PerkinElmer Genetics

Disorders Detected by Tandem Mass Spectrometry

• Acylcarnitine Profile
• Fatty Acid Oxidation Disorders
• Carnitine/Acylcarnitine Translocase Deficiency
• Carnitine Palmitoyl Transferase Deficiency Type I¹
• 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency
• 2,4-Dienoyl-CoA Reductase Deficiency¹
• Medium Chain Acyl-CoA Dehydrogenase Deficiency
• Multiple Acyl-CoA Dehydrogenase Deficiency
• Neonatal Carnitine Palmitoyl Transferase Deficiency Type II
• Short Chain Acyl-CoA Dehydrogenase Deficiency
• Short Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency
• Trifunctional Protein Deficiency
• Very Long Chain Acyl-CoA Dehydrogenase Deficiency
• 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
• Transient Neonatal Tyrosinemia
• Tyrosinemia Type I
• Tyrosinemia Type II
• Tyrosimenia Type III
• 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.