CDE Detailed Report

Disease: Mitochondrial Disease
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Genetics Testing Short Form

Displaying 1 - 15 of 15
CDE ID CDE Name Variable Name Definition Short Description Additional Notes (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 / Guideline) Sub Domain Name Domain Name Size Input Restrictions Min Value Max Value Measurement Type External Id Loinc External Id Snomed External Id caDSR External Id CDISC
C19603 Genetic test clinical evaluation type GentTestClinEvalTyp The type of basis for the evaluation of the clinical category of genetic test. The type of basis for the evaluation of the clinical category of genetic test. Basis for evaluation of the clinical category Previously reported;Familial segregation;Previous software (name the software);Experimental validation;Tissular segregation Previously reported;Familial segregation;Previous software (name the software);Experimental validation;Tissular segregation Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-31 10:07:16.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19604 Genetic test experimental validation type GentTestExpValTyp Type of experimental validation for the basis of the evaluation. Type of experimental validation for the basis of the evaluation. Experimental validation Functional complementation in cultured cells;Other Functional complementation in cultured cells;Other Alphanumeric Adult;Pediatric Exploratory 1.00 2014-12-31 10:21:33.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19605 Genetic test mitochondrial DNA mutation quantitative analysis evaluation method type GeneTestMitoDNAMutQntAnalEMTyp Type of evaluation method in quantitative analysis for mitochondrial DNA mutation Type of evaluation method in quantitative analysis for mitochondrial DNA mutation For mitochondrial DNA mutation: Quantitative analyses (heteroplasmy assessment); Evaluation method Restriction PCR;Deep sequencing;Allele specific PCR;qPCR (deletions, depletion);Southern blot;Other Restriction PCR;Deep sequencing;Allele specific PCR;qPCR (deletions, depletion);Southern blot;Other Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-31 10:40:04.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19607 Genetic test mitochondrial DNA mutation quantitative analysis heteroplasmy level type GenetcTestMitoDNAMutQntAnHLTyp Type of heteroplasmy level in quantitative analysis for mitochondrial DNA mutation Type of heteroplasmy level in quantitative analysis for mitochondrial DNA mutation For mitochondrial DNA mutation: Quantitative analyses (heteroplasmy assessment); Heteroplasmy level Blood;Muscle;Urinary sediment;Buccal cells;Other Blood;Muscle;Urinary sediment;Buccal cells;Other Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-31 10:40:04.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19609 Genetic test sequence range GentTestSeqRng Area of coverage for testing. Area of coverage for testing. Region Tested: Coverage Alphanumeric NC_012920 is the most commonly used reference sequence in GenBank's RefSeq database. Adult;Pediatric Supplemental 1.00 2014-12-31 11:42:38.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 100

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C12690 Gene name GeneName Name of the gene analyzed Name of the gene analyzed Gene Alphanumeric refer to HGNC (http://www.genenames.org/) for official name or look on pubmed Gene Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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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 1.00 2014-12-31 12:04:57.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C19585 Genetic test methodology type GentTestMethodTyp Type of genetic methodology used. Type of genetic methodology used. Test Methodology Other, specify;Fluorescent in situ hybridization;Next Generation Sequencing;Multiplex ligation-dependent probe amplification;Sanger;Restriction PCR;Wave-surveyor;Affy MitoChip version;Probe capture-Next Generation Sequencing;Long-range PCR;Southern blot;qPCRn;Unknown;Affymetrix;Agilent;Illumnia;Nimblegen;Proband;Trio Other, specify;Fluorescent in situ hybridization (FISH);Next Generation Sequencing (NGS);Multiplex ligation-dependent probe amplification (MLPA);Sanger;Restriction PCR;Wave-surveyor;Affy MitoChip version;Probe capture-NGS;Long-range PCR;Southern blot;qPCRn;Unknown;Affymetrix;Agilent;Illumnia;Nimblegen;Proband;Trio Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-29 16:49:08.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19611 References text ReferenceTxt List of references. List of references. List of references. Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-31 12:19:52.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C19598 Genetic test tissue other text GentTestTisOTH The free-text field to specify the type of tisue tested for genetic test. The free-text field to specify the type of tisue tested for genetic test. Other Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 17:10:09.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 50

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C19612 Genetic result type GentResltTyp Type of genetic results. Type of genetic results. Result Mutation Variant;Variant of uncertain significance;Unknown Mutation Variant;Variant of uncertain significance; Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-31 12:22:04.0 Genetics Testing Short Form 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. Diagnostic Lab Name Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-31 09:28:06.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C19614 DNA change text DNAChngTxt Text on DNA change Text on DNA change DNA change* Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-31 12:29:17.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C19601 Genetic test tissue type GentTestTisTyp Type of tissue tested. Type of tissue tested. Tissue Blood;Amniocytes;Skin;Other Blood;Amniocytes;Skin;Other Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-31 09:40:11.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

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;Benign Definitely pathogenic;Likely pathogenic;Variant of uncertain significance;Likely benign;Benign Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-31 09:46:53.0 Genetics Testing Short Form Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

CSV