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 = 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 = Laboratory analysis of acylcarnitines 2020 update, Description = Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG) (update of Rinaldo et al. 2008), Name = Laboratory-analysis-of-acylcarnitines-2020-update, UpdatedOn = 12/7/2023 5:33:40 PM, ArticleCitation = Genet Med 2021;23:249-258, CreatedOn = 10/19/2020 10:08:07 AM, DocumentVersionKey = cc284e38-31eb-4639-8c0c-18dae6d517d5
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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 = Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Turkish), Description = Phenylalanine hydroxylase deficiency: diagnosis and management guideline (Turkish, includes supplemental material), Name = Phenylalanine-hydroxylase-deficiency-diagnosis-and-management-guideline-Turkish, UpdatedOn = 12/7/2023 5:33:26 PM, ArticleCitation = Genet Med 2014;16:188-200, CreatedOn = 5/15/2018 9:47:38 AM, DocumentVersionKey = be113bc5-75a8-4d10-af10-2e5b1acd4ba5
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content.PublicationDate = 1/2/2014 12:00:00 AM, dtFromDate = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 1/2/2014 12:00:00 AM
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SP Results DataTableResults TAG RECORD AlternateName = Phenylalanine hydroxylase deficiency (PAH) Newborn Screening Algorithm, Description = Phenylalanine hydroxylase deficiency (PAH) Newborn Screening Algorithm, Name = PKU-Algorithm, UpdatedOn = 12/7/2023 5:33:23 PM, ArticleCitation = , CreatedOn = 5/15/2018 9:48:02 AM, DocumentVersionKey = 7043ce1a-5dcb-4d63-956f-25ad5be0d9e9
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SP Results DataTableResults TAG RECORD AlternateName = Clinical-Application-Polygenic-Risk-Scores, Description = The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG), Name = Clinical-Application-Polygenic-Risk-Scores, UpdatedOn = 12/7/2023 5:33:20 PM, ArticleCitation = Genet Med 2023;25:100803, CreatedOn = 3/23/2023 12:55:25 PM, DocumentVersionKey = 74d98f3a-ea88-4b4b-a2c8-becf5104c90c
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SP Results DataTableResults TAG RECORD AlternateName = DNA-based-screening-and-personal-health, Description = DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG), Name = DNA-based-screening-and-personal-health, UpdatedOn = 12/7/2023 5:33:18 PM, ArticleCitation = Genet Med 2021;23:979-988, CreatedOn = 3/31/2021 7:36:48 AM, DocumentVersionKey = ba4315c5-db28-400d-951f-cbfe20062633
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SP Results DataTableResults TAG RECORD AlternateName = X-Linked Adrenoleukodystrophy (X-ALD) ACT Sheet, Description = X-linked Adrenoleukodystrophy (X-ALD) Newborn Screening ACT Sheet, Name = X-linked Adrenoleukodystrophy (X-ALD) Newborn Screening ACT Sheet, UpdatedOn = 12/7/2023 5:33:03 PM, ArticleCitation = , CreatedOn = 4/21/2020 1:53:25 PM, DocumentVersionKey = defd9881-9b49-4d26-b4d0-67fea8598f88
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SP Results DataTableResults TAG RECORD AlternateName = Considerations in healthcare reform for patients and families with genetic diseases: a statement of, Description = Considerations in healthcare reform for patients and families with genetic diseases: a statement of the American College of Medical Genetics and Genomics, Name = Healthcare-Reform-Genetic-Diseases, UpdatedOn = 12/7/2023 5:32:48 PM, ArticleCitation = Genet Med 2018;20:561, CreatedOn = 5/15/2018 9:47:18 AM, DocumentVersionKey = f880ca7b-9e50-4a85-a8e1-6bee80c38038
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SP Results DataTableResults TAG RECORD AlternateName = Solid-organ-transplantation-in-MMA-and-PA, Description = Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) (includes supplemental material), Name = Solid-organ-transplantation-in-MMA-and-PA, UpdatedOn = 12/7/2023 5:32:44 PM, ArticleCitation = Genet Med 2023;25:100316, CreatedOn = 12/19/2022 3:41:17 PM, DocumentVersionKey = c52392ec-eb66-4364-9944-1d0f07db460c
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SP Results DataTableResults TAG RECORD AlternateName = Maple Syrup Urine Disease (MSUD) Newborn Screening Algorithm, Description = Maple Syrup Urine Disease (MSUD) Newborn Screening Algorithm, Name = Leucine-Elevated, UpdatedOn = 12/7/2023 5:26:14 PM, ArticleCitation = , CreatedOn = 5/15/2018 10:33:14 AM, DocumentVersionKey = c3126eb0-90bf-4690-97f3-e04723ce5519
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SP Results DataTableResults TAG RECORD AlternateName = Citrin Deficiency (Citrullinemia II) [Urea Cycle Disorder], Description = Citrin Deficiency (Citrullinemia II) [Urea Cycle Disorder], Name = Citrin-DeficiencyCitrullinemia-IIUrea-Cycle-Disorder, UpdatedOn = 12/7/2023 5:13:19 PM, ArticleCitation = , CreatedOn = 5/15/2018 9:47:51 AM, DocumentVersionKey = 62be0f5f-79b8-4f8d-a802-7e7411cccc9c
SP Results DataTableResults ResultRow = 340
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Citrin-DeficiencyCitrullinemia-IIUrea-Cycle-Disorder
content.PublicationDate = 5/15/2018 12:00:00 AM, dtFromDate = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 5/15/2018 12:00:00 AM
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SP Results DataTableResults TAG RECORD AlternateName = Technical Standards and Guidelines for Reproductive Screening in theAshkenazi Jewish Population, Description = Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population, Name = Technical-Standards-and-Guidelines-for-Reproductive-Screening-in-theAshkenazi-Jewish-Population, UpdatedOn = 12/7/2023 5:13:16 PM, ArticleCitation = Genet Med 2008;10:57-72, CreatedOn = 5/15/2018 9:46:56 AM, DocumentVersionKey = 2eaa44b3-7df8-446b-a47d-e6a94373cbee
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SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Technical-Standards-and-Guidelines-for-Reproductive-Screening-in-theAshkenazi-Jewish-Population
content.PublicationDate = 1/1/2008 12:00:00 AM, dtFromDate = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 1/1/2008 12:00:00 AM
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SP Results DataTableResults TAG RECORD AlternateName = Fabry Newborn Screening ACT Sheet, Description = Fabry Newborn Screening ACT Sheet, Name = Fabry, UpdatedOn = 12/7/2023 5:13:12 PM, ArticleCitation = , CreatedOn = 3/10/2022 2:23:08 PM, DocumentVersionKey = 046c1524-a69f-4417-b963-1c9025b716be
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content.PublicationDate = 3/10/2022 12:00:00 AM, dtFromDate = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 3/10/2022 12:00:00 AM
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SP Results DataTableResults TAG RECORD AlternateName = DMD Elevated Creatine Kinase Muscle Isoform ACT Sheet, Description = DMD Elevated Creatine Kinase Muscle Isoform ACT Sheet, Name = DMD Elevated Creatine Kinase Muscle Isoform ACT Sheet, UpdatedOn = 12/7/2023 5:13:10 PM, ArticleCitation = , CreatedOn = 1/29/2020 11:57:36 AM, DocumentVersionKey = 3491d306-d906-446e-9a05-7acbed58de74
SP Results DataTableResults ResultRow = 343
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/DMD Elevated Creatine Kinase Muscle Isoform ACT Sheet
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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 = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 5/13/2009 12:00:00 AM
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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
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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 = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 1/8/2020 12:00:00 AM
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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
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content.PublicationDate = 4/26/2018 12:00:00 AM, dtFromDate = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 4/26/2018 12:00:00 AM
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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
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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 = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 4/29/2018 12:00:00 AM
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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 = 348
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Glutaric Acidemia II Newborn Screening ACT Sheet
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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 = 349
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Galactosemia-GALT-Deficiency
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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 = 350
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/chromosomal-microarray-analysis
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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
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SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Laboratory-diagnosis-of-disorders
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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
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content.PublicationDate = 6/13/2023 12:00:00 AM, dtFromDate = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 6/13/2023 12:00:00 AM
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SP Results DataTableResults ResultRow = 353
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 = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, 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 = 354
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 = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 1/29/2020 12:00:00 AM
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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 = 355
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 = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 9/29/2022 12:00:00 AM
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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 = 356
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Tyrosine-Elevated-Algorithm
content.PublicationDate = 3/7/2022 12:00:00 AM, dtFromDate = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 3/7/2022 12:00:00 AM
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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 = 357
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 = 11/24/1974 1:40:00 PM, dtToDate = 11/25/2074 1:40:00 PM, dr[PublicationDate] = 11/16/2019 12:00:00 AM
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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 = 358
SP Results DataTableResults DocumentPath = http://www.acmg.net/ACMG/UploadedPDFS/SearchableFileUpload
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