxybutyrl-CoA dehydrogenase deficiency (2M3HBA);
   37. (37) Mitochondrial acetoacetyl-CoA thiolase (3-ketothiolase) deficiency (BKT);
   38. (38) Multiple carboxylase deficiency (MCD);
   39. (39) Malonic acidemia (MAL);
   40. (40) Medium chain acyl-CoA dehydrogenase deficiency (MCAD);
   41. (41) Medium chain ketoacyl-CoA thiolase deficiency (MCKAT);
   42. (42) Short chain acyl-CoA dehydrogenase deficiency (SCAD);
   43. (43) Short chain 3-hydroxy acyl Co-A dehydrogenase deficiency (SCHAD);
   44. (44) Very long chain acyl-CoA dehydrogenase deficiency (VLCAD);
   45. (45) 3-hydroxy long chain acyl-CoA dehydrogenase deficiency (LCHAD);
   46. (46) Multiple acyl-CoA dehydrogenase (MAD) or glutaric acidemia type II deficiency (GA II);
   47. (47) Carnitine/acylcarnitine translocase deficiency (translocase deficiency);
   48. (48) Carnitine palmitoyl transferase type I deficiency (CPT I);
   49. (49) Carnitine palmitoyl transferase type II deficiency (CPT II);
   50. (50) Carnitine uptake disorder;
   51. (51) Trifunctional protein deficiency (TFP);
   52. (52) 2,4-dienoyl-CoA reductase deficiency (DE RED);
   53. (53) Cystic fibrosis;
   54. (54) Severe combined immunodeficiency (SCID);
   55. (55) Pompe disease;
   56. (56) Fabry disease;
   57. (57) Spinal muscular atrophy (SMA);
   58. (58) Mucopolysaccharidosis type I (MPS I);
   59. (59) Mucopolysaccharidosis type II (MPS II);
   60. (60) X-linked Adrenoleukodystrophy (X-ALD);
   61. (61) Guanidinoacetate Methyltransferase Deficiency (GAMT); and
   62. (62) Infantile Krabbe Disease.

4. D. Approved Methods:

   1. (1) A permittee shall use:

      1. (a) A colorimetric method for testing for a biotinidase deficiency, which is the disorder listed at §C(1) of this regulation;
      2. (b) A fluorometric method when testing for galactosemia, which is the disorder listed at §C(4)—(6) of this regulation;
      3. (c) A fluorescent-linked immunoassay method when testing for the hereditary or congenital disorders listed in §C(2) and (3) of this regulation;
      4. (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;
      5. (e) Tandem mass-spectrometry when testing for the metabolic disorders listed in §C(11)—(52) of this regulation;
      6. (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
      7. (g) Real time polymerase chain reaction method when testing for severe combined immunodeficiency, which is listed in §C(54) of this regulation.
   2. (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.

Authority: Health-General Article, §§13-101—13-103, 13-108—13-112, 13-601—13-605, 17-201—17-206, 17-210,
17-211, 17-215, and 17-216, Annotated Code of Maryland

Effective date:

Regulations .01— .27 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)

Regulation .02A amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .03B amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .04B amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .06B amended as an emergency provision effective July 1, 2012 (39:15 Md. R. 962); amended permanently effective August 20, 2012 (39:16 Md. R. 1080)

Regulation .06B amended effective April 27, 2015 (42:8 Md. R. 608); April 14, 2025 (52:7 Md. R. 321)

Regulation .12 amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .12C amended effective August 23, 2021 (48:17 Md. R. 669); April 14, 2025 (52:7 Md. R. 321); May 25, 2026 (53:10 Md. R. 454)

Regulation .13 amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .14 amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .15 amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .16 amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .17 amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .18B amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .20A, C amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .21 amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .23 amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .24A, D amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .25 amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .26A amended effective April 24, 2017 (44:8 Md. R. 404)

Regulation .27C amended effective April 24, 2017 (44:8 Md. R. 404)