Guthrie test is a bacterial inhibition assay. p2- Thienylalanine is placed in the medium and normally causes the inhibition of Bacillus subtilis growth. However, in the presence of excess of phenylalanine, this inhibition is test is the least expensive screening method v overridden and bacterial growth occurs. Thi available for determining excess phenylalanine in the blood but other tests are used to confirm findings
Guthrie Test • is a bacterial inhibition assay. β2- Thienylalanine is placed in the medium and normally causes the inhibition of Bacillus subtilis growth. However, in the presence of excess of phenylalanine, this inhibition is overridden and bacterial growth occurs. This test is the least expensive screening method available for determining excess phenylalanine in the blood, but other tests are used to confirm findings
Disease Targets of Newborn Screening >>Phenylketonuria > Galactosemia ) Congenital hypothyroidism >>Sickle cell/hemoglobinopathies >>Cystic fibrosis Metabolic screen(Tms) >>others?
Disease Targets of Newborn Screening »Phenylketonuria »Galactosemia »Congenital hypothyroidism »Sickle cell/hemoglobinopathies »Cystic fibrosis »Metabolic screen (TMS) »others?
National nbs Status: 2006 ess than 10 disorders 10-19 disorders tests for Krabbe disease 20-29 disorders 30-39 disorders SOURCE: □□ The National Newbom Screening and Genetics Resource Center 10/11/06 40·49 disorders (does not inciude mandated testing that is not yet in practice or pilot programs) more than 50 disorders
National NBS Status: 2006
Genetics oFFICIAL JOURNAL OF THE AMERICAN COLLEGE OF MEDICAL GENETICS Medicine Newborn Screening: Toward a Uniform Screening Panel and System Content EXECUTIVE SUMMARY MAIN REPORT AESTRACT INTRODUCTION Developing a Uniform Screening Panel onthecover A. Background B. Methods Used for Assessing Conditions D. Discussion Minneapolis, MN SECTION II The Newborn Screening System: Program Evaluatlon, Costeffectiveness, Information Needs, and Future Needs A. The Newborn Screening System B Progan Evaluation. E Fature needs 52s FIGURES Figure 1: Raw Data for MCAD Deficiency(16 of 90 Total Respondens) Figure 2: Raw Data for PKU (16 ef 120 Totai Responde Figures 3a-3e Side- By-Side Comparison of MCAD and PKU for the Criteria User bmit manuscripts online Figure 4: final Sum of Mean Scores) for All Conditions Figure 5: Suney Scores Sorted by Testmg Platforms Figure 6: Scores by Test Availability (Test/No Test) Figure 7: Scores for All Con Figure 8: Distribution of Conditions into Screening Panel categories sss Figure 9: Suney Scores Sored by Testing Platforms Figure 10: National State Quality Assurance and Oversight for Newbom Screening Progra Components. 66s APPENDICES n Sreening Fac Sheet Validation e Fact Sheets Appendix 2: Condition Ewluation Tool Appendix 3: Comition ACT(ion )Sheets Appendix 4: Program Standards e Lippincott Appendix 5: HIPAA Guidance for Public Heaith Progra Williams wilkins
ACMG NBS Expert Group, 2006 Recommended screening for Cs ore panel of 29 diseases econdary targets of 25 diseases Total of 54 diseases should be included in NBS test panels Watson et al. Genet. Med. 2006: 8: 1s-1IS
ACMG NBS Expert Group, 2006 • Recommended screening for – Core panel of 29 diseases – Secondary targets of 25 diseases – Total of 54 diseases should be included in NBS test panels Watson et al. Genet. Med. 2006; 8:1S-11S