CDE Detailed Report
Disease: system
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: files
Displaying 1 - 50 of 110
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: files
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C10844 | Gene type | GeneTyp | The type of gene screened in the participant/subject for the disease or disorder | The common genes screened in the participant/subject for the disease or disorder | Gene (Test) | SNCA;LRRK2;GBA;PRKN;PINK1;DJ1;VPS35;CHCHD2;Other, specify | SNCA;LRRK2;GBA;PRKN;PINK1;DJ1;VPS35;CHCHD2;Other, specify | Alphanumeric | Adult | Supplemental | 3.00 | 2013-07-22 16:57:17.79 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C59167 | Genotype platform description text | GenotypePlatformDescriptionTxt | The free-text field describing the genotype platform | The free-text field describing the genotype platform | Description | Alphanumeric |
Optional |
Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult | Supplemental | 1.00 | 2022-07-28 11:41:09.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| 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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| C12789 | Gene deletions duplications limits clearly defined indicator | GeneDelDupLimClearlyDefInd | Indicator of whether the limits of deletions and duplications are defined | Indicator of whether the limits of deletions and duplications are defined | Are the limits of the copy number completely defined? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | Adult | Supplemental | 3.10 | 2024-02-29 15:54:50.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C59178 | Blood sample repository indicator | BloodSampRepositoryInd | Indicator whether the participant provided a blood sample to a repository | Indicator whether the participant provided a blood sample to a repository | Has the participant given a sample of blood to a repository? | No;Yes | No;Yes | Alphanumeric |
If YES, name the repository |
Adult | Supplemental-Highly Recommended | 1.10 | 2024-02-29 15:54:11.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17893 | Gene missense nonsense variant point mutation location other text | GeneMsNsVrPntMutLocOtherTxt | The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron | The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron | Other | Alphanumeric | Adult | Supplemental | 3.20 | 2024-02-29 15:54:59.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59080 | Biological sample in repository specimen type other text | BioSampInReposSpecmnTypOTH | The free-text field related to 'Biological sample in repository specimen type', specifying other text. Type of biological sample or specimen collected and stored in a repository | The free-text field related to 'Biological sample in repository specimen type', specifying other text. Type of biological sample or specimen collected and stored in a repository | Other, specify | Alphanumeric | Adult | Supplemental-Highly Recommended | 1.00 | 2022-07-27 21:57:47.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C59114 | Genetic study data sample category type | GeneticStudyDataSampleCatTyp | Type of sample category data expected for the genetics study | Type of sample category data expected for the genetics study | Sample Types | Microbiome;Mitochondria;RNA;DNA;Tumor/Normal;Germline;From Repository | Microbiome;Mitochondria;RNA;DNA;Tumor/Normal;Germline;From Repository | Alphanumeric |
Choose all that apply |
Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult | Supplemental | 2.00 | 2024-02-29 15:54:27.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12803 | Gene variant mutation implications confirmed mRNA analysis indicator | GeneVrrMutImpConMRNAAnlyssInd | Indicator of whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis | Indicator of whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis | If YES, were implications confirmed | Yes;No | Yes;No | Alphanumeric | Adult | Supplemental | 3.20 | 2024-02-29 15:55:02.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19592 | Genetic test mitochondrial DNA genome deletion duplication analysis tissue type | GentTestMTDNAGenDelDupAnTisTyp | Type of tissue tested in the mtDNA genome deletion/duplication analysis test | Type of tissue tested in the mtDNA genome deletion/duplication analysis test | What tissue? | Blood;Muscle;Liver;Other, please specify | Blood;Muscle;Liver;Other, please specify | Alphanumeric | Adult | Supplemental | 2.00 | 2024-02-29 15:54:45.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C10845 | Gene screened indicator | GeneScrndInd | Indicator whether the participant/subject was screened for the specific gene mutation (e.g., Superoxide dismutase 1, Fused in sarcoma, TAR DNA binding protein) commonly seen in the disease or disorder | Indicator whether the participant/subject was screened for the specific gene mutation (e.g., Superoxide dismutase 1, Fused in sarcoma, TAR DNA binding protein) commonly seen in the disease or disorder | Test performed? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | Adult | Supplemental | 3.10 | 2022-07-27 16:51:04.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C59168 | Gene whole affect exon deleted duplicated indicator | GeneWhlAffctExonDelDupInd | Indicator of whether the whole gene was affected by exonic deletions/duplications | Indicator of whether the whole gene was affected by exonic deletions/duplications | Whole gene affected? | No;Yes;Unknown | No;Yes;Unknown | Alphanumeric | Adult | Supplemental | 1.10 | 2024-02-29 15:54:52.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C15549 | Gene amino acid change name | GeneAminacidChngName | In cases of an genetic variant or mutation, specify the amino acid change | In cases of an genetic variant or mutation, specify the amino acid change | Amino acid change | Alphanumeric | Adult | Supplemental | 3.00 | 2013-07-16 14:01:43.01 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C56038 | Genetic test performed other text | GeneTestPerfrmedOthrTxt | The free-text field specifying the other genetic test that was performed | The free-text field specifying the other genetic test that was performe | Other, specify | Alphanumeric | Adult | Supplemental | 1.10 | 2022-07-27 16:49:12.0 | Parkinson's Disease Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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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| 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 |
