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 = Velmanase-Alfa-Approved, Description = Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG), Name = Velmanase-Alfa-Approved, UpdatedOn = 5/2/2024 3:57:45 PM, ArticleCitation = GIM Open 2024;2:101832, CreatedOn = 4/10/2024 12:19:32 PM, DocumentVersionKey = 07350761-374e-4978-badb-a17b1ae0da72
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SP Results DataTableResults TAG RECORD AlternateName = Addendum-reevaluation-reanalysis, Description = Addendum: Points to consider in the reevaluation and reanalysis of genomic test results: A statement of the American College of Medical Genetics and Genomics (ACMG), Name = Addendum-reevaluation-reanalysis, UpdatedOn = 5/2/2024 3:55:20 PM, ArticleCitation = Genet Med 2024;26:101100, CreatedOn = 5/2/2024 12:58:16 PM, DocumentVersionKey = 8f23fac7-bb97-45e8-829d-f819c5341fac
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SP Results DataTableResults TAG RECORD AlternateName = Emergency Preparedness for Newborn Screening and Genetic Services, Description = Emergency preparedness for newborn screening and genetic services, Name = Emergency-Preparedness-for-Newborn-Screening-and-Genetic-Services, UpdatedOn = 12/7/2023 5:13:09 PM, ArticleCitation = Genet Med 2009;11:455-464, CreatedOn = 5/15/2018 9:47:12 AM, DocumentVersionKey = b9953988-7f72-4f26-aa30-909ff4021bec
SP Results DataTableResults ResultRow = 340
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Emergency-Preparedness-for-Newborn-Screening-and-Genetic-Services
content.PublicationDate = 5/13/2009 12:00:00 AM, dtFromDate = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, dr[PublicationDate] = 5/13/2009 12:00:00 AM
InRange true
SP Results DataTableResults TAG RECORD AlternateName = the-use-of-fetal-exome-sequencing-in-prenatal-diagnosis, Description = The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG), Name = the-use-of-fetal-exome-sequencing-in-prenatal-diagnosis, UpdatedOn = 12/7/2023 5:13:08 PM, ArticleCitation = Genet Med 2020;22:675-680, CreatedOn = 1/8/2020 1:22:07 PM, DocumentVersionKey = b3b24eb9-a2ee-4e5f-a153-affd646b0b39
SP Results DataTableResults ResultRow = 341
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/the-use-of-fetal-exome-sequencing-in-prenatal-diagnosis
content.PublicationDate = 1/8/2020 12:00:00 AM, dtFromDate = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, dr[PublicationDate] = 1/8/2020 12:00:00 AM
InRange true
SP Results DataTableResults TAG RECORD AlternateName = Care of Adults with Neurofibromatosis Type 1: a clinical practice resource of the American College o, Description = Care of adults with neurofibromatosis Type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG), Name = Adult-Neurofibromatosis-Type-1, UpdatedOn = 12/7/2023 5:13:04 PM, ArticleCitation = Genet Med 2018;20:671-682, CreatedOn = 7/24/2018 2:51:43 PM, DocumentVersionKey = 3d166be1-ddfc-4aed-95ce-fcc2b3face09
SP Results DataTableResults ResultRow = 342
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Adult-Neurofibromatosis-Type-1
content.PublicationDate = 4/26/2018 12:00:00 AM, dtFromDate = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, dr[PublicationDate] = 4/26/2018 12:00:00 AM
InRange true
SP Results DataTableResults TAG RECORD AlternateName = ACMG Statement Insuring Patient Access and Affordability for Treatments, Description = Insuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the American College of Medical Genetics and Genomics, Name = ACMG-Policy-Statement-Insuring-Patient-Access-And-Affordability, UpdatedOn = 12/7/2023 5:12:57 PM, ArticleCitation = Genet Med 2018;20:1303-1304, CreatedOn = 8/22/2018 10:48:23 AM, DocumentVersionKey = ba1fdcac-206e-4465-9896-fec685481ecc
SP Results DataTableResults ResultRow = 343
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/ACMG-Policy-Statement-Insuring-Patient-Access-And-Affordability
content.PublicationDate = 4/29/2018 12:00:00 AM, dtFromDate = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, dr[PublicationDate] = 4/29/2018 12:00:00 AM
InRange true
SP Results DataTableResults TAG RECORD AlternateName = Glutaric Acidemia II Newborn Screening ACT Sheet, Description = Glutaric Acidemia II Newborn Screening ACT Sheet, Name = Glutaric Acidemia II Newborn Screening ACT Sheet, UpdatedOn = 12/7/2023 5:12:55 PM, ArticleCitation = , CreatedOn = 5/15/2018 10:33:05 AM, DocumentVersionKey = e80c13c2-dda3-419a-9bcd-96955f8b0203
SP Results DataTableResults ResultRow = 344
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Glutaric Acidemia II Newborn Screening ACT Sheet
content.PublicationDate = 9/29/2022 12:00:00 AM, dtFromDate = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, dr[PublicationDate] = 9/29/2022 12:00:00 AM
InRange true
SP Results DataTableResults TAG RECORD AlternateName = Galactosemia (GALT Deficiency), Description = Classic Galactosemia Newborn Screening Algorithm, Name = Galactosemia-GALT-Deficiency, UpdatedOn = 12/7/2023 5:12:53 PM, ArticleCitation = , CreatedOn = 5/15/2018 9:47:55 AM, DocumentVersionKey = 2994c3ad-caed-4003-a217-9d5aba5db186
SP Results DataTableResults ResultRow = 345
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Galactosemia-GALT-Deficiency
content.PublicationDate = 1/27/2022 12:00:00 AM, dtFromDate = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, dr[PublicationDate] = 1/27/2022 12:00:00 AM
InRange true
SP Results DataTableResults TAG RECORD AlternateName = chromosomal-microarray-analysis, Description = Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) (update of Cooley et al. 2013, South et al. 2013), Name = chromosomal-microarray-analysis, UpdatedOn = 12/7/2023 5:12:49 PM, ArticleCitation = Genet Med 2021;23:1818-1829, CreatedOn = 6/15/2021 1:43:33 PM, DocumentVersionKey = 40c4927d-2819-4e84-b9ef-0a274f694ab2
SP Results DataTableResults ResultRow = 346
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/chromosomal-microarray-analysis
content.PublicationDate = 6/15/2021 12:00:00 AM, dtFromDate = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, dr[PublicationDate] = 6/15/2021 12:00:00 AM
InRange true
SP Results DataTableResults TAG RECORD AlternateName = Laboratory diagnosis of disorders, Description = Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG), Name = Laboratory-diagnosis-of-disorders, UpdatedOn = 12/7/2023 5:12:47 PM, ArticleCitation = Genet Med 2020;22:686-697, CreatedOn = 12/11/2019 12:28:25 PM, DocumentVersionKey = ec085a5c-1c56-4686-828a-43e604e1dfde
SP Results DataTableResults ResultRow = 347
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Laboratory-diagnosis-of-disorders
content.PublicationDate = 12/11/2019 12:00:00 AM, dtFromDate = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, dr[PublicationDate] = 12/11/2019 12:00:00 AM
InRange true
SP Results DataTableResults TAG RECORD AlternateName = Updated-recommendations-CFTR-carrier-screening, Description = Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG) (includes supplemental material), Name = Updated-recommendations-CFTR-carrier-screening, UpdatedOn = 12/7/2023 5:12:46 PM, ArticleCitation = Genet Med 2023;25:100867, CreatedOn = 6/14/2023 2:36:11 PM, DocumentVersionKey = 8697064c-8256-4da0-a2c2-56f695b0fa73
SP Results DataTableResults ResultRow = 348
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Updated-recommendations-CFTR-carrier-screening
content.PublicationDate = 6/13/2023 12:00:00 AM, dtFromDate = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, dr[PublicationDate] = 6/13/2023 12:00:00 AM
InRange true
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 = 349
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 = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, dr[PublicationDate] = 7/25/2013 12:00:00 AM
InRange true
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 = 350
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 = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, 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 = 351
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 = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, 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 = 352
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Tyrosine-Elevated-Algorithm
content.PublicationDate = 3/7/2022 12:00:00 AM, dtFromDate = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, 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 = 353
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 = 7/17/1974 9:29:39 PM, dtToDate = 7/18/2074 9:29:39 PM, 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 = 354
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/SearchableFileUpload
DataTableResults.Rows.Count = 354
dtShow.Rows.Count = 353
rdoListDate.SelectedValue = RecentFirst
viewstate configThreeColumns get = 0
configThreeColumns1 = 0
NextStartPageNumber = 11
dTotalPages = 44.125
iTotalPages = 45
m_ProcessPrevious
NumPageButtonsToShow1 = 45
NumPageButtonsToShow2 = 45
m_PageNumberButtonCount = 10
m_TotalPages = 45
Previous ctr = 1
Previous NumPageButtonsToShow = 45
Previous ctr = 2
Previous NumPageButtonsToShow = 45
Previous ctr = 3
Previous NumPageButtonsToShow = 45
Previous ctr = 4
Previous NumPageButtonsToShow = 45
Previous ctr = 5
Previous NumPageButtonsToShow = 45
Previous ctr = 6
Previous NumPageButtonsToShow = 45
Previous ctr = 7
Previous NumPageButtonsToShow = 45
Previous ctr = 8
Previous NumPageButtonsToShow = 45
Previous ctr = 9
Previous NumPageButtonsToShow = 45
Previous ctr = 10
Previous NumPageButtonsToShow = 45
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 = 353
dtShow2.Rows.Count = 8
viewstate configThreeColumns get = 0
RUN OneColumns
Page_load m_configTopicTypeArea = True

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