One pillar of ACMG’s strategic plan is to develop and publish standards and guidelines that enhance the practice of medical genetics. Medical Genetics Practice Resources are developed by ACMG working groups, committees, and/or the ACMG Board of Directors. These documents touch on a host of important matters relevant to the medical genetics community including, but not limited to, standards of professionalism, technical standards for laboratories, clinical and laboratory practice resources and guidelines for specific disorders or uses of genetics and genomics services, and ACMG policy statements. Explore all the Medical Genetics Practice Resources ACMG has to offer by using the filter below to sort by topic or document type.

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SP Results DataTableResults TAG RECORD AlternateName = EBG-Noninvasive-Prenatal-Screening, Description = Noninvasive prenatal screening for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) (includes Correction), Name = EBG-Noninvasive-Prenatal-Screening, UpdatedOn = 12/7/2023 5:34:02 PM, ArticleCitation = Genet Med 2023;25:100336, CreatedOn = 1/2/2023 9:36:49 AM, DocumentVersionKey = 491a5c77-773c-4326-999a-b798d3ee7cd6
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SP Results DataTableResults TAG RECORD AlternateName = Hemoglobin S Newborn Screening Algorithm, Description = Hemoglobin S Newborn Screening Algorithm, Name = Hemoglobin-S-Algorithm, UpdatedOn = 12/7/2023 5:33:59 PM, ArticleCitation = , CreatedOn = 9/19/2023 2:07:41 PM, DocumentVersionKey = 85bbf132-d6bc-4a27-9926-e8a85e1fc2f8
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SP Results DataTableResults TAG RECORD AlternateName = Statement on noninvasive prenatal screening for fetal aneuploidy, Description = ACMG statement on noninvasive prenatal screening for fetal aneuploidy, Name = Statement-on-noninvasive-prenatal-screening-for-fetal-aneuploidy, UpdatedOn = 12/7/2023 5:33:57 PM, ArticleCitation = Genet Med 2013;15:395-398, CreatedOn = 5/15/2018 9:47:39 AM, DocumentVersionKey = 4a371f08-41b5-48e5-b14f-62f1bf139700
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SP Results DataTableResults TAG RECORD AlternateName = Krabbe Disease Newborn Screening Algorithm, Description = Krabbe Disease Newborn Screening Algorithm, Name = Krabbe Disease Newborn Screening Algorithm, UpdatedOn = 12/7/2023 5:33:47 PM, ArticleCitation = , CreatedOn = 5/28/2022 6:14:22 PM, DocumentVersionKey = 0c66fac1-93f6-4509-ab4d-8f7b1d030a3a
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SP Results DataTableResults TAG RECORD AlternateName = Points to Consider for Informed Consent for Genome/Exome Sequencing, Description = Points to consider for informed consent for genome/exome sequencing, Name = Points-to-Consider-for-Informed-Consent-for-GenomeExome-Sequencing, UpdatedOn = 12/7/2023 5:33:46 PM, ArticleCitation = Genet Med 2013;15:748-749, CreatedOn = 5/15/2018 9:47:17 AM, DocumentVersionKey = 774ae1a9-6afd-4823-b388-7a5e9ca81d17
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SP Results DataTableResults TAG RECORD AlternateName = Glutaric Acidemia Type I (GA I) Newborn Screening Algorithm, Description = Glutaric Acidemia Type I (GA I) Newborn Screening Algorithm, Name = fibroblastsC5-DC-Elevated-Isolated, UpdatedOn = 12/7/2023 5:33:44 PM, ArticleCitation = , CreatedOn = 5/15/2018 9:47:46 AM, DocumentVersionKey = 8be63106-df21-4834-a4a8-d41d94b701ce
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SP Results DataTableResults TAG RECORD AlternateName = Fragile X Letter to the Editor of GIM, Description = Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines (Letter to the Editor), Name = Fragile-X-Letter-to-the-Editor-of-GIM, UpdatedOn = 12/7/2023 5:33:30 PM, ArticleCitation = Genet Med 2008;10:845-847, CreatedOn = 5/15/2018 9:47:00 AM, DocumentVersionKey = 74886f67-396d-4a72-aa25-91cf9c0664ec
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SP Results DataTableResults TAG RECORD AlternateName = Sickle Cell Transition, Description = Sickle Cell Transition, Name = Sickle-Cell-Transition, UpdatedOn = 12/7/2023 5:29:03 PM, ArticleCitation = , CreatedOn = 5/15/2018 9:48:04 AM, DocumentVersionKey = 21f70444-2c58-46a7-83a8-2681612d70e7
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SP Results DataTableResults TAG RECORD AlternateName = Carnitine Palmitoyltransferase II (CPT II) Deficiency Newborn Screening Algorithm, Description = Carnitine Palmitoyltransferase II (CPT II) Deficiency Newborn Screening Algorithm, Name = C16-and-or-C181-Elevated, UpdatedOn = 12/7/2023 5:21:57 PM, ArticleCitation = , CreatedOn = 5/15/2018 9:47:48 AM, DocumentVersionKey = a42ccadf-bb74-4664-9ad4-cc31191b07ff
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SP Results DataTableResults TAG RECORD AlternateName = Olipudase-Alfa-Approved-ASMD, Description = Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG), Name = Olipudase-Alfa-Approved-ASMD, UpdatedOn = 12/7/2023 5:21:50 PM, ArticleCitation = GIM Open 2023;1:100780, CreatedOn = 4/19/2023 11:24:24 AM, DocumentVersionKey = ec08c6b1-7e33-4997-b4ee-246c25005b52
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SP Results DataTableResults TAG RECORD AlternateName = Carrier Screening in Individuals of Ashkenazi Jewish Descent, Description = Carrier screening in individuals of Ashkenazi Jewish descent (retired), Name = Carrier-Screening-in-Individuals-of-Ashkenazi-Jewish-Descent, UpdatedOn = 12/7/2023 5:21:49 PM, ArticleCitation = Genet Med 2008;10:54-56, CreatedOn = 5/15/2018 9:47:25 AM, DocumentVersionKey = 02f8141c-81d7-438e-883c-ad29aa29e80f
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SP Results DataTableResults TAG RECORD AlternateName = LCHAD-ACT-Sheet, Description = , Name = LCHAD-ACT-Sheet, UpdatedOn = 12/7/2023 5:21:46 PM, ArticleCitation = , CreatedOn = 12/8/2022 10:34:27 AM, DocumentVersionKey = 78c8a4d0-cb72-4755-aa0f-e6529215682b
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SP Results DataTableResults TAG RECORD AlternateName = Glutaric Acidemia Type I (GA I) Newborn Screening ACT Sheet, Description = Glutaric Acidemia Type I (GA I) Newborn Screening ACT Sheet, Name = Newborn-Screening-ACT-Sheet-Elevated-C5-DC-AcylcarnitineGlutaryl-CoA-Dehydrogenase-Deficiency, UpdatedOn = 12/7/2023 5:21:30 PM, ArticleCitation = , CreatedOn = 5/15/2018 9:47:46 AM, DocumentVersionKey = d93ef869-3e9a-4404-b872-36ef330720f0
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SP Results DataTableResults TAG RECORD AlternateName = Folic Acid and Neutral Tube Defects, Description = Policy statement on folic acid and neural tube defects, Name = Folic-Acid-and-Neutral-Tube-Defects, UpdatedOn = 12/7/2023 5:21:15 PM, ArticleCitation = Genet Med 2011;13:593-596, CreatedOn = 5/15/2018 9:47:13 AM, DocumentVersionKey = 3f161ce7-8f51-48ec-ae7c-4b85c739bd70
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SP Results DataTableResults TAG RECORD AlternateName = Pompe Disease Newborn Screening Algorithm, Description = Pompe Disease Newborn Screening Algorithm, Name = Pompe-Algorithm, UpdatedOn = 12/7/2023 5:21:04 PM, ArticleCitation = , CreatedOn = 5/15/2018 9:48:02 AM, DocumentVersionKey = bbe3582e-1805-4163-84e6-25297d6bb1de
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SP Results DataTableResults TAG RECORD AlternateName = ACMG clinical laboratory standards for next-generation sequencing (includes supplementary informatio, Description = ACMG clinical laboratory standards for next-generation sequencing (includes supplementary material) (see Rehder et al. 2021 for update), Name = ACMG-clinical-laboratory-standards-for-next-generation-sequencing-includes-supplementary-information, UpdatedOn = 12/7/2023 5:12:37 PM, ArticleCitation = Genet Med 2013;15:733-747, CreatedOn = 5/15/2018 9:47:05 AM, DocumentVersionKey = f81378c8-76f4-4633-ab69-046754df9bc8
SP Results DataTableResults ResultRow = 340
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/ACMG-clinical-laboratory-standards-for-next-generation-sequencing-includes-supplementary-information
content.PublicationDate = 7/25/2013 12:00:00 AM, dtFromDate = 5/15/1974 2:26:40 AM, dtToDate = 5/16/2074 2:26:40 AM, dr[PublicationDate] = 7/25/2013 12:00:00 AM
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SP Results DataTableResults TAG RECORD AlternateName = DMD Pathogenic Variant ACT Sheet, Description = DMD Pathogenic Variant ACT Sheet, Name = DMD Pathogenic Variant ACT Sheet, UpdatedOn = 12/7/2023 5:12:32 PM, ArticleCitation = , CreatedOn = 1/29/2020 12:00:45 PM, DocumentVersionKey = df6f35c6-f2cf-4543-b8ac-249a9cd74f0b
SP Results DataTableResults ResultRow = 341
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/DMD Pathogenic Variant ACT Sheet
content.PublicationDate = 1/29/2020 12:00:00 AM, dtFromDate = 5/15/1974 2:26:40 AM, dtToDate = 5/16/2074 2:26:40 AM, dr[PublicationDate] = 1/29/2020 12:00:00 AM
InRange true
SP Results DataTableResults TAG RECORD AlternateName = Glutaric Acidemia II Newborn Screening Algorithm, Description = Glutaric Acidemia II Newborn Screening Algorithm, Name = Glutaric Acidemia II Newborn Screening Algorithm, UpdatedOn = 12/7/2023 5:12:30 PM, ArticleCitation = , CreatedOn = 5/15/2018 9:47:44 AM, DocumentVersionKey = ec44be5d-5590-4af9-8d22-ca409230a9b2
SP Results DataTableResults ResultRow = 342
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Glutaric Acidemia II Newborn Screening Algorithm
content.PublicationDate = 9/29/2022 12:00:00 AM, dtFromDate = 5/15/1974 2:26:40 AM, dtToDate = 5/16/2074 2:26:40 AM, dr[PublicationDate] = 9/29/2022 12:00:00 AM
InRange true
SP Results DataTableResults TAG RECORD AlternateName = Tyrosine Elevated Newborn Screening Algorithm, Description = Tyrosine Elevated Newborn Screening Algorithm, Name = Tyrosine-Elevated-Algorithm, UpdatedOn = 12/7/2023 5:12:28 PM, ArticleCitation = , CreatedOn = 5/15/2018 9:48:10 AM, DocumentVersionKey = 3b668d91-9ca2-4fa8-98b9-b7b37a7a9191
SP Results DataTableResults ResultRow = 343
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Tyrosine-Elevated-Algorithm
content.PublicationDate = 3/7/2022 12:00:00 AM, dtFromDate = 5/15/1974 2:26:40 AM, dtToDate = 5/16/2074 2:26:40 AM, dr[PublicationDate] = 3/7/2022 12:00:00 AM
InRange true
SP Results DataTableResults TAG RECORD AlternateName = Diagnostic-gene-sequencing-panels-from-design-to-report—a-technical-standard, Description = Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG), Name = Diagnostic-gene-sequencing-panels-from-design-to-reporta-technical-standard, UpdatedOn = 12/7/2023 5:12:28 PM, ArticleCitation = Genet Med 2020;22:453-461, CreatedOn = 6/2/2020 10:44:38 AM, DocumentVersionKey = ff9bdb34-2bd8-4c25-b522-abb443e4e5f7
SP Results DataTableResults ResultRow = 344
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Diagnostic-gene-sequencing-panels-from-design-to-reporta-technical-standard
content.PublicationDate = 11/16/2019 12:00:00 AM, dtFromDate = 5/15/1974 2:26:40 AM, dtToDate = 5/16/2074 2:26:40 AM, dr[PublicationDate] = 11/16/2019 12:00:00 AM
InRange true
SP Results DataTableResults TAG RECORD AlternateName = SearchableFileUpload, Description = , Name = SearchableFileUpload, UpdatedOn = 9/29/2021 2:02:59 PM, ArticleCitation = , CreatedOn = 4/25/2018 11:49:56 AM, DocumentVersionKey = 4d896f25-7d5d-4dff-8ff7-703f5a96d3f2
SP Results DataTableResults ResultRow = 345
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/SearchableFileUpload
DataTableResults.Rows.Count = 345
dtShow.Rows.Count = 344
rdoListDate.SelectedValue = RecentFirst
viewstate configThreeColumns get = 0
configThreeColumns1 = 0
NextStartPageNumber = 11
dTotalPages = 43
iTotalPages = 43
m_ProcessPrevious
NumPageButtonsToShow1 = 43
NumPageButtonsToShow2 = 43
m_PageNumberButtonCount = 10
m_TotalPages = 43
Previous ctr = 1
Previous NumPageButtonsToShow = 43
Previous ctr = 2
Previous NumPageButtonsToShow = 43
Previous ctr = 3
Previous NumPageButtonsToShow = 43
Previous ctr = 4
Previous NumPageButtonsToShow = 43
Previous ctr = 5
Previous NumPageButtonsToShow = 43
Previous ctr = 6
Previous NumPageButtonsToShow = 43
Previous ctr = 7
Previous NumPageButtonsToShow = 43
Previous ctr = 8
Previous NumPageButtonsToShow = 43
Previous ctr = 9
Previous NumPageButtonsToShow = 43
Previous ctr = 10
Previous NumPageButtonsToShow = 43
m_ProcessNext
NextStartPageNumber > iTotalPages else
enable page button ctr = 1
enable page button ctr = 2
enable page button ctr = 3
enable page button ctr = 4
enable page button ctr = 5
enable page button ctr = 6
enable page button ctr = 7
enable page button ctr = 8
enable page button ctr = 9
enable page button ctr = 10
PageNumber = 1, RowsPerPage = 8, m_RowsPerPage = 8
RowStart = 0, RowEnd = 8, m_PageNumberButtonCount = 10
dtShow.Rows.Count = 344
dtShow2.Rows.Count = 8
viewstate configThreeColumns get = 0
RUN OneColumns
Page_load m_configTopicTypeArea = True

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