CDE Detailed Report

Disease: content
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: welcome

Displaying 101 - 110 of 110
CDE ID CDE Name Variable Name Definition Short Description Question Text Permissible Values Description Data Type Disease Specific Instructions Disease Specific Reference Population Classification (e.g., Core) Version Number Version Date CRF Name (CRF Module / Guidance) Subdomain Name Domain Name Size Input Restrictions Min Value Max Value Measurement Type External Id Loinc External Id Snomed External Id caDSR External Id CDISC
C17893 Gene missense nonsense variant point mutation location other text GeneMsNsVrPntMutLocOtherTxt The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron Other Alphanumeric Adult Supplemental 3.20 2024-02-29 15:54:59.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C59080 Biological sample in repository specimen type other text BioSampInReposSpecmnTypOTH The free-text field related to 'Biological sample in repository specimen type', specifying other text. Type of biological sample or specimen collected and stored in a repository The free-text field related to 'Biological sample in repository specimen type', specifying other text. Type of biological sample or specimen collected and stored in a repository Other, specify Alphanumeric Adult Supplemental-Highly Recommended 1.00 2022-07-27 21:57:47.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C12789 Gene deletions duplications limits clearly defined indicator GeneDelDupLimClearlyDefInd Indicator of whether the limits of deletions and duplications are defined Indicator of whether the limits of deletions and duplications are defined Are the limits of the copy number completely defined? Yes;No;Unknown Yes;No;Unknown Alphanumeric Adult Supplemental 3.10 2024-02-29 15:54:50.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C19592 Genetic test mitochondrial DNA genome deletion duplication analysis tissue type GentTestMTDNAGenDelDupAnTisTyp Type of tissue tested in the mtDNA genome deletion/duplication analysis test Type of tissue tested in the mtDNA genome deletion/duplication analysis test What tissue? Blood;Muscle;Liver;Other, please specify Blood;Muscle;Liver;Other, please specify Alphanumeric Adult Supplemental 2.00 2024-02-29 15:54:45.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C59114 Genetic study data sample category type GeneticStudyDataSampleCatTyp Type of sample category data expected for the genetics study Type of sample category data expected for the genetics study Sample Types Microbiome;Mitochondria;RNA;DNA;Tumor/Normal;Germline;From Repository Microbiome;Mitochondria;RNA;DNA;Tumor/Normal;Germline;From Repository Alphanumeric

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 Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. Adult Supplemental 2.00 2024-02-29 15:54:27.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected
C12803 Gene variant mutation implications confirmed mRNA analysis indicator GeneVrrMutImpConMRNAAnlyssInd Indicator of whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis Indicator of whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis If YES, were implications confirmed Yes;No Yes;No Alphanumeric Adult Supplemental 3.20 2024-02-29 15:55:02.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C15549 Gene amino acid change name GeneAminacidChngName In cases of an genetic variant or mutation, specify the amino acid change In cases of an genetic variant or mutation, specify the amino acid change Amino acid change Alphanumeric Adult Supplemental 3.00 2013-07-16 14:01:43.01 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C56038 Genetic test performed other text GeneTestPerfrmedOthrTxt The free-text field specifying the other genetic test that was performed The free-text field specifying the other genetic test that was performe Other, specify Alphanumeric Adult Supplemental 1.10 2022-07-27 16:49:12.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C10845 Gene screened indicator GeneScrndInd Indicator whether the participant/subject was screened for the specific gene mutation (e.g., Superoxide dismutase 1, Fused in sarcoma, TAR DNA binding protein) commonly seen in the disease or disorder Indicator whether the participant/subject was screened for the specific gene mutation (e.g., Superoxide dismutase 1, Fused in sarcoma, TAR DNA binding protein) commonly seen in the disease or disorder Test performed? Yes;No;Unknown Yes;No;Unknown Alphanumeric Adult Supplemental 3.10 2022-07-27 16:51:04.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C59168 Gene whole affect exon deleted duplicated indicator GeneWhlAffctExonDelDupInd Indicator of whether the whole gene was affected by exonic deletions/duplications Indicator of whether the whole gene was affected by exonic deletions/duplications Whole gene affected? No;Yes;Unknown No;Yes;Unknown Alphanumeric Adult Supplemental 1.10 2024-02-29 15:54:52.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
CSV