What we test for

Amino acid disorders:

These disorders are characterized by the body's inability to correctly process amino acids or the inability to process the ammonia that is released during the break down of amino acids. The accumulation of amino acids, ammonia or other by-products may cause severe complications including mental retardation, coma, seizures, and possibly causing death.

• Argininosuccinic acidemia (ASA)

• Biotinidase deficiency: deficiency of an enzyme (biotinidase) that facilitates the body's recycling of biotin. The result is biotin deficiency, which if undetected and untreated, may result in severe neurological damage or death.

• Citrullinemia (CIT)

• Congenital adrenal hyperplasia: a severe disorder of adrenal steroid metabolism which may result in death of an infant during the neonatal period if undetected and untreated.

• Congenital hypothyroidism: a disorder of thyroid function during the neonatal period causing impaired mental functioning if undetected and untreated.

• Cystic fibrosis: a life-shortening disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), a transmembrane protein involved in ion transport. Affected individuals suffer from chronic, progressive pulmonary disease and nutritional deficits. Early detection and enrollment in a comprehensive care system provides improved outcomes and avoids the significant nutritional and growth deficits that are evident when diagnosed later.

• Galactosemia: a deficiency of enzymes that help the body convert the simple sugar galactose into glucose resulting in a buildup of galactose and galactose-1-PO4 in the blood. If undetected and untreated, accumulated galactose-1-PO4 may cause significant tissue and organ damage often leading to sepsis and death.

• Hemoglobinopathies: including sickle cell anemia (Hb SS), sickle / beta thalassemia (Hb S/β-thalassemia), sickle / C disease (HbS/C), and other hereditary blood disorders caused by genetic alteration of hemoglobin which results in characteristic clinical and laboratory abnormalities and which lead to developmental impairment or physical disabilities. 

• Homocystinuria (HCY)

• Maple syrup urine disease (MSUD)

• Phenylketonuria (PKU)

• Tyrosinemia type I (TYR I)

Fatty acid oxidation disorders:

These disorders are characterized by the body's inability to efficiently use stored fat to make energy. During times of extra energy need such as prolonged fasting or acute illness, affected infants can suffer dangerously low blood sugar and metabolic crises resulting in serious damage affecting the brain, liver, heart, eyes, muscle, and possibly causing death.

• Carnitine uptake defect (CUD)

• Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHADD)

• Medium chain acyl-CoA dehydrogenase deficiency (MCADD)

• Trifunctional protein deficiency (TFP)

• Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)

Organic acid disorders:

These disorders are characterized by errors in processing amino acids resulting in the accumulation of non-amino organic acids and toxic intermediates. This may lead to metabolic crisis with increases in acid and ammonia in the blood, and dangerously low blood sugar resulting in severe nerve and physical damage and possibly causing death.

• 3-OH 3-CH3 glutaric aciduria (HMG)

• Beta-Ketothiolase deficiency (BKT)

• Glutaric acidemia type I (GA 1)

• Isovaleric acidemia (IVA)

• Methylmalonic acidemia (Cbl A, B)

• Methylmalonic acidemia (mutase deficiency) (MUT)

• Multiple carboxylase deficiency (MCD)

• Propionic acidemia (PROP)

Background, Rule Making Activities, and Meeting Materials

Prior to October 2003, Chapter 246-650 WAC required screening for:

• Phenylketonuria (PKU)

• Congenital adrenal hyperplasia.

• Congenital hypothyroidism

• Hemoglobinopathies such as sickle cell disease

Addition of five new disorders

On October 15, 2003 the Board adopted revisions to Chapter 246-650 WAC that added the following five disorders and addressed privacy requirements:

• Biotinidase deficiency

• Galactosemia

• Homocystinuria

• Maple syrup urine disease.

• Medium chain acyl co-A dehydrogenase deficiency

Screening for the above referenced disorders began January 1, 2004. Implementation began June 2004.

• CR-101 filed April 4, 2001 as WSR 02-03-136.
• NSAC presented criteria and recommendations to the Board on May 8, 2002.
• Privacy issues addressed by the Board's Genetics Task Force.
• CR-102 filed August 20, 2003 as WSR 03-17-092.
• Proposed rule adopted with minor amendments October 15, 2003.
• CR-103 filed November 24, 2003 as WSR 03-24-026.

Addition of 15 new disorders

The Board adopted changes to Chapter 246-650 WAC at a public hearing on May 14, 2008. The Board approved the addition of 15 disorders to the list of conditions for which all newborns must be tested bringing the total number of disorders to 25. The 15 disorders were reviewed and recommended for screening by the Newborn Screening Advisory Committee (NSAC).

All of the 15 new disorders are metabolic. Early detection and treatment can prevent most or all of the consequences described below. 

• 3-OH 3-CH3 glutaric aciduria (HMG)

• Argininosuccinic acidemia (ASA)

• Beta-Ketothiolase deficiency (BKT)

• Carnitine uptake defect (CUD)

• Citrullinemia (CIT)

• Glutaric acidemia type I (GA 1)

• Isovaleric acidemia (IVA)

• Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHADD)

• Methylmalonic acidemia (Cbl A, B)

• Methylmalonic acidemia (mutase deficiency) (MUT)

• Multiple carboxylase deficiency (MCD)

• Propionic acidemia (PROP)

• Trifunctional protein deficiency (TFP)

• Tyrosinemia type I (TYR I)

• Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)

The Department of Health began screening infants for the new disorders in September 2008.

• CR-103 filed on June 16, 2008 as WSR 08-13-073

Board Meeting Materials Related to May 14, 2008 Hearing