CDE Detailed Report
Disease: Mitochondrial Disease
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Primary Mitochondrial Disease (PMD) Genetics
Displaying 1 - 50 of 114
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Primary Mitochondrial Disease (PMD) Genetics
Displaying 1 - 50 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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;Pediatric | Supplemental | 1.00 | 2022-07-28 09:27:55.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12787 | Gene variant mutation category | GeneVarMutationCat | Category of the variant or mutation detected on the gene | Category of the variant or mutation detected on the gene | Variant Class | Missense;Nonsense;Pseudoexon;Splice;Subexonic Insertion/Deletion;Other, specify;Reduced Number of Copies;Increased Number of Copies;Potential (variant of unknown significance) | Missense;Nonsense;Pseudoexon;Splice;Subexonic Insertion/Deletion;Other, specify;Reduced Number of Copies;Increased Number of Copies;Potential (variant of unknown significance) | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:48.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C60263 | Genetic test mitochondrial DNA variant mutation quantitative analysis evaluation method type other text | GeneTestMDNAVrMutQntAnEMOTH | The free-text field related to 'Genetic test mitochondrial DNA variant or mutation quantitative analysis evaluation method type', specifying other text. Type of evaluation method for quantitative analyses | The free-text field related to 'Genetic test mitochondrial DNA variant or mutation quantitative analysis evaluation method type', specifying other text. Type of evaluation method for quantitative analyses | Other, specify | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 1.00 | 2024-02-29 15:55:06.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
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 |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:42.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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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;Pediatric | Supplemental-Highly Recommended | 1.00 | 2014-12-31 09:28:06.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59164 | Genotype platform vendor text | GenotypePlatformVendorTxt | The free-text field to specify the genotype platform vendor | The free-text field to specify the genotype platform vendor | Vendor | Alphanumeric | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-28 11:34:08.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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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;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:55:00.0 | Primary Mitochondrial Disease (PMD) 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;Pediatric | Supplemental-Highly Recommended | 1.00 | 2014-12-31 13:16:05.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C08001 | Family history relative type biological sample in repository indicator | FmlyHistRelTypBioSampleRepInd | Indicator of whether the participant's family member has donated biological sample(s) to a repository | Indicator of whether the participant's family member has donated biological sample(s) to a repository | Is a sample available from a family member? | Yes;No | Yes;No | Alphanumeric |
If YES, answer the questions on the sample donation details |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:21.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60253 | Diagnosis primary mitochondrial disease support sign type | DiagnosPrimryMitoDzSuprtSignTyp | Type of sign supportive of primary mitochondrial disease diagnosis | Type of sign supportive of primary mitochondrial disease diagnosis | Signs Supportive of PMD Diagnosis | Bilateral basal ganglia lesions;Lactate peak on MRI;Elevated tissue lactate;Metabolic stroke;Elevated blood alanine;Elevated GDF-15;Elevated CPK;Elevated tissue ragged-red fibers;Tissue COX deficient stain;Tissue SDH positive stain;Abnormal mitochondria in electron microscope;Abnormal OXPHOS function;Other, specify | Bilateral basal ganglia lesions;Lactate peak on MRI;Elevated tissue lactate;Metabolic stroke;Elevated blood alanine;Elevated GDF-15;Elevated CPK;Elevated tissue ragged-red fibers;Tissue COX deficient stain;Tissue SDH positive stain;Abnormal mitochondria in electron microscope;Abnormal OXPHOS function;Other, specify | Alphanumeric |
No instructions available |
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;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:58.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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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;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:06.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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;Pediatric | Supplemental | 1.00 | 2022-07-28 09:35:48.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12788 | Gene exon copy number tested indicator | GeneExonCopyNumTestInd | Indicator of whether the copy number was directly tested for all exons | Indicator of whether the copy number was directly tested for all exons | Was the copy number directly tested for all exons? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:49.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60264 | Genetic test mitochondrial DNA variant mutation quantitative analysis heteroplasmy level type other text | GeneTestMDNAMQntAnHLOTH | The free-text field related to 'Genetic test mitochondrial DNA variant or mutation quantitative analysis heteroplasmy level type', specifying other text. Type of heteroplasmy level for quantitative analyses | The free-text field related to 'Genetic test mitochondrial DNA variant or mutation quantitative analysis heteroplasmy level type', specifying other text. Type of heteroplasmy level for quantitative analyses | Other, specify | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 1.00 | 2024-02-29 15:55:08.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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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;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:38.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C19601 | Genetic test tissue type | GentTestTisTyp | Type of tissue tested | Type of tissue tested | Tissue | Blood;Amniocytes;Skin;Urine;Muscle;Buccal;Other, specify | Blood;Amniocytes;Skin;Urine;Muscle;Buccal;Other, specify | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Core | 2.00 | 2024-02-29 15:55:10.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C59165 | Genotype platform probe count | GenotypePlatformProbeCt | Count of probes for the genotype platform | Count of probes for the genotype platform | # Probes | Numeric Values | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-28 11:36:21.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C12802 | Gene variant mutation mRNA analysis performed indicator | GeneVarMutMRNAAnlysisPerfInd | Indicator of whether messenger ribonucleic acid (mRNA) analysis was performed | Indicator of whether messenger ribonucleic acid (mRNA) analysis was performed | mRNA analysis performed | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
If YES, were implications confirmed |
Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:55:01.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C56033 | Genetic test result source type | GeneTestResltSourceTyp | Type of source of the participant's genetic test results | Type of source of the participant's genetic test results | Indicate the source(s) of the genetic test results | Neurologist;Genetic counselor;Medical records;Other, specify;Geneticist;Other general practitioner;Other specialty physician | Neurologist;Genetic counselor;Medical records;Other, specify;Geneticist;Other general practitioner;Other specialty physician | Alphanumeric |
Choose all that apply |
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 |
Multiple Pre-Defined Values Selected |
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| C08002 | Family history relative type biological sample identifier number | FamHistReltvTypBioSampIDNum | Identification (ID) number assigned to family member's biological sample in repository | Identification (ID) number assigned to family member's biological sample in repository | Sample ID | Alphanumeric | Adult;Pediatric | Supplemental | 3.00 | 2013-07-22 16:57:17.79 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C60254 | Diagnosis primary mitochondrial disease support sign type other text | DiagnosPrimryMitoDzSuprtSignOTH | The free-text field related to 'Diagnosis mitochondrial disease PMD support sign type', specifying other text. Type of sign supportive of primary mitochondrial disease diagnosis | The free-text field related to 'Diagnosis mitochondrial disease PMD support sign type', specifying other text. Type of sign supportive of primary mitochondrial disease diagnosis | Other, specify | Alphanumeric |
No instructions available |
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;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:59.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
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;Other, specify;Urine sediment;Blood Draw;Buccal smear (cheek swab);Muscle tissue | Saliva;Other, specify;Urine sediment;Blood Draw;Buccal smear (cheek swab);Muscle tissue | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 4.00 | 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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| 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;Pediatric | Supplemental | 1.00 | 2022-07-28 09:38:52.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12789 | Gene deletions duplications limits clearly defined indicator | GeneDelDupLimClearlyDefInd | Indicator of whether the limits of deletions and duplications are defined | Indicator of whether the limits of deletions and duplications are defined | Are the limits of the copy number completely defined? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:50.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60265 | DNA type | DNATyp | Type of DNA | Type of DNA | Genetic Testing Results | Nuclear DNA;mtDNA | Nuclear DNA;mtDNA | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Core | 1.00 | 2024-02-29 15:55:09.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values 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;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:49.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C19602 | Genetic test mutation clinical category | GentTestMutClinCat | The category for the type of mutation in clinical setting | The category for the type of mutation in clinical setting | Clinical Category | Definitely pathogenic;Likely pathogenic;Variant of uncertain significance;Likely benign;Definitely benign | Definitely pathogenic;Likely pathogenic;Variant of uncertain significance;Likely benign;Definitely benign | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Core | 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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| C59166 | Genotype platform URL text | GenotypePlatformURLTxt | The free-text field specifying the genotype platform URL (uniform resource locator) | The free-text field specifying the genotype platform URL (uniform resource locator) | URL | Alphanumeric | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-28 11:39:08.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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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;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 |
Single Pre-Defined Value Selected |
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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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| C10500 | Symptom onset age value | SymptomOnsetAgeVal | Age when symptoms first experienced | Age when symptoms first experienced | Age at symptom onset | Numeric Values |
No instructions available |
Question and permissible values from Coriell Institute for Medical Research used and modified with permission.<br />https://www.coriell.org/1/About-Us/Legal-Notice | Adult;Pediatric | Core | 3.00 | 2013-07-25 08:54:08.2 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| 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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| 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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| 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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| 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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| 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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| 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 | Name of repository | Alphanumeric | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:11.0 | Primary Mitochondrial Disease (PMD) 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;Other tissue, specify | Microbiome;Mitochondria;RNA;DNA;Tumor/Normal;Germline;From Repository;Other tissue, specify | 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 15:54:27.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values 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;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:52.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C60267 | Genetic test prevision software name | GenTestPrevisionSoftName | Name of the prevision software used in genetic testing | Name of the prevision software used in genetic testing | Prevision software | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 1.00 | 2024-02-29 15:55:14.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C19604 | Genetic test nuclear DNA experimental validation type | GentTestNuclearDNAExpValTyp | Type of experimental validation used for the basis of the evaluation of nuclear DNA genetic testing clinical category | Type of experimental validation used for the basis of the evaluation of nuclear DNA genetic testing clinical category | Experimental Validation | Functional complementation in cultured cells;Other, specify | Functional complementation in cultured cells;Other, specify | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 2.00 | 2024-02-29 15:55:15.0 | Primary Mitochondrial Disease (PMD) 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 |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 1.10 | 2024-02-29 15:54:52.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
