FY23 Metabolic Newborn Screening

Scope of Work Newborn Screening The University of Kentucky Research Foundation (UKRF) shall provide services to infants born in the eastern part of Kentucky that have been referred by the Kentucky Division of Laboratory Services or their primary care physician for abnormal newborn screenings. The counties that shall be included are: Adair, Anderson, Bath, Bell, Boone, Bourbon, Boyd, Boyle, Bracken, Breathitt, Campbell, Carroll, Carter, Casey, Clark, Clay, Clinton, Cumberland, Elliott, Estill, Fayette, Fleming, Floyd, Franklin, Gallatin, Garrard, Grant, Green, Greenup, Harlan, Harrison, Jackson, Jessamine, Johnson, Kenton, Knott, Knox, Laurel, Lawrence, Lee, Leslie, Letcher, Lewis, Lincoln, Madison, Magoffin, Martin, Mason, McCreary, Menifee, Mercer, Montgomery, Morgan, Nicholas, Owen, Owsley, Pendleton, Perry, Pike, Powell, Pulaski, Robertson, Rockcastle, Rowan, Russell, Scott, Taylor, Wayne, Whitley, Wolfe, Woodford. Regardless of an individual’s ability to pay, UK shall provide the services enumerated below for the following conditions: 1. 2-Methyl-3-hydroxybutyric aciduria (2M3HBA); 2. 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBDH); 3. 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC); 4. 3-Methylglutaconic aciduria (3MGA); 5. Argininemia (ARG); 6. Argininosuccinate academia (ASA); 7. Beta ketothiolase (BKT); 8. Biotinidase (BIOT); 9. Carnitine acylcarnitine translocase deficiency (CACT); 10. Carnitine palmitoyl transferase deficiency type I (CPT-I); 11. Carnitine palmitoyl transferase deficiency type II (CPT-II); 12. Carnitine uptake defect (CUD); 13. Citrullinemia type I (CIT-I); 14. Citrullinemia type II (CIT-II); 15. Classic Galactosemia (GAL); 16. Congenital adrenal hyperplasia (CAH); 17. Congenital hypothyroidism (CH); 18. Critical congenital heart disease (CCHD); 19. Cystic fibrosis (CF); 20. Ethylmalonic encephalopathy (EE); 21. Glutaric academia type I (GA-I); 22. Glutaric academia type II (GA-II); 23. Glycogen Storage Disease Type II (GSO-11), 24. Homocystinuria (HCY); 3-hydroxy 3-methylglutaric aciduria (HMG); 25. Hypermethioninemia (MET); 26. Hyperphenylalaninemia (H-PHE); 27. Isobutyryl-CoA dehydrogenase deficiency (IBG); 28. Isovaleric academia (IVA); 29. Krabbe Disease (KD); 30. Long-chain hydroxyacyl Co-A dehydrogenase deficiency (LCHAD); 31. Malonic academia (MAL); 32. Maple syrup urine disease (MSUD); 33. Medium-chain acyl Co-A dehydrogenase deficiency (MCAD); 34. Methylmalmonic academia mutation zero (MUT); 35. Methylmalonic acidemia type Cbl A,B (MMA Cbl A,B); 36. Methylmalonic academia type Cbl C,D (MMA Cbl C,D); 37. Mucopolysaccharidosis Type I (MPS-1, Hurler Disease); 38. Multiple carboxylase deficiency (MCD); 39. Non-ketotic hyperglycinemia (NKHG); 40. Pompe Disease; 41. Proprionic academia (PA); Phenylketonuria (PKU); 42. Severe combined immunodeficiency disease (SCID); 43. Short-chain acyl-CoA dehydrogenase deficiency (SCAD); 44. Sickle cell disease (Hb S/S); 45. Sickle cell S-##thalassemia (Hb S/Th); 46. Sickle hemoglobin-C disease (Hb S/C); 47. Spinal Muscular Atrophy (SMA) 48. Trifunctional protein deficiency (TFP); 49. Tyrosinemia type I (TYR-I); 50. Tyrosinemia type II (TYRII); 51. Tyrosinemia type III (TYR-III); 52. Various Hemoglobinopathies including Hb E (Var Hbg); 53. Very long chain acyl-CoA dehydrogenase deficiency (VLCAD); and 54. X-linked adrenoleukodystrophy (X-ALD). 1. Provide definitive diagnostic evaluations for all infants born in eastern Kentucky whose initial screening tests resulted in a positive test given by a hospital or their primary care physician. These diagnoses are to be recorded on the Kentucky Newborn Screening case report form and submitted to the follow-up program, after diagnosis is confirmed within the following timeframes: a. 30 days for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Critical Congenital Heart Defects; b. 120 days for Biotinidase Deficiency, Cystic Fibrosis, Galactosemia, Severe Combined Immunodeficiency and all disorders utilizing tandem mass spectrometry for screening; and c. 270 days for Hemoglobinopathies. 2. Provide specialty medical service professionals in the areas of Endocrinology, Pulmonology, Hematology, Immunology/Infectious Disease, Cardiology and Metabolic/Genetics. 3. Provide timely evaluation (5 days) and diagnostic testing, per established protocol on file with DPH, to confirm or rule out the diagnosis of a disorder included in the Kentucky newborn screening panel, pursuant to KRS 214.155, for infants identified by newborn screening to be at risk. 4. Provide long-term follow-up medical treatment and consultation or referral to appropriate provider for all infants identified through newborn screening procedures who have a confirmed diagnosis. 5. Inform the Division of Maternal and Child Health (MCH) Newborn Screening Follow-up Program within three (3) business days of any infant that the University is unable to locate for follow-up. 6. Provide the family/caregiver, of all children identified by the newborn screening process, access to a social worker to assist with entry into appropriate services and programs. 7. Maintain single contact person for referrals. The contact person shall have a substitute that has been cross-trained to provide coverage when the contact person is absent. 8. Maintain a quality assurance program for identifying patients that cannot be found for follow-up; and submit to the Division of Maternal and Child Health (MCH) within the Kentucky Department for Public Health (KDPH). 9. Participate in the state newborn screening advisory work group and provide medical consultation to the newborn screening program. 10. Develop and present newborn screening education to UK Department of Pediatrics and other health care professional groups annually. 11. Collaborate with the newborn screening follow-up program to develop or revise parent, public and provider education related to newly added disorders or current disorders. 12. Provide nutritional counseling and follow-up nutrition care to families of infants, children and adults with nutritionally manageable conditions. 13. For patients without another payment source, to manage their metabolic condition with metabolic foods and formula, provide them with the Kentucky Metabolic Foods and Formula Program packet that includes the Financial Release of Information Form, Authorization for Services. Provide the Certificate of Medical Necessity. Provide ongoing support to assure documentation is updated annually. 14. Ensure that funds are utilized only to support personnel providing medical services to infants identified with one of the state mandated newborn screening conditions.