CDE Detailed Report

Disease: Parkinson's Disease
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Parkinson's Disease Genetics

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
C18027 Comment text CmmntTxt Provide any additional information that pertains to the question Provide any additional information that pertains to the question Comments Alphanumeric Adult Supplemental 3.00 2013-07-16 14:01:43.01 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry
C59084 Genetic study type GeneticStudyTyp Type of genetics study conducted Type of genetics study conducted Study type(s) Control set;Longitudinal;Case-control;Parent-offspring trios;Cohort;Clinical trial;Other, specify;Case set Control set;Longitudinal;Case-control;Parent-offspring trios;Cohort;Clinical trial;Other specify;Case set Alphanumeric

Choose all that apply

 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 1.00 2022-07-27 22:11:02.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected
C12795 Gene coding region sequenced indicator GeneCodingRegionSeqInd Indicator of whether the entire coding region was sequenced for the allele of the gene for missense/nonsense variant or point mutations or pseudoexons Indicator of whether the entire coding region was sequenced for the allele of the gene for missense/nonsense variant or point mutations or pseudoexons Was the entire coding region sequenced Yes;No Yes;No Alphanumeric Adult Supplemental 3.20 2024-02-29 15:54:55.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C12807 Gene second disease allele indicator GeneSecondDiseaseAlleleInd Indicator of whether a second disease allele was identified Indicator of whether a second disease allele was identified Was a second disease allele identified? Yes;No Yes;No Alphanumeric Adult Supplemental 3.10 2024-02-29 15:55:04.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C19600 Genetic test diagnostic laboratory name GentTestDiagLabNam Name of diagnostic laboratory for genetic testing Name of diagnostic laboratory for genetic testing Lab name Alphanumeric Adult Supplemental 1.00 2014-12-31 09:28:06.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry
C59157 Genetic study data analysis category type GeneticStudyDataAnlysisCatTyp Type of analysis category data expected for the genetics study Type of analysis category data expected for the genetics study Analysis Bulk RNA Seq derived expression;Array-derived methylation;Array-derived expression;Association/Linkage results Bulk RNA Seq derived expression;Array-derived methylation;Array-derived expression;Association/Linkage results Alphanumeric

Choose all that apply

 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 1.00 2022-07-28 11:24:29.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected
C16196 Biological sample in repository study initially requested name BioSampReposStdyInReqName The name of the study for which the biological sample or specimen was initially taken The name of the study for which the biological sample or specimen was initially taken Specify the study for which the sample was initially taken Alphanumeric Adult Supplemental-Highly Recommended 3.10 2024-02-29 15:54:08.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry
C59074 Diagnosis Parkinsons disease support sign type DiagnosParknsnDzSuprtSignTyp Type of sign supportive of Parkinsons disease diagnosis Type of sign supportive of Parkinsons disease diagnosis Signs Supportive of PD Diagnosis Cardiac sympathetic denervation;REM-sleep behavior disorder;Asymmetric Onset;Bradykinesia;Resting Tremor;Postural Instability;Rigidity;Gait difficulties;Levo-dopa induced dyskinesia;Olfactory loss Cardiac sympathetic denervation;REM-sleep behavior disorder;Asymmetric Onset;Bradykinesia;Resting Tremor;Postural Instability;Rigidity;Gait difficulties;Levo-dopa induced dyskinesia;Olfactory loss Alphanumeric Question and permissible values from Coriell Institute for Medical Research used and modified with permission. https://www.coriell.org/1/About-Us/Legal-Notice Adult Supplemental-Highly Recommended 1.00 2022-07-27 21:02:34.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected
C12783 Variant mutational analysis results available indicator VarMutAnlysisResltsAvailInd Indicator of whether the variant or mutational analysis results are available on this participant Indicator of whether the variant or mutational analysis results are available on this participant Variant analysis results available on this participant Yes;No Yes;No Alphanumeric

IF NO, Stop completing form

 Adult Supplemental 3.20 2024-02-29 15:54:36.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C59172 Gene pathogenic certainty status GenePathCertStat Status related to pathogenic certainty for the gene screened in the participant/subject Status related to pathogenic certainty for the gene screened in the participant/subject Pathogenic Certainty Other, specify;Benign;Variant of unknown significance (VUS);Possibly pathogenic;Probably pathogenic;Definitely pathogenic Other, specify;Benign;Variant of unknown significance (VUS);Possibly pathogenic;Probably pathogenic;Definitely pathogenic Alphanumeric Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. Adult Supplemental 1.00 2022-07-28 12:00:05.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
CSV