DisordersScreened

Disorders Screened

If you've received a positive result from PerkinElmer Genetics or have a clinical interest in metabolic disorders, you've come to the right place. Below is a list of all disorders we screen for through our StepOne® newborn screening program. Most disorders are linked to valuable clinical information, including backgrounds, treatments and more. As always, feel free to call us at 412-220-2300 or 866.463.6436 with questions or concerns of any kind.

DISORDERS INCLUDED IN THE STEPONE® NEWBORN SCREENING PANEL

Disorders Detected by Tandem Mass Spectrometry
Disorders Detected by Other Technologies

Disorders Detected by Tandem Mass Spectrometry

Acylcarnitine Profile
- Fatty Acid Oxidation Disorders
- Organic Acid Disorders
  - 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
  - Glutaric Acidemia Type I
  - Isobutyryl-CoA Dehydrogenase Deficiency
  - Isovaleric Acidemia
  - 2-Methylbutryl-CoA Dehydrogenase Deficiency
  - 3-Methylcrotonyl-CoA Carboxylase Deficiency
  - 3-Methylglutaconyl-CoA Hydratase Deficiency
  - Methylmalonic Acidemias
    - Methylmalonyl-CoA Mutase Deficiency
    - Some Adenosylcobalamin Synthesis Defects
    - Maternal Vitamin B12 Deficiency
  - Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
  - Propionic Acidemia
  - Multiple-CoA Carboxylase Deficiency
  - Malonic Aciduria
Amino Acid Profile
- Amino Acid Disorders
  - Argininemia
  - Argininosuccinic Aciduria
  - 5-Oxoprolinuria¹
  - Carbamoylphosphate Synthetase Deficiency¹
  - Citrullinemia
  - Homocystinuria
  - Hypermethioninemia
  - Hyperammonemia, Hyperornithinemia, Homocitrullinemia Syndrome¹
  - Hyperornithinemia with Gyral Atrophy¹
  - Maple Syrup Urine Disease
  - Phenylketonuria
    - Classical/Hyperphenylalaninemia
    - Biopterin Cofactor Deficiencies
  - Tyrosinemia
- Other
  - Hyperalimentation
  - Liver Disease
  - Medium Chain Triglyceride Oil Administration
  - Presence of EDTA Antigoagulants in blood specimen
  - Treatment with Benzoate, Pyvalic Acid, or Valproic Acid
  - Carnitine Uptake Deficiency¹

Disorders Detected by Other Technologies

Biotinidase Deficiency
- Complete Deficiency
- Partial Deficiency
Congenital Adrenal Hyperplasia
- Salt Wasting 21-Hydroxylase Deficiency
- Simple Virilizing 21-Hydroxylase Deficiency
Congenital Hypothyroidism - (not valid after 2 months of age)
Cystic Fibrosis - (not valid after 3 months of age)*
Galactosemia
- Galactokinase Deficiency
- Galactose-1-Phosphate Uridyltransferase Deficiency
- Galactose-4-Empimerase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency
Sickle Cell & other Hemoglobinopathies

Hemoglobin S, S/C, S/Beta-Thalassemia, C, & E Diseases

The analyses conducted by PerkinElmer Genetics produce results that can be used by qualified physicians in the diagnosis of disorders described herein. Evidence of these conditions will be detected in the vast majority of affected individuals; however, due to genetic variability, age of the patient at the time of specimen collection, quality of the specimen, health status of the patient, and other variables, such conditions may not be detected in all affected patients.

¹ There is a lower probability of detection of this condition during the immediate newborn period.
* For information on DNA Carrier Testing for children over three months of age, please call 866.463.6436 or 412.220.2300.

PerkinElmer Genetics