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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | Evaluation method | Restriction PCR;Deep sequencing;Allele specific PCR;qPCR (deletions, depletion);Southern blot;Other, specify | Restriction PCR;Deep sequencing;Allele specific PCR;qPCR (deletions, depletion);Southern blot;Other, specify | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 2.00 | 2024-02-29 15:55:05.0 | Primary Mitochondrial Disease (PMD) 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;Pediatric | Supplemental-Highly Recommended | 1.10 | 2024-02-29 15:54:54.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value 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 |
https://hgvs-nomenclature.org/stable/ | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:55:04.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59079 | DNA known variant description text | DNAKnownVariantDescriptionTxt | The free-text field describing the presence or absence of known variant(s) in participant's DNA | The free-text field describing the presence or absence of known variant(s) in participant's DNA | If present or absent, describe | 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;Pediatric | Supplemental | 1.10 | 2024-02-29 15:54:06.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
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;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:39.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60258 | Organ donation register indicator | OrgnDonationRegisterInd | Indicator of whether the participant has registered for organ donation | Indicator of whether the participant has registered for organ donation | Has the participant registered for organ donation? | No;Yes | No;Yes | Alphanumeric |
If YES, name the repository |
No references available | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:54:18.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17399 | Global unique identifier number | GlobalUniqueIdNum | Number representing the Global Unique ID (GUID) which uniquely identifies a participant | Number representing the Global Unique ID (GUID) which uniquely identifies a participant | GUID | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:17.0 | Primary Mitochondrial Disease (PMD) 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;Pediatric | Supplemental | 1.00 | 2022-07-28 10:16:12.0 | Primary Mitochondrial Disease (PMD) 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 |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:55.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60269 | Genetic test mitochondrial DNA clinical evaluation type | GentTestMtDNAClinEvalTyp | Type of basis used for the evaluation of the clinical category of mitochondrial DNA (mtDNA) genetic test | Type of basis used for the evaluation of the clinical category of mitochondrial DNA (mtDNA) 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 | 1.00 | 2024-02-29 15:55:16.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19590 | Genetic test mitochondrial DNA panel tissue type | GentTestMTDNAPanTisTyp | Type of tissue tested in the mtDNA panel test | Type of tissue tested in the mtDNA panel test | What tissue? | Blood;Muscle;Liver;Other, please specify;Saliva;Urine sediment;Buccal smear | Blood;Muscle;Liver;Other, please specify;Saliva;Urine sediment;Buccal smear | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 2.00 | 2024-02-29 15:54:43.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19607 | Genetic test mitochondrial DNA variant mutation quantitative analysis heteroplasmy level type | GenetcTestMDNAMQntAnHLTyp | Type of heteroplasmy level in quantitative analysis for mitochondrial DNA variant or mutation | Type of heteroplasmy level in quantitative analysis for mitochondrial DNA variant or mutation | Heteroplasmy level | Blood;Muscle;Urinary sediment;Buccal cells;Saliva;Other, specify | Blood;Muscle;Urinary sediment;Buccal cells;Saliva;Other, specify | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 2.00 | 2024-02-29 15:55:07.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C59174 | Genetic test result participant inform indicator | GeneTestRsltPatInfrmInd | Indicator of whether the participant was informed of the genetic test results | Indicator of whether the participant was informed of the genetic test results | Was the participant informed of the test results? | No;Yes | No;Yes | Alphanumeric |
If YES, indicate source of the information |
Adult;Pediatric | Supplemental | 1.10 | 2024-02-29 15:54:03.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value 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 |
If NO, Skip to question on Mitochondrial DNA variant |
Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:55:04.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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;Pediatric | Supplemental | 1.00 | 2022-07-27 21:57:47.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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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;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:36.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60259 | Organ donation repository name | OrgnDonationRepostoryNme | Name of repository to which the participant registered for organ donation | Name of repository to which the participant registered for organ donation | If YES, name of repository | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:54:20.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C17889 | Gene missense nonsense variant point mutation location exon text | GeneMsNsVrPointMutLocExonTxt | The free-text field about missense/nonsense variant or point mutation at the exon | The free-text field about missense/nonsense variant or point mutation at the exon | Exon (Point Variant) | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:58.0 | Primary Mitochondrial Disease (PMD) 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;Targeted Transcriptome;Epigenomic Marks;Sanger;16S rRNA;Whole Transcriptome | Whole Genome;Whole Exome;Targeted Genome;Targeted Exome;Targeted Transcriptome;Epigenomic Marks;Sanger;16S rRNA;Whole Transcriptome | 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 | 2024-03-18 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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| 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;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:55.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60270 | Genetic test mitochondrial DNA experimental validation type | GentTestMtDNAExpValTyp | Type of experimental validation used for the basis of the evaluation of mitochondrial DNA (mtDNA) genetic testing clinical category | Type of experimental validation used for the basis of the evaluation of mitochondrial DNA (mtDNA) genetic testing clinical category | Experimental Validation | Single muscle fiber;Transfer into cybrid cells | Single muscle fiber;Transfer into cybrid cells | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 1.00 | 2024-02-29 15:55:17.0 | Primary Mitochondrial Disease (PMD) 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;Saliva;Urine sediment;Buccal smear | Blood;Muscle;Liver;Other, please specify;Saliva;Urine sediment;Buccal smear | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 2.00 | 2024-02-29 15:54:45.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19609 | Genetic test sequence range | GentTestSeqRng | Range of area of coverage for genetic testing | Range of area of coverage for genetic testing | Region Tested: Coverage | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Core | 1.10 | 2024-02-29 15:55:11.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 100 |
Free-Form Entry |
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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;Pediatric | Supplemental | 1.10 | 2024-02-29 15:54:11.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:41.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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;Pediatric | Supplemental | 1.10 | 2024-02-29 15:54:10.0 | Primary Mitochondrial Disease (PMD) 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 |
No instructions available |
Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:37.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60260 | Family history relative tissue specimen name | FamHistRelTissSpecmnName | Name of tissue specimen collected from the participant's family member | Name of tissue specimen collected from the participant's family member | Type of tissue collected | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:54:22.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C17891 | Gene additional variants unknown significance text | GeneAddVarUnkSignfcnceTxt | The free-text field about additional variants in other genes of unknown significance | The free-text field about additional variants in other genes of unknown significance | If YES, indicate | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:40.0 | Primary Mitochondrial Disease (PMD) 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;Pediatric | Supplemental | 1.00 | 2022-07-28 11:24:29.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12797 | Gene targeted variant mutational analysis type | GeneTarVarMutAnlysisTyp | Type of targeted variant or mutational analysis performed for the gene | Type of targeted variant or mutational analysis performed for the gene | If YES, type of analysis | Hot-spot;Other, specify;Known familial variant | Hot-spot;Other, specify;Known familial variant | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:56.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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;Pediatric | Supplemental-Highly Recommended | 1.00 | 2014-12-30 17:00:40.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19610 | Genetic test result date | GentTestResltDat | The date of reporting of the genetic test results | The date of reporting of the genetic test results | Date report issued | Date or Date & Time | Adult;Pediatric | Supplemental-Highly Recommended | 1.00 | 2014-12-31 12:04:57.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C60250 | Diagnosis primary clinical mitochondrial disease type | DiagnosPrimryClinMitoDzTyp | Type of primary clinical mitochondrial disease diagnosis | Type of primary clinical mitochondrial disease diagnosis | Primary Clinical Diagnosis of Mitochondrial Disease | Chronic progressive external ophthalmoplegia (CPEO ''plus'');Chronic progressive external ophthalmoplegia (CPEO);Alpers syndrome;Cardiomyopathy;Maternally Inherited Diabetes and Deafness (MIDD);Kearns-Sayre syndrome (KSS);Leber hereditary optic neuropathy (LHON);Leigh syndrome;Maternal-inherited deafness;MELAS;MNGIE;Multi-systemic syndrome;MERRF;Myopathy;Neuropathy, ataxia and retinitis pigmentosa (NARP);Pearson syndrome;Reversible infantile myopathy with cytochrome c oxidase deficiency;Ataxia Neuropathy syndrome;Other POLG related disorders;Aminoglycoside-induced deafness;Barth syndrome;Encephalomyopathy;Hepatocerebral syndrome;Leukoencephalopathy;Encephalopathy;Other clinical syndrome/symptom, specify | Chronic progressive external ophthalmoplegia (CPEO ''plus'');Chronic progressive external ophthalmoplegia (CPEO);Alpers syndrome;Cardiomyopathy;Maternally Inherited Diabetes and Deafness (MIDD);Kearns-Sayre syndrome (KSS);Leber hereditary optic neuropathy (LHON);Leigh syndrome;Maternal-inherited deafness;MELAS;MNGIE;Multi-systemic syndrome;MERRF;Myopathy;Neuropathy, ataxia and retinitis pigmentosa (NARP);Pearson syndrome;Reversible infantile myopathy with cytochrome c oxidase deficiency;Ataxia Neuropathy syndrome;Other POLG related disorders;Aminoglycoside-induced deafness;Barth syndrome;Encephalomyopathy;Hepatocerebral syndrome;Leukoencephalopathy;Encephalopathy;Other clinical syndrome/symptom, specify | Alphanumeric |
Choose 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;Pediatric | Core | 1.00 | 2024-02-29 15:53:47.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12818 | Gene second allele identical indicator | GeneSecondAlleleIdenticalInd | Indicator of whether allele #2 is identical to allele #1 | Indicator of whether allele #2 is identical to allele #1 | Is allele #2 identical to allele #1 | Yes;No | Yes;No | Alphanumeric |
Homozygous only |
Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:55:05.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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;Pediatric | Supplemental | 1.00 | 2022-07-27 22:08:47.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12785 | Gene variant mutation detected result type | GeneVarMutDetectedResltTyp | Type of gene variant or mutation detected | Type of gene variant or mutation detected | Variant(s) detected | Compound Heterozygous;No pathogenic variant detected;Heterozygous;Digenic (variants in more than one gene);Homozygous;Hemizygous | Compound Heterozygous;No pathogenic variant detected;Heterozygous;Digenic (variants in more than one gene);Homozygous;Hemizygous | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:39.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C60261 | Family history relative global unique identifier number | FamHistRelGUIDNum | Number representing the Global Unique ID (GUID) of the participant's family member | Number representing the Global Unique ID (GUID) of the participant's family member | GUID | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:54:23.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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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, specify | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:59.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59161 | Genotype platform name | GenotypePlatformName | Name of the genotype platform | Name of the genotype platform | Name and version | Alphanumeric | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-28 11:29:59.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12798 | Gene missense nonsense variant point mutation location type | GeneMsNsVrPointMutLocTyp | Type of location of the missense/nonsense variant or point mutation | Type of location of the missense/nonsense variant or point mutation | Missense/nonsense variant location | Intron;Exon (Point Variant);Other, specify | Intron;Exon (Point Variant);Other, specify | Alphanumeric |
Choose one |
Adult;Pediatric | Supplemental-Highly Recommended | 4.00 | 2024-02-29 15:54:57.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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;Pediatric | Core | 1.10 | 2024-02-29 15:54:44.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 50 |
Free-Form Entry |
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| C19611 | References text | ReferenceTxt | The free-text field list of references | The free-text field list of references | References | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Core | 1.10 | 2024-02-29 15:55:13.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60251 | Diagnosis primary clinical mitochondrial disease type other text | DiagnosPrimryClinMitoDzOTH | The free-text field related to 'Diagnosis primary clinical mitochondrial disease type', specifying other text. Type of primary clinical mitochondrial disease diagnosis | The free-text field related to 'Diagnosis primary clinical mitochondrial disease type', specifying other text. Type of primary clinical mitochondrial disease diagnosis | Other clinical syndrome/symptom, 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;Pediatric | Core | 1.00 | 2024-02-29 15:53:56.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12944 | Variant mutational analysis performed indicator | VarMutAnlysisPerfInd | Indicator of whether the variant or mutational analysis was performed on the participant | Indicator of whether the variant or mutational analysis was performed on the participant | Variant analysis performed on the participant | Yes;No | Yes;No | Alphanumeric |
If NO, answer additional questions |
Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:37.0 | Primary Mitochondrial Disease (PMD) 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;Case set;Other, specify | Control set;Longitudinal;Case-control;Parent-offspring trios;Cohort;Clinical trial;Case set;Other, 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 | 1.00 | 2022-07-27 22:11:02.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12786 | Allele identifier name | AlleleID | Name that identifies which allele the associated data describe | Name that identifies which allele the associated data describe | Allele specific information | Allele #1;Allele #2 | Allele #1;Allele #2 | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 4.00 | 2024-02-29 15:54:47.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60262 | Genetic study data sample category type other text | GentcStdyDataSampleCatTypOTH | The free-text field related to 'Genetic study data sample category type', specifying other text. Type of tissue studied | The free-text field related to 'Genetic study data sample category type', specifying other text. Type of tissue studied | Other tissue, specify | Alphanumeric |
No instructions available |
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 | 2024-02-29 15:54:28.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
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;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:59.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59163 | Genotype platform version text | GenotypePlatformVersionTxt | The free-text field to specify the genotype platform version | The free-text field to specify the genotype platform version | Name and version | Alphanumeric |
No instructions available |
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 11:32:32.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
