CDE Detailed Report
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: files
Displaying 51 - 100 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 |
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C12797 | Gene targeted variant mutational analysis type | GeneTarVarMutAnlysisTyp | Type of targeted variant or mutational analysis performed for the gene | Type of targeted variant or mutational analysis performed for the gene | If YES, type of analysis | Hot-spot;Other, specify;Known familial variant | Hot-spot;Other, specify;Known familial variant | Alphanumeric | Adult | Supplemental | 3.20 | 2024-02-29 15:54:56.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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C18875 | Gene targeted variant mutational analysis other text | GeneTarVarMutAnlysisOTH | The free-text field related to 'Gene targeted variant or mutational analysis type', specifying other text. Type of targeted variant or mutational analysis performed for the gene | The free-text field related to 'Gene targeted variant or mutational analysis type', specifying other text. Type of targeted variant or mutational analysis performed for the gene | Other, specify | Alphanumeric | Adult | Supplemental | 3.20 | 2024-02-29 15:54:57.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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C59093 | Database of Genotypes and Phenotypes phenotype study accession number text | DbGapPhsAcesionsnNumTxt | The free-text field to specify the study phenotype study (phs) accession number for the database of Genotypes and Phenotypes (dbGaP) study | The free-text field to specify the study phenotype study (phs) accession number for the database of Genotypes and Phenotypes (dbGaP) study | If YES, please provide the phs accession number and/or title of the study | Alphanumeric | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult | Supplemental | 1.00 | 2022-07-28 09:30:27.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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C59163 | Genotype platform version text | GenotypePlatformVersionTxt | The free-text field to specify the genotype platform version | The free-text field to specify the genotype platform version | Name and version | Alphanumeric | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult | Supplemental | 1.00 | 2022-07-28 11:32:32.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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C12818 | Gene second allele identical indicator | GeneSecondAlleleIdenticalInd | Indicator of whether allele #2 is identical to allele #1 | Indicator of whether allele #2 is identical to allele #1 | Is allele #2 identical to allele #1 | Yes;No | Yes;No | Alphanumeric |
Homozygous only If NO, repeat filling out allele specific information for Allele #2" |
Adult | Supplemental | 3.10 | 2024-02-29 15:55:05.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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C19607 | Genetic test mitochondrial DNA variant mutation quantitative analysis heteroplasmy level type | GenetcTestMDNAMQntAnHLTyp | Type of heteroplasmy level in quantitative analysis for mitochondrial DNA variant or mutation | Type of heteroplasmy level in quantitative analysis for mitochondrial DNA variant or mutation | Quantitative analyses (Heteroplasmy assessment) Heteroplasmy level | Blood;Muscle;Urinary sediment;Buccal cells;Other | Blood;Muscle;Urinary sediment;Buccal cells;Other | Alphanumeric | Adult | Supplemental | 2.00 | 2024-02-29 15:55:07.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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C12785 | Gene variant mutation detected result type | GeneVarMutDetectedResltTyp | Type of gene variant or mutation detected | Type of gene variant or mutation detected | Variant(s) detected | Compound Heterozygous;No pathogenic variant detected;Heterozygous;Digenic (variants in more than one gene);Homozygous;Hemizygous | Compound Heterozygous;No pathogenic variant detected;Heterozygous;Digenic (variants in more than one gene);Homozygous;Hemizygous | Alphanumeric | Adult | Supplemental | 3.10 | 2024-02-29 15:54:39.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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C59174 | Genetic test result participant inform indicator | GeneTestRsltPatInfrmInd | Indicator of whether the participant was informed of the genetic test results | Indicator of whether the participant was informed of the genetic test results | Was the patient informed of the test results? | No;Yes | No;Yes | Alphanumeric |
If YES, indicate source of the information |
Adult | Supplemental-Highly Recommended | 1.10 | 2024-02-29 15:54:03.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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C16198 | Biological sample in repository consent form signed indicator | BioSampInReposConsentFmSignInd | Indicates whether the participant provided signed informed consent for the biological sample collection and storage in a repository | Indicates whether the participant provided signed informed consent for the biological sample collection and storage in a repository | Did the participant sign a consent form at the time the sample was taken? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | Adult | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:09.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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C59076 | Response anti parkinsonism therapy status | RespnsAntiParknsmTherapyStat | Status of the participant's/subject's response to anti-parkinsonism therapy | Status of the participant's/subject's response to anti-parkinsonism therapy | Response to anti-parkinsonism therapy | Tested and unresponsive;Inadequate dose;Not tried/not given;Tried and responsive | Tested and unresponsive;Inadequate dose;Not tried/not given;Tried and responsive | Alphanumeric | Question and permissible values from Coriell Institute for Medical Research used and modified with permission.<br />https://www.coriell.org/1/About-Us/Legal-Notice | Adult | Supplemental-Highly Recommended | 1.00 | 2022-07-27 21:31:16.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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 |
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C19014 | Gene detection method type other text | GeneDetectMethdTypOTH | The free-text field related to 'Gene detection method type' specifying other text. The method used to detect the gene mutation or variant | The free-text field related to 'Gene detection method type' specifying other text. The method used to detect the gene mutation or varian | Other, Specify | Alphanumeric | Adult | Supplemental | 3.10 | 2022-07-27 17:00:11.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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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 |
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C59164 | Genotype platform vendor text | GenotypePlatformVendorTxt | The free-text field to specify the genotype platform vendor | The free-text field to specify the genotype platform vendor | Vendor | Alphanumeric | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult | Supplemental | 1.00 | 2022-07-28 11:34:08.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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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 |
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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 |
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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 |
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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 |
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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 |
Free-Form Entry |
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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 |
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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 |
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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 |
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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 |
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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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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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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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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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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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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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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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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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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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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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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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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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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 |