EXPANDED NEWBORN SCREENING PANEL

DISORDERS INCLUDED IN THE EXPANDED NBS PANEL AND THE METABOLITES TESTED

Disorder Group Disorder Metabolite Tested

Endocrine Disorder Congenital Hypothyroidism CH Thyroid Stimulating Hormone (TSH)
Congenital Adrenal Hyperplasia CAH 17-hydroxy-progesterone (17 α-OHP)
Amino Acid Disorder Homocystinuria HCY Methionine
Hypermethioninemia/Methionine MAT Methionine
Adenosine Transferase Deficiency
Maple Syrup Urine Disease MSUD Leucine
Phenylketonuria PKU Phenylalanine
Tyrosinemia Type I TYR Succinylacetone (SA)
Tyrosinemia Type II, III Tyrosine
Fatty Acid Disorder Carnitine Palmioyltransferase I CPT1 Hexadecanoylcarnitine+ CPT ratio
Deficiency
Carnitine Palmioyltransferase II CPT2 Hexadecanoylcarnitine+ CPT ratio
Deficiency
Carnitine Uptake Deficiency CUD Free carnitine
Glutaric Acidemia Type II GA II Butyrylcarnitine+Isovalerylcarnitine
Long Chain Hydroxyacyl-CoA LCHAD 3-Hydroxyhexadecanoylcarnitine
Dehydrogenase Deficiency
Medium Chain-Acyl-CoA MCAD Octanoylcarnitine
Dehydrogenase Deficiency
Very Long Chain-Acyl-CoA VLCAD Tetradecanoylcarnitine
Dehydrogenase Deficiency
Tri-functional Protein Deficiency TFP Hydroxyhexadecanoylcarnitine
Organic Acid 3-Methylcrotnyl CoA Carboxylase 3MCC 3-Hydroxyisovalerylcarnitine
Deficiency
Beta Ketothiolase Deficiency BKT Hydroxyisovalerylcarnitine
Glutaric Acidemia Type I GA I Glutarylcarnitine
Isovaleric Acidemia IVA Isovalerylcarnitine
Methylmalonic Acidemia MMA Propionylcarnitine
Multiple Carboxylase Deficiency MCD 3-
Hydroxyisovalerylcarnitine+Pronionylcarniti
ne
Propionic Acidemia PA Propionylcarnitine
Urea Cycle Defect Citrullinemia CIT Citrulline
Argininosuccinic Aciduria ASA Citrulline
Hemoglobinopathies Alpha Thalassemia HgB Hemoglobin
Beta Thalassemia
Hemoglobin C
Hemoglobin D
Hemoglobin E
Sickle Cell Disease
Others Galactosemia GAL Total Galactose
Glucose-6-Phosphate Dehydrogenase G6PD G6PD enzyme activity
Deficiency Def
Cystic Fibrosis CF Immunoreactive Trypsine (IRT)
Biotinidase Deficiency BTND Biotinidase enzyme activity
*Notes:
1. Number of disorders in the panel may increase as per approval by the Advisory Council for Newborn Screening.
2. The expanded newborn screening fee does not cover Confirmatory for Endocrine Disorders and G6PD Deficiency.
3. The expanded newborn screening fee does not cover treatment and management for Endocrine Disorders, G6PD Deficiency, and
Hemoglobinopathies.
4. The treatment mentioned herein only covers medications, medical foods, catheter for peritoneal, and hemo dialysis needed for
the treatment of acute crisis management i.e. dialysis for MSUD, Propionic Acidemia, Urea Cycle Defects.

See fact sheets for the description of each disorder.

013119 www.newbornscreening.ph