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
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
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
C59091 Genetic study type other text GeneticStudyTypOTH The free-text field related to 'Genetic study type ', specifying other text. Type of genetics study conducted The free-text field related to 'Genetic study type ', specifying other text. Type of genetics study conducted Other, specify Alphanumeric 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 09:27:55.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry
C12796 Gene targeted variant mutational analysis indicator GeneTargetedVarMutAnlysisInd Indicator of whether variant or mutational analysis was targeted at a particular variant or mutation Indicator of whether variant or mutational analysis was targeted at a particular variant or mutation Targeted variant analysis only Yes;No Yes;No Alphanumeric

If YES, answer type of analysis

 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
C18874 Gene variant mutation category other text GeneVarMutationCatOTH The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene Other, specify Alphanumeric Adult Supplemental 3.20 2024-02-29 15:54:49.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry
C19605 Genetic test mitochondrial DNA variant mutation quantitative analysis evaluation method type GeneTestMDNAVrMutQntAnEMTyp Type of evaluation method in quantitative analysis for mitochondrial DNA variant or mutation Type of evaluation method in quantitative analysis for mitochondrial DNA variant or mutation Quantitative analyses (Heteroplasmy assessment) Evaluation method Restriction PCR;Deep sequencing;Allele specific PCR;qPCR (deletions, depletion);Southern blot;Other Restriction PCR;Deep sequencing;Allele specific PCR;qPCR (deletions, depletion);Southern blot;Other Alphanumeric Adult Supplemental 2.00 2024-02-29 15:55:05.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C59161 Genotype platform name GenotypePlatformName Name of the genotype platform Name of the genotype platform Name and version Alphanumeric 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 11:29:59.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry
C12808 Gene sequenced with no variant mutation indicator GeneSeqNoVarMutationsInd Indicator of whether there are additional genes sequenced with no variants or mutations detected Indicator of whether there are additional genes sequenced with no variants or mutations detected Are there additional genes sequenced with no variants detected? Yes;No Yes;No Alphanumeric

If YES, indicate

 Adult Supplemental 3.10 2024-02-29 15:54:41.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
CSV