CDE Detailed Report
Disease: Mitochondrial Disease
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Primary Mitochondrial Disease (PMD) Genetics
Displaying 101 - 114 of 114
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Primary Mitochondrial Disease (PMD) Genetics
Displaying 101 - 114 of 114
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C60255 | Diagnosis primary mitochondrial disease support sign status | DiagnosPrimryMitoDzSuprtSignStat | Status of the sign supportive of primary mitochondrial disease diagnosis | Status of the sign supportive of primary mitochondrial disease diagnosis | Signs Supportive of PMD Diagnosis | Absent;Present;N/A | Absent;Present;N/A | 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;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:59.0 | Primary Mitochondrial Disease (PMD) 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;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:08.0 | Primary Mitochondrial Disease (PMD) 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;Pediatric | Supplemental | 2.10 | 2024-02-29 15:54:02.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C59112 | Genetic study data general category type | GeneticStudyDataGeneralCatTyp | Type of general category data expected for the genetics study | Type of general category data expected for the genetics study | General | Images;Proteomic/Metabolomic;Supporting Documents;Individual Sequencing;Individual Genotype;Individual Phenotype;RNA seq;Transcriptomic | Images;Proteomic/Metabolomic;Supporting Documents;Individual Sequencing;Individual Genotype;Individual Phenotype;RNA seq;Transcriptomic | 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;Pediatric | Supplemental | 2.00 | 2024-02-29 15:54:26.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values 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;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:51.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C60266 | Genetic test methodology text | GentTestMethodTxt | The free-text field to specify the test methodology for genetic testing | The free-text field to specify the test methodology for genetic testing | Test Methodology | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Core | 1.00 | 2024-02-29 15:55:11.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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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 |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:57.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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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;Pediatric | Supplemental | 1.00 | 2022-07-28 11:41:09.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12804 | Gene cDNA variant mutation name | GeneCDNAVarMutName | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation | Name using the Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation | cDNA | Alphanumeric |
If relevant |
https://hgvs-nomenclature.org/stable/ | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:55:02.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C19603 | Genetic test nuclear DNA clinical evaluation type | GentTestNuclearDNAClinEvalTyp | Type of basis used for the evaluation of the clinical category of nuclear DNA genetic test | Type of basis used for the evaluation of the clinical category of nuclear DNA genetic test | Basis for the evaluation of the clinical category | Previously reported;Familial segregation;Prevision software (name the software);Experimental validation;Tissular segregation | Previously reported;Familial segregation;Prevision software (name the software);Experimental validation;Tissular segregation | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 2.00 | 2024-02-29 15:55:13.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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;Geneticist;Metabolic specialist;Self (results from Direct-to-Consumer test);Other, specify | Genetic counselor;Neurologist;Geneticist;Metabolic specialist;Self (results from Direct-to-Consumer test);Other, specify | Alphanumeric | Adult;Pediatric | Supplemental | 2.00 | 2024-03-18 15:21:17.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12228 | Tissue specimen name | TissSpecmnName | Tissue specimen name collected from the participant | Tissue specimen name collected from the participant | Type of tissue collected | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:16.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C60256 | Genetic test result participant inform source type other text | tGeneTestResltPartInfrmSrcOTH | The free-text field related to ' Genetic test result participant inform source type', specifying other text. Type of source that informed the participant of the genetic test results | The free-text field related to ' Genetic test result participant inform source type', specifying other text. Type of source that informed the participant of the genetic test results | Other, specify | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:54:04.0 | Primary Mitochondrial Disease (PMD) 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;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:09.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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