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
C16198 Biological sample in repository consent form signed indicator BioSampInReposConsentFmSignInd Indicates whether the participant provided signed informed consent for the biological sample collection and storage in a repository Indicates whether the participant provided signed informed consent for the biological sample collection and storage in a repository Did the participant sign a consent form at the time the sample was taken? Yes;No;Unknown Yes;No;Unknown Alphanumeric Adult Supplemental-Highly Recommended 3.20 2024-02-29 15:54:09.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C59076 Response anti parkinsonism therapy status RespnsAntiParknsmTherapyStat Status of the participant's/subject's response to anti-parkinsonism therapy Status of the participant's/subject's response to anti-parkinsonism therapy Response to anti-parkinsonism therapy Tested and unresponsive;Inadequate dose;Not tried/not given;Tried and responsive Tested and unresponsive;Inadequate dose;Not tried/not given;Tried and responsive Alphanumeric Question and permissible values from Coriell Institute for Medical Research used and modified with permission.<br />https://www.coriell.org/1/About-Us/Legal-Notice Adult Supplemental-Highly Recommended 1.00 2022-07-27 21:31:16.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C12785 Gene variant mutation detected result type GeneVarMutDetectedResltTyp Type of gene variant or mutation detected Type of gene variant or mutation detected Variant(s) detected Compound Heterozygous;No pathogenic variant detected;Heterozygous;Digenic (variants in more than one gene);Homozygous;Hemizygous Compound Heterozygous;No pathogenic variant detected;Heterozygous;Digenic (variants in more than one gene);Homozygous;Hemizygous Alphanumeric Adult Supplemental 3.10 2024-02-29 15:54:39.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected
C59174 Genetic test result participant inform indicator GeneTestRsltPatInfrmInd Indicator of whether the participant was informed of the genetic test results Indicator of whether the participant was informed of the genetic test results Was the patient informed of the test results? No;Yes No;Yes Alphanumeric

If YES, indicate source of the information

 Adult Supplemental-Highly Recommended 1.10 2024-02-29 15:54:03.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C19014 Gene detection method type other text GeneDetectMethdTypOTH The free-text field related to 'Gene detection method type' specifying other text. The method used to detect the gene mutation or variant The free-text field related to 'Gene detection method type' specifying other text. The method used to detect the gene mutation or varian Other, Specify Alphanumeric Adult Supplemental 3.10 2022-07-27 17:00:11.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry
C59098 Database of Genotypes and Phenotypes study title text DbGapStudyTitleTxt The free-text field to specify the title of the of the database of Genotypes and Phenotypes (dbGaP) study The free-text field to specify the title of the of the database of Genotypes and Phenotypes (dbGaP) study If YES, please provide the phs accession number and/or title of the study 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 09:32:49.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry
C12798 Gene missense nonsense variant point mutation location type GeneMsNsVrPointMutLocTyp Type of location of the missense/nonsense variant or point mutation Type of location of the missense/nonsense variant or point mutation Missense/nonsense variant location Exon (point mutation);Intron;Other Exon (point mutation);Intron;Other Alphanumeric

Choose one

 Adult Supplemental 4.00 2024-02-29 15:54:57.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C19610 Genetic test result date GentTestResltDat The date of reporting of the genetic test results The date of reporting of the genetic test results Date report issued Date or Date & Time Adult Supplemental 1.00 2014-12-31 12:04:57.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry
C59164 Genotype platform vendor text GenotypePlatformVendorTxt The free-text field to specify the genotype platform vendor The free-text field to specify the genotype platform vendor Vendor 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 11:34:08.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry
C12944 Variant mutational analysis performed indicator VarMutAnlysisPerfInd Indicator of whether the variant or mutational analysis was performed on the participant Indicator of whether the variant or mutational analysis was performed on the participant Variant analysis performed on the participant Yes;No Yes;No Alphanumeric

If NO, was variant analysis performed on a family member?

 Adult Supplemental 3.20 2024-02-29 15:54:37.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
CSV