CDE Detailed Report

Disease: Mitochondrial Disease
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
CSV