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Genomics Program Home > Heelstick Heelstick

What is a heelstick?

Before every baby goes home from the nursery, he or she has a small amount of blood taken from his or her heel. This is called a heelstick. The blood from the heelstick is used to test for a specific group of conditions. If anything concerning is found, the Newborn Screening Laboratory contacts the baby’s doctor.

What conditions are included in Indiana's heelstick?

Below is a complete list of conditions included in Indiana's heelstick.  For more information on a specific condition, click on the condition's name.

For a list of resources for families of children with newborn screening conditions, please click here.

Endocrine Disorders

    1.     Congenital adrenal hyperplasia (also called CAH)
    2.     Hypothyroidism

Hemoglobinopathies

    3.    Sickle cell anemia (includes testing for S/C anemia & beta-thalassemia)

Metabolic conditions

Amino Acid (AA) Disorders (includes urea cycle disorders) (en español)

    4.    Arginase deficiency (also called argininemia)
    5.    Argininosuccinic aciduria
    6.    Biopterin cofactor defects
    7.    Citrullinemia (also called CIT type I)
    8.    Citrin deficiency (also called CIT type II)
    9.    Homocystinuria (also called HCY) (en español)
    10.  Hypermethioninenemia
    11.  Hyperphenylalaninemia
    12.  Maple syrup urine disease (also called MSUD) (en español)
    13.  Phenylketonuria (also called PKU) (en español)
    14.  Tyrosinemia type I (en español)
    15.  Tyrosinemia type II
    16.  Tyrosinemia type III

Fatty Acid Oxidation (FAO) Disorders (en español)

    17.  2,4-dienoyl-CoA reductase deficiency
    18.  Carnitine-acylcarnitine translocase deficiency (also called CACT)
    19.  Carnitine palmitoyltransferase deficiency I (also called CPT IA)
    20.  Carnitine palmitoyltransferase deficiency II (also called CPT II)
    21.  Carnitine uptake defect (also called CUD) 
    22.  Glutaric acidemia type II (also called GA type II, electron transfer flavoprotein deficiency, ETF deficiency, multiple acyl-CoA dehydrogenase deficiency, or multiple FAD dehydrogenase deficiency)
    23.  Long chain hydroxyacyl-CoA dehydrogenase deficiency (also called LCHAD)
    24.  Medium chain acyl-CoA dehydrogenase deficiency (also called MCAD) (en español)
    25.  Short chain acyl-CoA dehydrogenase deficiency (SCAD)
    26.  Short chain hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
    27.  Trifunctional enzyme deficiency
    28.  Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)

Organic Acidemias (OA) (en español)

    29.  2-Methylbutyrylglycinuria (also called 2-MBG) 
    30.  3-Hydroxy-3-methyl glutaric aciduria (also called HMG) 
    31.  3-Methylcrotonyl-CoA carboxylase deficiency (also called 3-MCC deficiency) (en español)
    32.  3-Methylglutaconic acidemia (also called 3-MGA)
    33.  Beta-ketothiolase deficiency  
    34.  Glutaric acidemia, type I (also called GA type I)
    35.  Isobutrylglycinuria (also called IBG) 
    36.  Isovaleric acidemia (also called IVA) 
    37.  Malonic aciduria (also called MAL)
    38.  Methylmalonic acidemia (also called MUT or methylmalonyl-CoA mutase)
    39.  Methylmalonic acidemia with cobalamin disorders (CblA & CblB)
    40.  Methylmalonic academia with homocystinuria (CblC & CblD)
    41.  Multiple-CoA carboxylase deficiency
    42.  Propionic acidemia

Other

    43.  Biotinidase deficiency (en español)
    44.  Cystic fibrosis
    45.  Galactosemia (also called classic galactosemia or G/G) (en español)
Includes testing for galactosemia D/G variant & other galactosemia variants (en español)

Click here to read the HIPAA Notice of Privacy Practice for the ISDH Newborn Screening Program.

Click here to read the HIPAA Notice of Privacy Practice in Spanish.

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