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Home » Topics & Services » Life Stages & Populations » Newborn Screening » Metabolic Screening

Metabolic Screening

Parent Information 

  • A Baby's First Step in Life: A Newborn Screening Guide for Parents - (En Español)
  • Cystic Fibrosis: Information for Parents and Families
  • Cystic Fibrosis: My Baby had a Positive CF Newborn Screening Test
  • Disorder Information - (En Español)
  • Hemoglobin C Trait 
  • Hemoglobin SC Disease
  • Sickle Cell Beta Thalassemia Disease 
  • Sickle Cell Disease and Sickle Cell Carrier Status - (En Español)
  • Newborn Metabolic Screening Disorder List 

Fact Sheets for Physicians and Other Health Care Providers

  • ALD Fact Sheet
  • Beta Thalassemia Disease
  • Biotinidase Definciency
  • Born Too Soon Premature Birth Information
  • Congenital Adrenal Hyperplasia
  • Congenital Hypothyroidism
  • Cystic Fibrosis
  • Fabry Disease
  • Galactosemia
  • Gaucher Disease
  • Hemoglobin C Disease
  • Hemoglobin D Disease (D-Los Angeles, D-Punjab, D-Ibadan)
  • Hemoglobin E Disease
  • Hemoglobin H Disease (Alpha Thalassemia)
  • Hemoglobin SC Disease
  • Homocystinuria
  • Krabbe Disease
  • Maple Syrup Urine Disease
  • MCAD and Other Fatty Acid Oxidation Disorders
  • Mucopolysaccharidosis Type I (MPS I) Disease (Hurler Syndrome)
  • Mucopolysaccharidosis Type II (MPS II) Disease (Hunter Syndrome)
  • Niemann Pick Disease
  • Organic Acid Disorders
  • Phenylketonuria
  • Pompe Disease
  • Severe Combined Immune Deficiency
  • Sickle Cell Beta Thalassemia Disease
  • Sickle Cell Disease
  • Spinal Muscular Atrophy
  • Tyrosinemia
  • Urea Cycle Disorders
  • 5-Oxoprolinuria (Glutathione synthetase deficiency)

 

  • Genomics
    • BRCA1 & BRCA2
    • DNA Day
    • Direct-To-Consumer Testing
    • Down Syndrome
    • Genetic Counseling
    • Lynch Syndrome: For Health Care Professionals
    • Lynch Syndrome: For the General Public
    • Prenatal Diagnostic Tests
    • Prenatal Screening Tests
  • Disability & Health
    • Disability and Arthritis
    • Disability and Chronic Disease
    • Falls
    • Preparing for a Doctor's Visit
  • Men’s Health
    • Chronic Diseases and Men
    • Finding Good Healthcare
    • For Women Only
    • Frequently Asked Questions
    • Screening Information
    • Self Screening
    • Tips for Healthy Living
    • Top 10 Causes of Death in Men
  • Newborn Screening
    • Critical Congenital Heart Disease (CCHD)
    • Genetic and Metabolic Disease Advisory Committee
    • Metabolic Screening
    • Newborn Hearing
    • Newborn Screening Records
  • Rural & Underserved Populations
    • Allied Health Care Professional Scholarship Program
    • Illinois National Health Service Corps State Loan Repayment Program (SLRP)
    • Illinois Underserved Physician Workforce Program
    • J-1 Visa Waiver Program
    • Medical Student Scholarship Program
    • National Interest Waiver
    • Nursing Education Scholarship Program
    • Podiatric Medicine Scholarship Program
    • Shortage Designations
  • Women's Health
    • Family Planning
    • IL Breast & Cervical Cancer Program (IBCCP)
    • IL WISEWOMAN Program
  • LGBTQ Health
    • HIV/AIDS
    • Infectious Diseases
  • Maternal, Child & Family Health
    • Child Health
      • Adverse Childhood Experiences
      • Preventing Child Abuse
    • Perinatal Health
    • Perinatal Levels of Care
    • Adolescent Health
    • Maternal Health
    • School Health Program
    • PANDAS / PANS
  • Infant Mortality
    • Sudden Unexpected Infant Death (SUID) Program
    • Infant Mortality Toolkit
    • Perinatal Regionalization
  • Minority Health
    • Translated Documents

Resources

Resources 00 - Shared Laboratory Pages

PDF icon Laboratory Manual of Services
PDF icon IDPH Laboratories Newborn Screening Tests
File 1-ETOR Overview
File 1a-ETOR Facility Information
File 2-Registration Email Template
PDF icon 2a- IL ETOR User Guide v1.31
File 3-Registration Approval Template
  • Read more about Resources 00 - Shared Laboratory Pages

Publications

Publications - Metabolic Screening

PDF icon Krabbe Disease & Other Leukodystophies Report
PDF icon Newborn Screening Practitioner's Manual
  • Read more about Publications - Metabolic Screening
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