CDE Detailed Report

Disease: system
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: files

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
C18875 Gene targeted variant mutational analysis other text GeneTarVarMutAnlysisOTH The free-text field related to 'Gene targeted variant or mutational analysis type', specifying other text. Type of targeted variant or mutational analysis performed for the gene The free-text field related to 'Gene targeted variant or mutational analysis type', specifying other text. Type of targeted variant or mutational analysis performed for the gene Other, specify Alphanumeric Adult Supplemental 3.20 2024-02-29 15:54:57.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry
C59093 Database of Genotypes and Phenotypes phenotype study accession number text DbGapPhsAcesionsnNumTxt The free-text field to specify the study phenotype study (phs) accession number for the database of Genotypes and Phenotypes (dbGaP) study The free-text field to specify the study phenotype study (phs) accession number for 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 09:30:27.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry
C12797 Gene targeted variant mutational analysis type GeneTarVarMutAnlysisTyp Type of targeted variant or mutational analysis performed for the gene Type of targeted variant or mutational analysis performed for the gene If YES, type of analysis Hot-spot;Other, specify;Known familial variant Hot-spot;Other, specify;Known familial variant Alphanumeric Adult Supplemental 3.20 2024-02-29 15:54:56.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C12818 Gene second allele identical indicator GeneSecondAlleleIdenticalInd Indicator of whether allele #2 is identical to allele #1 Indicator of whether allele #2 is identical to allele #1 Is allele #2 identical to allele #1 Yes;No Yes;No Alphanumeric

Homozygous only If NO, repeat filling out allele specific information for Allele #2"

 Adult Supplemental 3.10 2024-02-29 15:55:05.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C19607 Genetic test mitochondrial DNA variant mutation quantitative analysis heteroplasmy level type GenetcTestMDNAMQntAnHLTyp Type of heteroplasmy level in quantitative analysis for mitochondrial DNA variant or mutation Type of heteroplasmy level in quantitative analysis for mitochondrial DNA variant or mutation Quantitative analyses (Heteroplasmy assessment) Heteroplasmy level Blood;Muscle;Urinary sediment;Buccal cells;Other Blood;Muscle;Urinary sediment;Buccal cells;Other Alphanumeric Adult Supplemental 2.00 2024-02-29 15:55:07.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C59163 Genotype platform version text GenotypePlatformVersionTxt The free-text field to specify the genotype platform version The free-text field to specify the genotype platform version 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 11:32:32.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry
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
CSV