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
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

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

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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

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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

C59077 Genetic test result participant inform source type GeneTestResltPartInfrmSrceTyp Type of source that informed the participant of the genetic test results Type of source that informed the participant of the genetic test results If YES, who informed them of the results? Genetic counselor;Neurologist;Self Genetic counselor;Neurologist;Self (results from Direct-to-Consumer test) Alphanumeric Adult Supplemental-Highly Recommended 2.00 2024-03-18 15:21:17.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12786 Allele identifier name AlleleID Name that identifies which allele the associated data describe Name that identifies which allele the associated data describe Allele specific information Allele #1;Allele #2 Allele #1;Allele #2 Alphanumeric Adult Supplemental 4.00 2024-02-29 15:54:47.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C59175 Brain donation register indicator BrainDonationRegisterInd Indicator of whether the participant/subject has registered for brain donation Indicator of whether the participant/subject has registered for brain donation Has the participant registered for brain donation? No;Yes No;Yes Alphanumeric

If YES, name the repository

Adult Supplemental-Highly Recommended 1.00 2022-07-28 16:10:01.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17889 Gene missense nonsense variant point mutation location exon text GeneMsNsVrPointMutLocExonTxt The free-text field about missense/nonsense variant or point mutation at the exon The free-text field about missense/nonsense variant or point mutation at the exon Exon (Point Mutation) Alphanumeric Adult Supplemental 3.20 2024-02-29 15:54:58.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C59102 Data aggregate-level General Research Use appropriate indicator DataAggregateLevlGRUApprprtInd Indicator of whether the aggregate-level data is appropriate for General Research Use Indicator of whether the aggregate-level data is appropriate for General Research Use Is aggregate-level data appropriate for General Research Use? Y;N Yes;No 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 09:35:48.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12800 Gene missense nonsense variant point mutation insertion deletion type GeneMsNsVrPntMutInsertDelTyp Type of the insertion deletion of the missense/nonsense variant or point mutation Type of the insertion deletion of the missense/nonsense variant or point mutation Insertion Deletion Deletion;Insertion;Insertion/Deletion Deletion;Insertion;Insertion/Deletion Alphanumeric Adult Supplemental 3.20 2024-02-29 15:55:00.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19516 Blood sample repository name BloodSampleRepositoryName Name of repository to which the participant gave a blood sample Name of repository to which the participant gave a blood sample If YES, name of repository Alphanumeric Adult Supplemental-Highly Recommended 3.10 2024-02-29 15:54:11.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C19615 Genetic test name GentTestNam The name of the genetic test used The name of the genetic test used What type of testing was performed? Karyotype;mtDNA panel testing;mtDNA genome deletion/duplication analysis Karyotype;mtDNA panel testing;mtDNA genome deletion/duplication analysis Alphanumeric Adult Supplemental 1.00 2014-12-31 13:16:05.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C08002 Family history relative type biological sample identifier number FamHistReltvTypBioSampIDNum Identification (ID) number assigned to family member's biological sample in repository Identification (ID) number assigned to family member's biological sample in repository Sample ID Alphanumeric Adult Supplemental-Highly Recommended 3.00 2013-07-22 16:57:17.79 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C59165 Genotype platform probe count GenotypePlatformProbeCt Count of probes for the genotype platform Count of probes for the genotype platform # Probes Numeric Values 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 11:36:21.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C15520 Genetic testing performed indicator GenTestPerfInd Indicator of whether the participant had genetic testing performed Indicator of whether the participant had genetic testing performed Was genetic testing performed? Yes;No Yes;No Alphanumeric

If YES, answer questions on testing details

Adult Supplemental-Highly Recommended 3.10 2024-02-29 15:54:00.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C59078 DNA known variant status DNAKnownVariantStat Status of known variant(s) in participant's DNA Status of known variant(s) in participant's DNA Known Variant/s in subject's DNA Absent;Present;Unknown Absent;Present;Unknown Alphanumeric

If present or absent, describe

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 1.10 2024-02-29 15:54:05.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12787 Gene variant mutation category GeneVarMutationCat Category of the variant or mutation detected on the gene Category of the variant or mutation detected on the gene Variant Class Missense;Nonsense;Pseudoexon;Splice;Subexonic Insertion/Deletion;Other, specify;Reduced Number of Copies;Increased Number of Copies;Potential (variant of unknown significance) Missense;Nonsense;Pseudoexon;Splice;Subexonic Insertion/Deletion;Other, specify;Reduced Number of Copies;Increased Number of Copies;Potential (variant of unknown significance) Alphanumeric Adult Supplemental 3.20 2024-02-29 15:54:48.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C59176 Brain tissue type repository collect text BrainTissTypRepostryCollectTxt The free-text field describing the type of brain tissue collected for a repository The free-text field describing the type of brain tissue collected for a repository Type of tissue collected Alphanumeric Adult Supplemental-Highly Recommended 1.00 2022-07-28 16:13:33.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C17890 Allele number one missense nonsense variant or point mutation subclass information type AlleleNm1MNsVrOrPoMtLcSbIfTyp Type of missense/nonsense variant or point mutation subclass information, first allele number one Type of missense/nonsense variant or point mutation subclass information, first allele number one Missense/nonsense variant subclass information Insertion Deletion;Nonsense Type Insertion Deletion;Nonsense Type Alphanumeric Adult Supplemental 3.10 2022-07-27 11:11:15.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C59104 Genetic study data type category GeneticStudyDataTypCat Category of data type expected for the genetics study Category of data type expected for the genetics study Please check all data types expected for this study General;Sequencing;Analysis;Array Data;Sample Types;Genotypes General;Sequencing;Analysis;Array Data;Sample Types;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 09:38:52.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12801 Gene point mutation nonsense variant codon type GenePointMutNonsenseVrCodonTyp Type of nonsense variant or point mutation Type of nonsense variant or point mutation Nonsense Type UAA;UAG;UGA;Not applicable UAA;UAG;UGA;Not applicable Alphanumeric Adult Supplemental 3.10 2024-02-29 15:55:00.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19584 Genetic test performed year value GenetTestPerformYearVal Value of the year the genetic test was performed Value of the year the genetic test was performed What year was the genetic testing performed? Numeric Values Adult Supplemental-Highly Recommended 1.00 2014-12-29 16:40:16.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C56033 Genetic test result source type GeneTestResltSourceTyp Type of source of the participant's genetic test results Type of source of the participant's genetic test results Indicate the source(s) of the genetic test results Neurologist;Physician;Genetic counselor;Medical records;Other, specify Neurologist;Physician;Genetic counselor;Medical records;Other, specify Alphanumeric

Choose all that apply

Adult Supplemental-Highly Recommended 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

C10500 Symptom onset age value SymptomOnsetAgeVal Age when symptoms first experienced Age when symptoms first experienced Age at symptom onset Numeric Values

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 3.00 2013-07-25 08:54:08.2 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

C59166 Genotype platform URL text GenotypePlatformURLTxt The free-text field specifying the genotype platform URL (uniform resource locator) The free-text field specifying the genotype platform URL (uniform resource locator) URL 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 11:39:08.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C15539 Gene variant or mutation type GeneVarOrMutTyp The type of genetic variant or mutation shown The type of genetic variant or mutation shown Yes, list and specify Nucleotide change, specify;Amino acid change, specify;Copy number change, specify Nucleotide change, specify;Amino acid change, specify;Copy number change, specify Alphanumeric Adult Supplemental 3.10 2022-07-27 16:55:03.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C59079 DNA known variant description text DNAKnownVariantDescriptionTxt The free-text field describing the presence or absence of known variant(s) in participant's DNA The free-text field describing the presence or absence of known variant(s) in participant's DNA If present or absent, describe 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 1.10 2024-02-29 15:54:06.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12788 Gene exon copy number tested indicator GeneExonCopyNumTestInd Indicator of whether the copy number was directly tested for all exons Indicator of whether the copy number was directly tested for all exons Was the copy number directly tested for all exons? Yes;No;Unknown Yes;No;Unknown Alphanumeric Adult Supplemental 3.10 2024-02-29 15:54:49.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C59177 Research relate database of Genotypes and Phenotypes study indicator RschRealtDbGntPntStudyInd Indicator whether the study is related to a pre-existing registered NCBI database of Genotypes and Phenotypes (dbGaP) study Indicator whether the study is related to a pre-existing registered NCBI database of Genotypes and Phenotypes (dbGaP) study Is this study related to a pre-existing registered dbGaP study? Y;N Yes;No Alphanumeric

If YES, please provide the phs accession number and/or title of the study

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 16:30:52.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17891 Gene additional variants unknown significance text GeneAddVarUnkSignfcnceTxt The free-text field about additional variants in other genes of unknown significance The free-text field about additional variants in other genes of unknown significance If YES, indicate Alphanumeric Adult Supplemental 3.10 2024-02-29 15:54:40.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

Free-Form Entry

C59112 Genetic study data general category type GeneticStudyDataGeneralCatTyp Type of general category data expected for the genetics study Type of general category data expected for the genetics study General Images;Proteomic/Metabolomic;Metagenomic;Supporting Documents;Individual Sequencing;Individual Genotype;Individual Phenotype Images;Proteomic/Metabolomic;Metagenomic;Supporting Documents;Individual Sequencing;Individual Genotype;Individual Phenotype 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 15:54:26.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12802 Gene variant mutation mRNA analysis performed indicator GeneVarMutMRNAAnlysisPerfInd Indicator of whether messenger ribonucleic acid (mRNA) analysis was performed Indicator of whether messenger ribonucleic acid (mRNA) analysis was performed mRNA analysis performed Yes;No;Unknown Yes;No;Unknown Alphanumeric

If YES, were implications confirmed

Adult Supplemental 3.20 2024-02-29 15:55:01.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19590 Genetic test mitochondrial DNA panel tissue type GentTestMTDNAPanTisTyp Type of tissue tested in the mtDNA panel test Type of tissue tested in the mtDNA panel test What tissue? Blood;Muscle;Liver;Other, please specify Blood;Muscle;Liver;Other, please specify Alphanumeric Adult Supplemental 2.00 2024-02-29 15:54:43.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C56035 Genetic test result source type other text GeneTestResltSourceTypOth The free-text field related to 'Genetic test result source type', specifying other text. Type of source of the participant's genetic test results The free-text field related to 'Genetic test result source type', specifying other text. Type of source of the participant's genetic test results Other, specify Alphanumeric Adult Supplemental-Highly Recommended 2.10 2024-02-29 15:54:02.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C10844 Gene type GeneTyp The type of gene screened in the participant/subject for the disease or disorder The common genes screened in the participant/subject for the disease or disorder Gene (Test) SNCA;LRRK2;GBA;PRKN;PINK1;DJ1;VPS35;CHCHD2;Other, specify SNCA;LRRK2;GBA;PRKN;PINK1;DJ1;VPS35;CHCHD2;Other, specify Alphanumeric Adult Supplemental 3.00 2013-07-22 16:57:17.79 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C59167 Genotype platform description text GenotypePlatformDescriptionTxt The free-text field describing the genotype platform The free-text field describing the genotype platform Description Alphanumeric

Optional

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 11:41:09.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C15545 Gene nucleotide change name GeneNucleotChngName In cases of an genetic variant or mutation, specify the nucleotide name In cases of an genetic variant or mutation, specify the nucleotide change Nucleotide 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

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C59080 Biological sample in repository specimen type other text BioSampInReposSpecmnTypOTH The free-text field related to 'Biological sample in repository specimen type', specifying other text. Type of biological sample or specimen collected and stored in a repository The free-text field related to 'Biological sample in repository specimen type', specifying other text. Type of biological sample or specimen collected and stored in a repository Other, specify Alphanumeric Adult Supplemental-Highly Recommended 1.00 2022-07-27 21:57:47.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C12789 Gene deletions duplications limits clearly defined indicator GeneDelDupLimClearlyDefInd Indicator of whether the limits of deletions and duplications are defined Indicator of whether the limits of deletions and duplications are defined Are the limits of the copy number completely defined? Yes;No;Unknown Yes;No;Unknown Alphanumeric Adult Supplemental 3.10 2024-02-29 15:54:50.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C59178 Blood sample repository indicator BloodSampRepositoryInd Indicator whether the participant provided a blood sample to a repository Indicator whether the participant provided a blood sample to a repository Has the participant given a sample of blood to a repository? No;Yes No;Yes Alphanumeric

If YES, name the repository

Adult Supplemental-Highly Recommended 1.10 2024-02-29 15:54:11.0 Parkinson's Disease Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17893 Gene missense nonsense variant point mutation location other text GeneMsNsVrPntMutLocOtherTxt The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron Other 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

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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

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

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

CSV