Expanded Newborn Screening Test

 

EXPANDED NEWBORN SCREENING PANEL
DISORDER GROUP	NAME OF THE DISORDER	ABB	METABOLITE TESTED
Endocrine Disorder	Congenital Hypothyroidism	CH	Thyroid Stimulating Hormone
	Congenital Adrenal Hyperplasia	CAH	17–hydroxy–progesterone (17–a–OHP)
Amino Acid Disorder	Homocystinuria	HCY	Methionine
	Hypermethioninemia/Methionine Adenosyl Transferase Deficiency	MAT	Methionine
	Maple Syrup Urine Disease	MSUD	Leucine
	Phenylketonuria	PKU	Phenylalanine
	Tyrosinemia Type I, II		Tyrosine
Fatty Acid Disorder	Carnitine Palmitoyltransferase I Deficiency	CPT 1	Carnitine Palmitoyltrasferase I
	Carnitine Palmitoyltransferase II Deficiency	CPT 2	Hexadecanoylcarnitine
	Glutaric Acidemia Type II	GA II	Butyrylcarnitine
	Long–Chain 3–Hydroxyacyl –CoA Dehydrogenase Deficiency	LCHAD	Hydroxyhexadecanoylcarnitine (AC16OH)
	Medium Chain 3–Hydroxyacyl – CoA Dehydrogenase Deficiency	MCAD	Octanoylcarnitine
	Short Chain 3–Hydroxyacyl – CoA Dehydrogenase Deficiency	SCAD	Butyrylcarnitine
	Very Long Chain 3–Hydroxyacyl – CoA Dehydrogenase Deficiency	VLCAD	Tetradecanoylcarnitine
Organic Acid	3–Methylcrotonyl CoA Carboxylase Deficiency	3MCC	Hydroxyisovalerycarnitine (AC5 – OH)
	Glutaric Acidemia Type I	GA I	Glutarylcarnitine
	Isovaleric Acidemia	IVA	Isovalerycarnitine
	Methylmalonic Acidemia	MMA	Propionylcarnitine
	Multiple Carboxylase Deficiency	MCD	Hydroxyisovalerylcarnitine
	Propionic Acidemia	PA	Propionylcarnitine
Urea Cycle Defect	Citrullinemia	CIT	Citrulline
Cystic Fibrosis	Cystic Fibrosis	CF	Immunoreactive Trypsine (IRT)
Hemoglobino pathies	Alpha Thalassemia	Hgb	Hemoglobin
	Beta Thalassemia
	Hemoglobin C
	Hemoglobin D
	Hemoglobin E
Biotinidase Deficiency	Biotinidase Deficiency	BTND	Biotinidase
Others	Galactosemia	GAL	Total Galactose
	Glucose–6–Phosphate Dehydrogenase Deficiency	G6PD Def	G6PD enzyme activity

 

SAMPLE COLLECTION FOR NEWBORN SCREENING TEST