CDE Detailed Report

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

Displaying 1 - 50 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
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

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 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

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

Free-Form Entry

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

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

Free-Form Entry

C59081 Biological sample allow share consent form indicator BioSampAllowShareConsentFrmInd Indicates whether the participant's provided signed informed consent form for the biological sample collection and storage in a repository allows for sharing of the sample Indicates whether the participant's provided signed informed consent form for the biological sample collection and storage in a repository allows for sharing of the sample Does the consent form for this sample allow for sharing of the sample? No;Yes No;Yes Alphanumeric Adult Supplemental-Highly Recommended 1.10 2024-02-29 15:54:10.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12790 Gene exon first deleted duplicated name GeneExonFirstDelDupName Name of the first exon deleted or duplicated Name of the first exon deleted or duplicated First Exon affected Alphanumeric Adult Supplemental 3.10 2024-02-29 15:54:51.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C17894 Gene missense nonsense variant point mutation location intron text GeneMsNsVrPntMutLocIntronTxt The free-text field about missense/nonsense variant or point mutation at the intron The free-text field about missense/nonsense variant or point mutation at the intron Intron 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

Free-Form Entry

C19595 Genetic test karyotype tissue type GenetTestKaryotypeTisTyp Type of tissue tested in the karyotype test Type of tissue tested in the karyotype test What tissue? Blood;Amnio;Skin;Other, please specify Blood;Amnio;Skin;Other, please specify Alphanumeric Adult Supplemental 1.00 2014-12-30 17:00:40.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C59116 Genetic study data array data category type GeneticStudyDataArryDataCatTyp Type of array data category data expected for the genetics study Type of array data category data expected for the genetics study Array Data Methylation Array;Expression Array;SNP Array Methylation Array;Expression Array;SNP Array 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 10:11:54.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12804 Gene cDNA variant mutation name GeneCDNAVarMutName Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation cDNA Alphanumeric

If relevant

http://varnomen.hgvs.org/ Adult Supplemental 3.20 2024-02-29 15:55:02.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C59059 Diagnosis primary clinical parkinsonism type DiagnosPrimryClinParknsmTyp Type of primary clinical parkinsonism diagnosis Type of primary clinical parkinsonism diagnosis Primary Clinical Diagnosis Parkinson's disease;Parkinson's disease dementia;Multiple system atrophy;Progressive supranuclear palsy;Other specify;Dementia with Lewy Bodies Parkinson's disease;Parkinson's disease dementia;Multiple system atrophy;Progressive supranuclear palsy;Other specify;Dementia with Lewy Bodies Alphanumeric

Check one

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 2022-07-26 10:11:10.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C10846 Gene variant or mutation indicator GeneVarOrMutInd Indicator whether a variant or mutation was found in the common gene screened in the participant/subject for the disease or disorder Indicator whether a variant or mutation was found in the common gene screened in the participant/subject for the disease or disorder Variant shown? No;Unknown;Yes, list and specify No;Unknown;Yes, list and specify Alphanumeric Adult Supplemental 3.10 2022-07-27 16:52:28.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C59169 Gene promoter affect exon deleted duplicated indicator GenePromoAffctExonDelDupInd Indicator of whether known gene promoters were affected by exonic deletions/duplications Indicator of whether known gene promoters were affected by exonic deletions/duplications Are known gene promoters affected No;Yes;Unknown No;Yes;Unknown Alphanumeric Adult Supplemental 1.10 2024-02-29 15:54:54.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C15557 Gene detection method type GeneDetectMethdTyp The method used to detect the gene mutation or variant The method used to detect the gene mutation or varian Detection method, specify Direct sequencing (PCR);TaqMan assay;Other, specify;Panel;Whole genome sequencing;Whole exome sequencing;Long Read Sequencing;Sanger;Multiplex Ligation-dependent Probe Amplification (MLPA);Fluorescent In-Situ Hybridization (FISH) Direct sequencing (PCR);TaqMan assay;Other, specify;Panel;Whole genome sequencing;Whole exome sequencing;Long Read Sequencing;Sanger;Multiplex Ligation-dependent Probe Amplification (MLPA);Fluorescent In-Situ Hybridization (FISH) Alphanumeric

Choose all that apply

Adult Supplemental 3.00 2013-07-16 14:01:43.01 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C59082 Brain family member available indicator BrainFmlyMemberAvailableInd Indicator of whether a brain of the participant's/subject's family member is available in a repository Indicator of whether a brain of the participant's/subject's family member is available in a repository Is a brain available from a family member? No;Yes No;Yes Alphanumeric

If YES, answer the questions on the brain donation details

Adult Supplemental-Highly Recommended 1.00 2022-07-27 22:05:20.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12791 Gene exon last deleted duplicated name GeneExonLstDelDupName Name of the exon last deleted or duplicated Name of the exon last deleted or duplicated Last Exon affected Alphanumeric Adult Supplemental 3.10 2024-02-29 15:54:52.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C17895 Genes sequenced with no mutations text GeneSeqNoMutationsTxt The free-text field about additional genes sequenced with no mutations detected The free-text field about additional genes sequenced with no mutations detected If YES, indicate Alphanumeric Adult Supplemental 3.10 2024-02-29 15:54:42.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C19598 Genetic test tissue other text GentTestTisOTH The free-text field to specify the type of tissue tested for genetic test The free-text field to specify the type of tissue tested for genetic test Other, please specify Alphanumeric Adult Supplemental 1.10 2024-02-29 15:54:44.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 50

Free-Form Entry

C59119 Genetic study data genotype category type GeneticStudyDataGenotypeCatTyp Type of genotype category data expected for the genetics study Type of genotype category data expected for the genetics study Genotypes Array CGH CNVs;Somatic SNV (MAF);Genotype calls derived from Sequence;CNV calls derived from Sequencing;CNV calls from microarray;Array derived genotypes Array CGH CNVs;Somatic SNV (MAF);Genotype calls derived from Sequence;CNV calls derived from Sequencing;CNV calls from microarray;Array derived genotypes 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 10:16:12.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12805 Gene mRNA variant mutation name GeneMRNAVarMutName Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation mRNA Alphanumeric

If relevant

http://varnomen.hgvs.org/ Adult Supplemental 3.20 2024-02-29 15:55:03.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C59060 Diagnosis primary clinical parkinsonism type other text DiagnosPrimryClinParknsmTypOTH The free-text field related to 'Diagnosis primary clinical parkinsonism type', specifying other text. Type of primary clinical parkinsonism diagnosis The free-text field related to 'Diagnosis primary clinical parkinsonism type', specifying other text. Type of primary clinical parkinsonism diagnosis Other (specify) Alphanumeric

No instructions available

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 2022-07-26 11:32:41.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C12690 Gene name GeneName Name of the gene analyzed Name of the gene analyzed Gene Name Alphanumeric Adult Supplemental 3.00 2013-07-24 11:38:01.2 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C59170 Gene variant name GeneVarName Name of the gene variant Name of the gene variant Name of variant(s) Alphanumeric Adult Supplemental 1.00 2022-07-28 11:56:46.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C16194 Biological sample in repository indicator BioSampInReposInd Indicates whether participant had a biological sample or specimen drawn and banked in a repository Indicates whether participant had a biological sample or specimen drawn and banked in a repository Has the participant had a sample drawn for DNA banking? Yes;No;Unknown Yes;No;Unknown Alphanumeric

If YES, answer the questions on the sample details

Adult Supplemental-Highly Recommended 3.20 2024-02-29 15:54:06.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C59083 Repository contact text RepositoryContactText The free-text field to specify the contact information for a biological sample repository The free-text field to specify the contact information for a biological sample repository Repository contact Alphanumeric Adult Supplemental-Highly Recommended 1.00 2022-07-27 22:08:47.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C12793 Gene exon predicted reading frame type GeneExonPredReadFrameTyp Type of predicted reading frame Type of predicted reading frame Predicted reading frame IN;Out;Unknown IN;Out;Unknown Alphanumeric Adult Supplemental 4.00 2024-03-18 15:21:17.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17896 Variant mutational analysis not performed reason VarMutAnlysisNotPerfRsn Reason for why the mutational analysis was not performed Reason for why the mutational analysis was not performed If NO, provide explanation Alphanumeric Adult Supplemental 3.20 2024-02-29 15:54:38.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C19599 Gene text GeneTxt The free-text field to specify genes screened in the participant for the disease or disorder The free-text field to specify genes screened in the participant for the disease or disorder What genes? Alphanumeric Adult Supplemental 1.10 2024-02-29 15:54:45.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 1000

Free-Form Entry

C59141 Genetic study data sequencing category type GeneticStudyDataSeqncngCatTyp Type of sequencing category data expected for the genetics study Type of sequencing category data expected for the genetics study Sequencing Whole Genome;Whole Exome;Targeted Genome;Targeted Exome;Whole Transciptome;Targeted Transcriptome;Epigenomic Marks;Sanger;16S rRNA Whole Genome;Whole Exome;Targeted Genome;Targeted Exome;Whole Transciptome;Targeted Transcriptome;Epigenomic Marks;Sanger;16S rRNA 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 2.00 2024-03-18 15:21:17.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12806 Gene protein variant mutation name GeneProteinVarMutName Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation Protein Alphanumeric

If relevant

http://varnomen.hgvs.org/ Adult Supplemental 3.20 2024-02-29 15:55:04.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C59061 Diagnosis primary clinical parkinsonism status DiagnosPrimryClinParknsmStat Status of the primary clinical parkinsonism diagnosis Status of the primary clinical parkinsonism diagnosis Primary Clinical Diagnosis Absent;Present Absent;Present Alphanumeric

No instructions available

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 2022-07-26 11:35:48.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12782 Gene additional variants unknown significance indicator GeneAddVarUnknownSignfcnceInd Indicator of whether there are additional variants in other genes of unknown significance Indicator of whether there are additional variants in other genes of unknown significance Are there additional variants in other genes of unknown significance? Yes;No Yes;No Alphanumeric

If YES, indicate

Adult Supplemental 3.10 2024-02-29 15:54:39.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C59171 Gene copy number change name GeneCopyNumChngName In cases of an genetic variant or mutation, specify the copy number change In cases of an genetic variant or mutation, specify the copy number change Copy number change Alphanumeric Adult Supplemental 1.00 2022-07-28 11:58:14.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C16195 Biological sample in repository specimen type BioSampInReposSpecmnTyp Type of biological sample or specimen collected and stored in a repository Type of biological sample or specimen collected and stored in a repository Specify the type of sample drawn Saliva;Blood;Other, specify;Buccal smear Saliva;Blood;Other, specify;Buccal smear Alphanumeric Adult Supplemental-Highly Recommended 4.00 2024-03-18 15:21:17.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

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

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

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

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

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

CSV