Newborn Screening Tests (a.k.a. PKU test)
By Dr. Brown
Your baby or babies are just barely home and there is one more thing to remember. What was that blood test around 24 hours of life and when will I get the results?
The State of Illinois is in charge of testing all babies for over 30 inborn errors of metabolism. It is known as the Newborn Screening Test. Historically this was called the PKU Test and we still call it that. This is done on a blood sample done anytime after the child is 24 hours old. The hospital will do this and send it straight to the State Lab for you. The report comes to the doctor of record for your child in the hospital. Although done quickly, the normal results usually do not come back to the doctor’s office until about 4-6 weeks of the baby’s age! However, abnormal or borderline results are reported by phone usually by one week of the child’s age. So generally, “no news by two weeks is good news”.
We will however contact you by phone when the results come in, good or bad. The phone number we use is the one you provided as a contact number when you registered in our office or at the hospital. If this has changed, contact us with the new number please.
If your child spent anytime in the Neonatal Intensive Care Unit at the hospital, the test will come back to the Neonatologist and not to our office. If they contact you with results let us know also. Give us a call.
What to expect with “abnormal test results”.
Many abnormal results are simply repeated as a blood test typically drawn from the heal in our office and we get those results in about a week. The vast majority of repeats are “Normal”! The testing is a screening test, and meant to "overcall" rather than "undercall" results. Truly abnormal tests are referred to a specialist in the appropriate field of medicine. When we get an abnormal result we usually repeat the test in a day or two depending on how urgent the abnormal test is.
What is tested in Illinois?
You may be sorry you asked but here are the names of the diseases the test includes.
Here is a link for information on the website for IDPH:
www.idph.state.il.us/HealthWellness/genetics.htm
Newborn Screening Panel
The Illinois newborn screening panel currently includes the following endocrine, hemoglobin and metabolic disorders. While neonatal screening is effective in detecting many of these disorders in asymptomatic infants, some forms and genotypes of the disorders are not reliably detected by neonatal screening or are extremely rare in the Illinois newborn population.
Endocrine Disorders
Congenital adrenal hyperplasia (CAH)
Congenital hypothyroidism
Hemoglobinopathies
Sickle cell disease and other sickling hemoglobinopathies
Apha and βeta thalassemia
Metabolic Disorders
Biotinidase deficiency
Cystic fibrosis (CF)
Galactosemia
Amino acid disorders
Phenylketonuria (PKU) / Hyperphenylalaninemia
Maple syrup urine disease (MSUD)
Tyrosinemia, type 1 and possibly type 2 or type 3 - tyrosine levels may not be sufficiently elevated for detection
Homocystinuria / Hypermethioninemia
5-oxoprolinuria (glutathione synthetase deficiency) - may not be reliably detected in first few days of life
Urea cycle disorders
Citrullinemia (argininosuccinate synthetase deficiency)
Argininosuccinic aciduria (argininosuccinate lyase deficiency)
Argininemia - extremely rare
Organic acid disorders
2-methylbutyryl-CoA dehydrogenase deficiency (2MBD)
3-methylcrotonyl-CoA carboxylase deficiency (3MCC)
3-hydroxy-3-methylglutaric-CoA lyase deficiency (3HMG)
3-methylglutaconic aciduria (3MGA)
Glutaric aciduria, type 1 (GA1)
Propionic acidemia (PA)
Isovaleric acidemia (IVA)
Methylmalonic acidemia (MMA)
Malonic aciduria (MA) - may not be reliably detected in first few days of life
Beta-ketothiolase deficiency (BKT)
Multiple carboxylase deficiency (MCD)
Fatty acid oxidation disorders
Short chain acyl-CoA dehydrogenase deficiency (SCAD)
Medium/Short chain L-3-hydroxyacyl-CoA-dehydrogenase deficiency (M/SCHAD)
Isobutyryl-CoA dehydrogenase deficiency (IBCD)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
Trifunctional protein deficiency (TFPD)
Carnitine palmitoyl transferase deficiency type 2 (CPT2) - neonatal form, extremely rare
Carnitine palmitoyl transferase deficiency type 1 (CPT1A) - may not be reliably detected in first few days of life
Carnitine/acylcarnitine translocase deficiency (CACT) - neonatal form, extremely rare
Carnitine uptake defect (CUD) - may not be reliably detected in first few days of life
Multiple acyl-CoA dehydrogenase deficiency (MADD) / Glutaric aciduria, type 2 (GA2)
Your baby or babies are just barely home and there is one more thing to remember. What was that blood test around 24 hours of life and when will I get the results?
The State of Illinois is in charge of testing all babies for over 30 inborn errors of metabolism. It is known as the Newborn Screening Test. Historically this was called the PKU Test and we still call it that. This is done on a blood sample done anytime after the child is 24 hours old. The hospital will do this and send it straight to the State Lab for you. The report comes to the doctor of record for your child in the hospital. Although done quickly, the normal results usually do not come back to the doctor’s office until about 4-6 weeks of the baby’s age! However, abnormal or borderline results are reported by phone usually by one week of the child’s age. So generally, “no news by two weeks is good news”.
We will however contact you by phone when the results come in, good or bad. The phone number we use is the one you provided as a contact number when you registered in our office or at the hospital. If this has changed, contact us with the new number please.
If your child spent anytime in the Neonatal Intensive Care Unit at the hospital, the test will come back to the Neonatologist and not to our office. If they contact you with results let us know also. Give us a call.
What to expect with “abnormal test results”.
Many abnormal results are simply repeated as a blood test typically drawn from the heal in our office and we get those results in about a week. The vast majority of repeats are “Normal”! The testing is a screening test, and meant to "overcall" rather than "undercall" results. Truly abnormal tests are referred to a specialist in the appropriate field of medicine. When we get an abnormal result we usually repeat the test in a day or two depending on how urgent the abnormal test is.
What is tested in Illinois?
You may be sorry you asked but here are the names of the diseases the test includes.
Here is a link for information on the website for IDPH:
www.idph.state.il.us/HealthWellness/genetics.htm
Newborn Screening Panel
The Illinois newborn screening panel currently includes the following endocrine, hemoglobin and metabolic disorders. While neonatal screening is effective in detecting many of these disorders in asymptomatic infants, some forms and genotypes of the disorders are not reliably detected by neonatal screening or are extremely rare in the Illinois newborn population.
Endocrine Disorders
Congenital adrenal hyperplasia (CAH)
Congenital hypothyroidism
Hemoglobinopathies
Sickle cell disease and other sickling hemoglobinopathies
Apha and βeta thalassemia
Metabolic Disorders
Biotinidase deficiency
Cystic fibrosis (CF)
Galactosemia
Amino acid disorders
Phenylketonuria (PKU) / Hyperphenylalaninemia
Maple syrup urine disease (MSUD)
Tyrosinemia, type 1 and possibly type 2 or type 3 - tyrosine levels may not be sufficiently elevated for detection
Homocystinuria / Hypermethioninemia
5-oxoprolinuria (glutathione synthetase deficiency) - may not be reliably detected in first few days of life
Urea cycle disorders
Citrullinemia (argininosuccinate synthetase deficiency)
Argininosuccinic aciduria (argininosuccinate lyase deficiency)
Argininemia - extremely rare
Organic acid disorders
2-methylbutyryl-CoA dehydrogenase deficiency (2MBD)
3-methylcrotonyl-CoA carboxylase deficiency (3MCC)
3-hydroxy-3-methylglutaric-CoA lyase deficiency (3HMG)
3-methylglutaconic aciduria (3MGA)
Glutaric aciduria, type 1 (GA1)
Propionic acidemia (PA)
Isovaleric acidemia (IVA)
Methylmalonic acidemia (MMA)
Malonic aciduria (MA) - may not be reliably detected in first few days of life
Beta-ketothiolase deficiency (BKT)
Multiple carboxylase deficiency (MCD)
Fatty acid oxidation disorders
Short chain acyl-CoA dehydrogenase deficiency (SCAD)
Medium/Short chain L-3-hydroxyacyl-CoA-dehydrogenase deficiency (M/SCHAD)
Isobutyryl-CoA dehydrogenase deficiency (IBCD)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
Trifunctional protein deficiency (TFPD)
Carnitine palmitoyl transferase deficiency type 2 (CPT2) - neonatal form, extremely rare
Carnitine palmitoyl transferase deficiency type 1 (CPT1A) - may not be reliably detected in first few days of life
Carnitine/acylcarnitine translocase deficiency (CACT) - neonatal form, extremely rare
Carnitine uptake defect (CUD) - may not be reliably detected in first few days of life
Multiple acyl-CoA dehydrogenase deficiency (MADD) / Glutaric aciduria, type 2 (GA2)