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Test Algorithms & Practice Guidlines

American College of Medical Genetics Newborn Screening ACT Sheets and Algorithms

Amino Acidemias	Arginemia
	http://www.acmg.net/resources/policies/ACT/Act-Sheet-Arginine_5-2-06.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-Arginine-(4-18-06).pdf

	Citrulline Disorders
	http://www.acmg.net/resources/policies/ACT/Act-Sheet-Citrullinemia_5-2-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-Citrulline-(4-18-06).pdf

	Homocystinuria and methionine disorders
	http://www.acmg.net/resources/policies/ACT/Act-Sheet-Methionine_5-2-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-Methionine-(4-18-06).pdf

	Maple Syrup Urine Disease
	http://www.acmg.net/resources/policies/ACT/Act-Sheet-Leucine_5-2-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-Leucine-(4-18-06).pdf

	Phenylketonuria (PKU)
	http://www.acmg.net/resources/policies/ACT/ACT-sheet_Phenylalanine_5-2-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-Phenylalanine-(4-18-06).pdf

	Tyrosinemias
	http://www.acmg.net/resources/policies/ACT/ACT-sheet_tyrosine_5-2-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-Tyrosine-(4-18-06).pdf

Organic Acidemias	Beta-ketothiolase, biotinidase, holocarboxylase, HMG-CoA lyase deficiencies
	http://www.acmg.net/resources/policies/ACT/ACT-sheet_C5-OH_4-29-06.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C5-OH(4-29-06).pdf

	Glutaric Acidemia
	http://www.acmg.net/resources/policies/ACT/ACT-sheet_C5-DC_5-3-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C5-DC(4-29-06).pdf

	Isovaleric acidemia, acyl-CoA dehydrogenase deficiency
	http://www.acmg.net/resources/policies/ACT/ACT-sheet_C5_5-3-06.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C5(4-19-06).pdf

	Malonic Acidemia
	http://www.acmg.net/resources/policies/ACT/ACT-sheet-C3-DC_5-3-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C3-DC(4-29-06).pdf

	Methylmalonic and Propionic Acidemia
	http://www.acmg.net/resources/policies/ACT/ACT-sheet-C3_5-3-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C3(4-29-06).pdf

Biotinidatse Deficiency	http://www.acmg.net/resources/policies/ACT/ACT_sheet-biotinidase_4-28-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-Biotinidase_(4-17-06).pdf

Congenital Adrenal Hyperplasia	http://www.acmg.net/resources/policies/ACT/Act_sheet_CAH_4-28-06_ljo.pdf
(21-hydroxylase deficiency)	http://www.acmg.net/resources/policies/ACT/Visio-NBS_Elevated-17OHP_4-18-06.pdf

Congenital Hearing Loss	http://www.acmg.net/resources/policies/ACT/Act_Sheet-Hearing-Loss_4-17-06.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-hearing-loss(4-17-06).pdf
Congenital Hypothyroidism	http://www.acmg.net/resources/policies/ACT/NB-Screen-Act-Sheet-Primary-TSH-4-28-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-TSH_4-19-06.pdf

Cystic Fibrosis	http://www.acmg.net/resources/policies/ACT/Act_Sheet-CF_4-17-06.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-IRT(4-17-06).pdf

Fatty Acid Oxidation Disorders	Carnitine uptake deficiency
	http://www.acmg.net/resources/policies/ACT/ACT_sheet_C0_5-3-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C0(5-8-06).pdf

	CPT1 deficiency
	http://www.acmg.net/resources/policies/ACT/ACT_sheet_C0_C16-C18_5-3-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C0_C16-C18_(4-29-06).pdf

	CPT2, CACT
	http://www.acmg.net/resources/policies/ACT/ACT_sheet_C16_and-or_C18-1_5-3-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C16_and-or_C18(4-19-06).pdf

	Glutaric acidemia, ethylmalonic encephalopathy
	http://www.acmg.net/resources/policies/ACT/ACT_sheet_C4;C5_5-3.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C4_C5+_other_AC_(4-19-06).pdf

	LCHAD, TFP
	http://www.acmg.net/resources/policies/ACT/ACT_sheet_C16-OH_5_3_06.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C16-OH+_C18-1-OH_(4-29-06).pdf

	MCAD
	http://www.acmg.net/resources/policies/ACT/ACT_sheet_C8_C6andC10_05-03-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C8_vsd;_C6-C10_(4-29-06).pdf

	M/SCHAD
	http://www.acmg.net/resources/policies/ACT/ACT_sheet_C4-OH_5-23-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C4-OH_(4-19-06).pdf

	SCAD Ethylmalonic encephalopathy, Isobutyryl-CoA dehydrogenase deficiency
	http://www.acmg.net/resources/policies/ACT/ACT_sheet_C4_5-3-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C4_(4-19-06).pdf

	VLCAD
	http://www.acmg.net/resources/policies/ACT/ACT_sheet_C14-C14_1_5-2-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-C14-1_(4-19-06).pdf

Galactosemias	Classic Form
	http://www.acmg.net/resources/policies/ACT/Act-Sheet-Galactose+GALT_4-28-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-GALT_4-17-06.pdf

	Galactokinase and Galctose epimerase Deficiencies
	http://www.acmg.net/resources/policies/ACT/Act-Sheet-Galactose_4-27-06_ljo.pdf
	http://www.acmg.net/resources/policies/ACT/Visio-Hypergalactosemia_4-17-06.pdf

Hemoglobin Disorders	Sickle Cell Anemia
	http://www.acmg.net/resources/policies/ACT/ACT-sheet_HBSC_FSC_4-18-06.pdf

	Hemoglobin SC disease
	http://www.acmg.net/resources/policies/ACT/ACT_sheet_HBSS_FS_4-28-06-ljo.pdf

	Hemoglobin S/Beta Thalassemia
	http://www.acmg.net/resources/policies/ACT/ACT_sheet_Hb_Sbeta_plus_thal_FSA_4-28-06_ljo.pdf

	Sickle Cell Carrier (trait)
	http://www.acmg.net/resources/policies/ACT/ACT_sheet_Hb_carrier_trait_FAS_4_28_06_ljo.pdf