Disorders Screened

Information sheets are designed for health care professionals and provide a brief description of the disorder, along with describing the clinical symptoms, etiology, and treatment for the disorder. Find information below on: Metabolic Disorders, Endocrine Disorders, Blood Disorders, and Cystic Fibrosis.

Metabolic Disorders

• Citrullinemia (CIT) and Argininosuccinic Aciduria (ASA)
• Cobalamin Disorders (Cbl A,B) and Methylmalonic Acidemia (MUT)
• Glutaric Aciduria Type 1 (GAI)
• Galactosemia (GALT)
• Homocystinuria (Hcy)
• Isovaleric Acidemia (IVA)
• Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
• Maple Syrup Urine Disease (MSUD)
• Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
• Phenylketonuria (PKU)
• Propionic Acidemia (PROP)
• Tyrosinemia I (Tyr I)
• Very-long chain AcylCoA Dehydrogenase Deficiency (VLCAD)

Endocrine Disorders

• Congenital Adrenal Hyperplasia (CAH) (to be added, Fall 2010)
• Congenital Hypothyroidism (CH)

• Hemoglobinopathies: Sickle Cell Disease

Hemoglobin Traits (Carriers)

Physician info sheet:

• Hemoglobin Traits

Family info sheets (please share with families):

• Sickle Cell Trait
• Hemoglobin C Trait
• Hemoglobin D Trait
• Homozygous Hemoglobin D
• Hemoglobin D-beta Thalassemia
• Hemoglobin E Trait
• Hemoglobin Variant Carrier
  

Cystic Fibrosis & CF Screening

Physician info sheets:

• Cystic Fibrosis
• CF Screening Algorithm
• CFTR Mutation Panel

Family info sheets (please share with families):

• Cystic Fibrosis Carrier
• High immunoreactive trypsinogen (IRT) and 2 gene changes (mutations)
• High IRT and 1 gene change (mutation)
• High IRT and no gene changes (no mutations)
• What is a sweat test?

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Updated: July 14, 2010