CDE Detailed Report
Disease: content
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: welcome
Displaying 1 - 50 of 110
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: welcome
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C59157 | Genetic study data analysis category type | GeneticStudyDataAnlysisCatTyp | Type of analysis category data expected for the genetics study | Type of analysis category data expected for the genetics study | Analysis | Bulk RNA Seq derived expression;Array-derived methylation;Array-derived expression;Association/Linkage results | Bulk RNA Seq derived expression;Array-derived methylation;Array-derived expression;Association/Linkage results | Alphanumeric |
Choose all that apply |
Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult | Supplemental | 1.00 | 2022-07-28 11:24:29.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12807 | Gene second disease allele indicator | GeneSecondDiseaseAlleleInd | Indicator of whether a second disease allele was identified | Indicator of whether a second disease allele was identified | Was a second disease allele identified? | Yes;No | Yes;No | Alphanumeric | Adult | Supplemental | 3.10 | 2024-02-29 15:55:04.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19600 | Genetic test diagnostic laboratory name | GentTestDiagLabNam | Name of diagnostic laboratory for genetic testing | Name of diagnostic laboratory for genetic testing | Lab name | Alphanumeric | Adult | Supplemental | 1.00 | 2014-12-31 09:28:06.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59074 | Diagnosis Parkinsons disease support sign type | DiagnosParknsnDzSuprtSignTyp | Type of sign supportive of Parkinsons disease diagnosis | Type of sign supportive of Parkinsons disease diagnosis | Signs Supportive of PD Diagnosis | Cardiac sympathetic denervation;REM-sleep behavior disorder;Asymmetric Onset;Bradykinesia;Resting Tremor;Postural Instability;Rigidity;Gait difficulties;Levo-dopa induced dyskinesia;Olfactory loss | Cardiac sympathetic denervation;REM-sleep behavior disorder;Asymmetric Onset;Bradykinesia;Resting Tremor;Postural Instability;Rigidity;Gait difficulties;Levo-dopa induced dyskinesia;Olfactory loss | Alphanumeric | Question and permissible values from Coriell Institute for Medical Research used and modified with permission. https://www.coriell.org/1/About-Us/Legal-Notice | Adult | Supplemental-Highly Recommended | 1.00 | 2022-07-27 21:02:34.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12783 | Variant mutational analysis results available indicator | VarMutAnlysisResltsAvailInd | Indicator of whether the variant or mutational analysis results are available on this participant | Indicator of whether the variant or mutational analysis results are available on this participant | Variant analysis results available on this participant | Yes;No | Yes;No | Alphanumeric |
IF NO, Stop completing form |
Adult | Supplemental | 3.20 | 2024-02-29 15:54:36.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C59172 | Gene pathogenic certainty status | GenePathCertStat | Status related to pathogenic certainty for the gene screened in the participant/subject | Status related to pathogenic certainty for the gene screened in the participant/subject | Pathogenic Certainty | Other, specify;Benign;Variant of unknown significance (VUS);Possibly pathogenic;Probably pathogenic;Definitely pathogenic | Other, specify;Benign;Variant of unknown significance (VUS);Possibly pathogenic;Probably pathogenic;Definitely pathogenic | Alphanumeric | Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. | Adult | Supplemental | 1.00 | 2022-07-28 12:00:05.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C16196 | Biological sample in repository study initially requested name | BioSampReposStdyInReqName | The name of the study for which the biological sample or specimen was initially taken | The name of the study for which the biological sample or specimen was initially taken | Specify the study for which the sample was initially taken | Alphanumeric | Adult | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:08.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59091 | Genetic study type other text | GeneticStudyTypOTH | The free-text field related to 'Genetic study type ', specifying other text. Type of genetics study conducted | The free-text field related to 'Genetic study type ', specifying other text. Type of genetics study conducted | Other, specify | Alphanumeric | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult | Supplemental | 1.00 | 2022-07-28 09:27:55.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12796 | Gene targeted variant mutational analysis indicator | GeneTargetedVarMutAnlysisInd | Indicator of whether variant or mutational analysis was targeted at a particular variant or mutation | Indicator of whether variant or mutational analysis was targeted at a particular variant or mutation | Targeted variant analysis only | Yes;No | Yes;No | Alphanumeric |
If YES, answer type of analysis |
Adult | Supplemental | 3.20 | 2024-02-29 15:54:55.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C18874 | Gene variant mutation category other text | GeneVarMutationCatOTH | The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene | The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene | Other, specify | Alphanumeric | Adult | Supplemental | 3.20 | 2024-02-29 15:54:49.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C59161 | Genotype platform name | GenotypePlatformName | Name of the genotype platform | Name of the genotype platform | 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 11:29:59.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12808 | Gene sequenced with no variant mutation indicator | GeneSeqNoVarMutationsInd | Indicator of whether there are additional genes sequenced with no variants or mutations detected | Indicator of whether there are additional genes sequenced with no variants or mutations detected | Are there additional genes sequenced with no variants detected? | Yes;No | Yes;No | Alphanumeric |
If YES, indicate |
Adult | Supplemental | 3.10 | 2024-02-29 15:54:41.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19605 | Genetic test mitochondrial DNA variant mutation quantitative analysis evaluation method type | GeneTestMDNAVrMutQntAnEMTyp | Type of evaluation method in quantitative analysis for mitochondrial DNA variant or mutation | Type of evaluation method in quantitative analysis for mitochondrial DNA variant or mutation | Quantitative analyses (Heteroplasmy assessment) Evaluation method | Restriction PCR;Deep sequencing;Allele specific PCR;qPCR (deletions, depletion);Southern blot;Other | Restriction PCR;Deep sequencing;Allele specific PCR;qPCR (deletions, depletion);Southern blot;Other | Alphanumeric | Adult | Supplemental | 2.00 | 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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| C59075 | Diagnosis Parkinsons disease support sign status | DiagnosParknsnDzSuprtSignStat | Status of the sign supportive of Parkinsons disease diagnosis | Status of the sign supportive of Parkinsons disease diagnosis | Signs Supportive of PD Diagnosis | Absent;Present;N/A | Absent;Present;N/A | 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 21:26:37.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12784 | Variant mutational analysis performed family member indicator | VarMutAnlysisPerfFamMembrInd | Indicator of whether the mutational analysis was performed on a family member | Indicator of whether the mutational analysis was performed on a family member | If NO, was variant analysis performed on a family member? | Yes;No | Yes;No | Alphanumeric |
If NO, provide explanation |
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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| C59173 | Gene pathogenic certainty status other text | GenePathCertStatOTH | The free-text field related to 'Gene pathogenic certainty status', specifying other text. Status related to pathogenic certainty for the gene screened in the participant/subject | The free-text field related to 'Gene pathogenic certainty status', specifying other text. Status related to pathogenic certainty for the gene screened in the participant/subject | Other, Specify | Alphanumeric | Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. | Adult | Supplemental | 1.00 | 2022-07-28 12:07:41.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C16197 | Biological sample in repository location name | BioSampInReposLocName | The location of the banked biological sample or specimen, if known | The location of the banked biological sample or specimen, if known | Specify where the sample is banked, if known | Alphanumeric | Adult | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:09.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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 |
