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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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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| 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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| 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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| 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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| 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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| 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 |
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| C19598 | Genetic test tissue other text | GentTestTisOTH | The free-text field to specify the type of tissue tested for genetic test | The free-text field to specify the type of tissue tested for genetic test | Other, please specify | Alphanumeric | Adult | Supplemental | 1.10 | 2024-02-29 15:54:44.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 50 |
Free-Form Entry |
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| C59119 | Genetic study data genotype category type | GeneticStudyDataGenotypeCatTyp | Type of genotype category data expected for the genetics study | Type of genotype category data expected for the genetics study | Genotypes | Array CGH CNVs;Somatic SNV (MAF);Genotype calls derived from Sequence;CNV calls derived from Sequencing;CNV calls from microarray;Array derived genotypes | Array CGH CNVs;Somatic SNV (MAF);Genotype calls derived from Sequence;CNV calls derived from Sequencing;CNV calls from microarray;Array derived genotypes | Alphanumeric |
Choose all that apply |
Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult | Supplemental | 1.00 | 2022-07-28 10:16:12.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12805 | Gene mRNA variant mutation name | GeneMRNAVarMutName | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation | mRNA | Alphanumeric |
If relevant |
http://varnomen.hgvs.org/ | Adult | Supplemental | 3.20 | 2024-02-29 15:55:03.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59060 | Diagnosis primary clinical parkinsonism type other text | DiagnosPrimryClinParknsmTypOTH | The free-text field related to 'Diagnosis primary clinical parkinsonism type', specifying other text. Type of primary clinical parkinsonism diagnosis | The free-text field related to 'Diagnosis primary clinical parkinsonism type', specifying other text. Type of primary clinical parkinsonism diagnosis | Other (specify) | Alphanumeric |
No instructions available |
Question and permissible values from Coriell Institute for Medical Research used and modified with permission.<br />https://www.coriell.org/1/About-Us/Legal-Notice | Adult | Supplemental-Highly Recommended | 1.00 | 2022-07-26 11:32:41.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12690 | Gene name | GeneName | Name of the gene analyzed | Name of the gene analyzed | Gene Name | Alphanumeric | Adult | Supplemental | 3.00 | 2013-07-24 11:38:01.2 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59170 | Gene variant name | GeneVarName | Name of the gene variant | Name of the gene variant | Name of variant(s) | Alphanumeric | Adult | Supplemental | 1.00 | 2022-07-28 11:56:46.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C16194 | Biological sample in repository indicator | BioSampInReposInd | Indicates whether participant had a biological sample or specimen drawn and banked in a repository | Indicates whether participant had a biological sample or specimen drawn and banked in a repository | Has the participant had a sample drawn for DNA banking? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
If YES, answer the questions on the sample details |
Adult | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:06.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17896 | Variant mutational analysis not performed reason | VarMutAnlysisNotPerfRsn | Reason for why the mutational analysis was not performed | Reason for why the mutational analysis was not performed | If NO, provide explanation | Alphanumeric | Adult | Supplemental | 3.20 | 2024-02-29 15:54:38.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59083 | Repository contact text | RepositoryContactText | The free-text field to specify the contact information for a biological sample repository | The free-text field to specify the contact information for a biological sample repository | Repository contact | Alphanumeric | Adult | Supplemental-Highly Recommended | 1.00 | 2022-07-27 22:08:47.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12793 | Gene exon predicted reading frame type | GeneExonPredReadFrameTyp | Type of predicted reading frame | Type of predicted reading frame | Predicted reading frame | IN;Out;Unknown | IN;Out;Unknown | Alphanumeric | Adult | Supplemental | 4.00 | 2024-03-18 15:21:17.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19599 | Gene text | GeneTxt | The free-text field to specify genes screened in the participant for the disease or disorder | The free-text field to specify genes screened in the participant for the disease or disorder | What genes? | Alphanumeric | Adult | Supplemental | 1.10 | 2024-02-29 15:54:45.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 1000 |
Free-Form Entry |
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| C59141 | Genetic study data sequencing category type | GeneticStudyDataSeqncngCatTyp | Type of sequencing category data expected for the genetics study | Type of sequencing category data expected for the genetics study | Sequencing | Whole Genome;Whole Exome;Targeted Genome;Targeted Exome;Whole Transciptome;Targeted Transcriptome;Epigenomic Marks;Sanger;16S rRNA | Whole Genome;Whole Exome;Targeted Genome;Targeted Exome;Whole Transciptome;Targeted Transcriptome;Epigenomic Marks;Sanger;16S rRNA | Alphanumeric |
Choose all that apply |
Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult | Supplemental | 2.00 | 2024-03-18 15:21:17.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12806 | Gene protein variant mutation name | GeneProteinVarMutName | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation | Protein | Alphanumeric |
If relevant |
http://varnomen.hgvs.org/ | Adult | Supplemental | 3.20 | 2024-02-29 15:55:04.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59061 | Diagnosis primary clinical parkinsonism status | DiagnosPrimryClinParknsmStat | Status of the primary clinical parkinsonism diagnosis | Status of the primary clinical parkinsonism diagnosis | Primary Clinical Diagnosis | Absent;Present | Absent;Present | Alphanumeric |
No instructions available |
Question and permissible values from Coriell Institute for Medical Research used and modified with permission.<br />https://www.coriell.org/1/About-Us/Legal-Notice | Adult | Supplemental-Highly Recommended | 1.00 | 2022-07-26 11:35:48.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12782 | Gene additional variants unknown significance indicator | GeneAddVarUnknownSignfcnceInd | Indicator of whether there are additional variants in other genes of unknown significance | Indicator of whether there are additional variants in other genes of unknown significance | Are there additional variants in other genes of unknown significance? | Yes;No | Yes;No | Alphanumeric |
If YES, indicate |
Adult | Supplemental | 3.10 | 2024-02-29 15:54:39.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C59171 | Gene copy number change name | GeneCopyNumChngName | In cases of an genetic variant or mutation, specify the copy number change | In cases of an genetic variant or mutation, specify the copy number change | Copy number change | Alphanumeric | Adult | Supplemental | 1.00 | 2022-07-28 11:58:14.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C16195 | Biological sample in repository specimen type | BioSampInReposSpecmnTyp | Type of biological sample or specimen collected and stored in a repository | Type of biological sample or specimen collected and stored in a repository | Specify the type of sample drawn | Saliva;Blood;Other, specify;Buccal smear | Saliva;Blood;Other, specify;Buccal smear | Alphanumeric | Adult | Supplemental-Highly Recommended | 4.00 | 2024-03-18 15:21:17.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C18027 | Comment text | CmmntTxt | Provide any additional information that pertains to the question | Provide any additional information that pertains to the question | Comments | Alphanumeric | Adult | Supplemental | 3.00 | 2013-07-16 14:01:43.01 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C59084 | Genetic study type | GeneticStudyTyp | Type of genetics study conducted | Type of genetics study conducted | Study type(s) | Control set;Longitudinal;Case-control;Parent-offspring trios;Cohort;Clinical trial;Other, specify;Case set | Control set;Longitudinal;Case-control;Parent-offspring trios;Cohort;Clinical trial;Other specify;Case set | Alphanumeric |
Choose all that apply |
Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult | Supplemental | 1.00 | 2022-07-27 22:11:02.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12795 | Gene coding region sequenced indicator | GeneCodingRegionSeqInd | Indicator of whether the entire coding region was sequenced for the allele of the gene for missense/nonsense variant or point mutations or pseudoexons | Indicator of whether the entire coding region was sequenced for the allele of the gene for missense/nonsense variant or point mutations or pseudoexons | Was the entire coding region sequenced | Yes;No | Yes;No | Alphanumeric | Adult | Supplemental | 3.20 | 2024-02-29 15:54:55.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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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| 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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| 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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| 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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| 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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| 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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| 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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| 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 |
