| Amino Acidemias |
Arginemia |
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http://www.acmg.net/resources/policies/ACT/Act-Sheet-Arginine_5-2-06.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-Arginine-(4-18-06).pdf |
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Citrulline Disorders |
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http://www.acmg.net/resources/policies/ACT/Act-Sheet-Citrullinemia_5-2-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-Citrulline-(4-18-06).pdf |
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Homocystinuria and methionine disorders |
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http://www.acmg.net/resources/policies/ACT/Act-Sheet-Methionine_5-2-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-Methionine-(4-18-06).pdf |
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Maple Syrup Urine Disease |
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http://www.acmg.net/resources/policies/ACT/Act-Sheet-Leucine_5-2-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-Leucine-(4-18-06).pdf |
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Phenylketonuria (PKU) |
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http://www.acmg.net/resources/policies/ACT/ACT-sheet_Phenylalanine_5-2-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-Phenylalanine-(4-18-06).pdf |
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Tyrosinemias |
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http://www.acmg.net/resources/policies/ACT/ACT-sheet_tyrosine_5-2-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-Tyrosine-(4-18-06).pdf |
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| Organic Acidemias |
Beta-ketothiolase, biotinidase, holocarboxylase, HMG-CoA lyase deficiencies |
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http://www.acmg.net/resources/policies/ACT/ACT-sheet_C5-OH_4-29-06.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C5-OH(4-29-06).pdf |
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Glutaric Acidemia |
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http://www.acmg.net/resources/policies/ACT/ACT-sheet_C5-DC_5-3-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C5-DC(4-29-06).pdf |
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Isovaleric acidemia, acyl-CoA dehydrogenase deficiency |
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http://www.acmg.net/resources/policies/ACT/ACT-sheet_C5_5-3-06.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C5(4-19-06).pdf |
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Malonic Acidemia |
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http://www.acmg.net/resources/policies/ACT/ACT-sheet-C3-DC_5-3-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C3-DC(4-29-06).pdf |
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Methylmalonic and Propionic Acidemia |
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http://www.acmg.net/resources/policies/ACT/ACT-sheet-C3_5-3-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C3(4-29-06).pdf |
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| Biotinidatse Deficiency |
http://www.acmg.net/resources/policies/ACT/ACT_sheet-biotinidase_4-28-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-Biotinidase_(4-17-06).pdf |
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| 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 |
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| Congenital Hearing Loss |
http://www.acmg.net/resources/policies/ACT/Act_Sheet-Hearing-Loss_4-17-06.pdf |
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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 |
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http://www.acmg.net/resources/policies/ACT/Visio-TSH_4-19-06.pdf |
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| Cystic Fibrosis |
http://www.acmg.net/resources/policies/ACT/Act_Sheet-CF_4-17-06.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-IRT(4-17-06).pdf |
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| Fatty Acid Oxidation Disorders |
Carnitine uptake deficiency |
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http://www.acmg.net/resources/policies/ACT/ACT_sheet_C0_5-3-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C0(5-8-06).pdf |
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CPT1 deficiency |
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http://www.acmg.net/resources/policies/ACT/ACT_sheet_C0_C16-C18_5-3-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C0_C16-C18_(4-29-06).pdf |
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CPT2, CACT |
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http://www.acmg.net/resources/policies/ACT/ACT_sheet_C16_and-or_C18-1_5-3-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C16_and-or_C18(4-19-06).pdf |
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Glutaric acidemia, ethylmalonic encephalopathy |
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http://www.acmg.net/resources/policies/ACT/ACT_sheet_C4;C5_5-3.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C4_C5+_other_AC_(4-19-06).pdf |
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LCHAD, TFP |
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http://www.acmg.net/resources/policies/ACT/ACT_sheet_C16-OH_5_3_06.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C16-OH+_C18-1-OH_(4-29-06).pdf |
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MCAD |
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http://www.acmg.net/resources/policies/ACT/ACT_sheet_C8_C6andC10_05-03-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C8_vsd;_C6-C10_(4-29-06).pdf |
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M/SCHAD |
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http://www.acmg.net/resources/policies/ACT/ACT_sheet_C4-OH_5-23-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C4-OH_(4-19-06).pdf |
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SCAD Ethylmalonic encephalopathy, Isobutyryl-CoA dehydrogenase deficiency |
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http://www.acmg.net/resources/policies/ACT/ACT_sheet_C4_5-3-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C4_(4-19-06).pdf |
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VLCAD |
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http://www.acmg.net/resources/policies/ACT/ACT_sheet_C14-C14_1_5-2-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-C14-1_(4-19-06).pdf |
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| Galactosemias |
Classic Form |
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http://www.acmg.net/resources/policies/ACT/Act-Sheet-Galactose+GALT_4-28-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-GALT_4-17-06.pdf |
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Galactokinase and Galctose epimerase Deficiencies |
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http://www.acmg.net/resources/policies/ACT/Act-Sheet-Galactose_4-27-06_ljo.pdf |
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http://www.acmg.net/resources/policies/ACT/Visio-Hypergalactosemia_4-17-06.pdf |
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| Hemoglobin Disorders |
Sickle Cell Anemia |
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http://www.acmg.net/resources/policies/ACT/ACT-sheet_HBSC_FSC_4-18-06.pdf |
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Hemoglobin SC disease |
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http://www.acmg.net/resources/policies/ACT/ACT_sheet_HBSS_FS_4-28-06-ljo.pdf |
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Hemoglobin S/Beta Thalassemia |
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http://www.acmg.net/resources/policies/ACT/ACT_sheet_Hb_Sbeta_plus_thal_FSA_4-28-06_ljo.pdf |
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Sickle Cell Carrier (trait) |
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http://www.acmg.net/resources/policies/ACT/ACT_sheet_Hb_carrier_trait_FAS_4_28_06_ljo.pdf |