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
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
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
C12800 Gene missense nonsense variant point mutation insertion deletion type GeneMsNsVrPntMutInsertDelTyp Type of the insertion deletion of the missense/nonsense variant or point mutation Type of the insertion deletion of the missense/nonsense variant or point mutation Insertion Deletion Deletion;Insertion;Insertion/Deletion Deletion;Insertion;Insertion/Deletion Alphanumeric Adult;Pediatric Supplemental-Highly Recommended 3.20 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
C19599 Gene text GeneTxt The free-text field to specify genes screened in the participant for the disease or disorder The free-text field to specify genes screened in the participant for the disease or disorder What genes? Alphanumeric Adult;Pediatric Supplemental-Highly Recommended 1.10 2024-02-29 15:54:45.0 Primary Mitochondrial Disease (PMD) Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 1000

Free-Form Entry
C19614 DNA change text DNAChngTxt The free-text field listing DNA change The free-text field listing DNA change DNA change Alphanumeric

No instructions available

 No references available Adult;Pediatric Core 1.10 2024-02-29 15:55:09.0 Primary Mitochondrial Disease (PMD) Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry
C60252 Diagnosis primary clinical mitochondrial disease status DiagnosPrimryClinMitoDzStat Status of the primary clinical mitochondrial disease diagnosis Status of the primary clinical mitochondrial disease diagnosis Primary Clinical Diagnosis Absent;Present Absent;Present Alphanumeric

No instructions available

 Question and permissible values from Coriell Institute for Medical Research used and modified with permission.<br />https://www.coriell.org/1/About-Us/Legal-Notice Adult;Pediatric Core 1.00 2024-02-29 15:53:56.0 Primary Mitochondrial Disease (PMD) Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C15520 Genetic testing performed indicator GenTestPerfInd Indicator of whether the participant had genetic testing performed Indicator of whether the participant had genetic testing performed Was genetic testing performed? Yes;No Yes;No Alphanumeric

If YES, answer questions on testing details

 Adult;Pediatric Supplemental 3.10 2024-02-29 15:54:00.0 Primary Mitochondrial Disease (PMD) Genetics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
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
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
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
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
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
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
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
CSV