The StepOne® Comprehensive Biochemical Profile is one of the most comprehensive biochemical newborn screening tests in the world, with the ability detect more than 50 disorders in newborns from just a few drops of blood. These disorders include Fatty Acid Oxidation Disorders, Organic Acid Disorders, Amino Acid Disorders and other metabolic inherited disorders. Some of these are screened using MS/MS (Tandem Mass Spectrometry).

Testing Options

Acylcarnitine Profile

  • 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
  • Glutaric Acidemia Type I
  • Isobutyryl-CoA Dehydrogenase Deficiency
  • Isovaleric Acidemia
  • 2-Methylbutyryl-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

  • Argininemia
  • Argininosuccinic Aciduria
  • 5-Oxoprolinuria
  • Carbamoylphosphate Synthetase Deficiency
  • Citrullinemia
  • Homocystinuria
  • Hypermethioninemia
  • Hyperammonemia, Hyperornithinemia, Homocitrullinuria Syndrome
  • Hyperornithinemia with Gyral Atrophy
  • Maple Syrup Urine Disease
  • Phenylketonuria
    • Classical/Hyperphenylalaninemia
    • Biopterin Cofactor Deficiencies
  • Tyrosinemia
    • Transient Neonatal Tyrosinemia
    • Tyrosinemia Type I
    • Tyrosinemia Type II
    • Tyrosinemia Type III
  •  
  • Hyperalimentation
  • Liver Disease
  • Medium Chain Triglyceride Oil Administration
  • Presence of EDTA Anticoagulants in blood specimen
  • Treatment with Benzoate, Pyvalic Acid, or Valproic Acid
  • Carnitine Uptake Deficiency
  •  

Other Inherited Metabolic Disorders

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

FAQs

The StepOne® Comprehensive Biochemical Profile is a newborn screening test that can detect more than 50 disorders in newborns from just a few drops of blood.

The StepOne® Comprehensive Biochemical Profile yields the most beneficial results within the first 7 days of life. However, metabolic screening, such as the StepOne® Comprehensive Biochemical Profile, can be performed on any child at any age.

All biochemical assays, including the StepOne® Comprehensive Biochemical Profile, require a dried blood sample.

Detailed directions on sample collection are included in each individual sample collection kit. Additionally, a copy of those instructions can be found here.

Want to order a test?

OPTION 1: Call: 1800 419 1400
OPTION 2: Email: marketing.dxindia@perkinelmer.com