Carolina del Sur | Newborn Screening

Panel estatal de exámenes de recién nacidos

2-Methyl 3-OH Butyric Aciduria
2-methylbutyrylglycinuria
3-methylcrotonyl coA carboxylase deficiency
3-methylglutaconic aciduria
Arginase deficiency
Argininosuccinic aciduria
Benign hyperphenylalaninemia
Beta ketothiolase deficiency
Biotinidase deficiency
Carnitine palmitoyl transferase type I deficiency
Carnitine palmitoyl transferase type II deficiency
Carnitine uptake/transport deficiency
Carnitine/acylcarnitine translocase deficiency
Citrullinemia I
Citrullinemia II
Congenital adrenal hyperplasia
Critical congenital heart defects
Cystic fibrosis
Defect of biopterin cofactor biosynthesis
Defect of biopterin cofactor regeneration
Dienoyl Co-A Reductase Deficiency
Galactokinase deficiency
Galactose epimerase deficiency
Galactosemia
Glutaric Aciduria Type I
Glutaric Aciduria Type II
Hearing loss
Hemoglobinopathies
HMG-CoA Lyase Deficiency
Holocarboxylase Synthase Deficiency (Multiple Carboxylase Deficiency- MCD)
Homocystinuria
Hypermethioninemia
Isobutyryl glycinuria
Isovaleric acidemia
Krabbe disease
Long Chain 3-OH Acyl Co-A Dehydrogenase Deficiency
Malonic acidemia
Maple syrup urine disease
Medium Chain Acyl Co-A Dehydrogenase Deficiency
Medium Chain Ketoacyl Co-A Thiolase Deficiency
Medium/Short Chain 3-OH Acyl CoA Dehydrogenase Deficiency
Methylmalonic Acidemia (Cobalamin A, B)
Methylmalonic acidemia (mutase deficiency)
Methylmalonic acidemia with homocystinuria (Cbl C,D)
Mucopolysaccharidosis type I
Phenylketonuria
Pompe disease
Primary congenital hypothyroidism
Propionic acidemia
S, β Thalassemia
Severe combined immunodeficiency
Short-chain acyl Co-A dehydrogenase deficiency
Sickle C disease
Sickle cell anemia
Spinal muscular atrophy
Trifunctional protein deficiency
Tyrosinemia I
Tyrosinemia II
Tyrosinemia III
Very Long Chain Acyl Co-A Dehydrogenase Deficiency
X-linked adrenoleukodystrophy

Contactos y asistencia

Programa estatal de examen de recién nacidos

Programa de examen de recién nacidos del estado de Carolina del Sur

Teléfono: 803-898-3192

Teléfono (alt.): 803-898-0619

FAX: 803-898-0337

Correo electrónico: spellsty@dhec.sc.gov

Sitio web del Programa de examen de recién nacidos del estado de Carolina del Sur (en inglés)

Recursos adicionales

Para obtener una lista de recursos, asistencia general e información acerca del examen de recién nacidos, visite la página Recursos.

Fecha de la última revisión:

marzo de 2025