CDE Detailed Report
Disease: Parkinson's Disease
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Parkinson's Disease Genetics
Displaying 1 - 50 of 110
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
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| 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 |
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| 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 |
Free-Form Entry |
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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 |
Free-Form Entry |
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| 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 |
Free-Form Entry |
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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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
Free-Form Entry |
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| 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 |
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| 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 |
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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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
Free-Form Entry |
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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 |
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| 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 |
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| 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 |
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| 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 |
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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 |
Free-Form Entry |
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| 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 |
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| 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 |
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| 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 |
Free-Form Entry |
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| 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 |
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| 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 |
Free-Form Entry |
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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 |
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| 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 |
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| 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 |
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| 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 |
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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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
