CDE Detailed Report

Disease: Mitochondrial Disease
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Genetics Testing Clinical Diagnostics

Displaying 1 - 19 of 19
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
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 Blood;Muscle;Liver;Other, please specify Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 16:44:53.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19591 Genetic test whole mitochondrial DNA genome sequence analysis tissue type GentTestWhlMTDNAGenSeqAnTisTyp Type of tissue tested in the whole mtDNA genome sequence analysis test. Type of tissue tested in the whole mtDNA genome sequence analysis test. What Tissue? Blood;Muscle;Liver;Other, please specify Blood;Muscle;Liver;Other, please specify Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 16:49:42.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

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;Amnio;Skin;Other Blood;Amnio;Skin;Other Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 16:53:02.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C15520 Genetic testing performed indicator GenTestPerfInd Indicator whether the subject participated in genetic testing. Indicator whether the subject participated in genetic testing. Was genetic testing performed? Yes;No Yes;No Alphanumeric Adult;Pediatric Supplemental 3.00 2013-07-16 14:01:43.01 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19593 Genetic test mitochondrial DNA content analysis tissue type GentMTDNAContAnTisTyp Type of tissue tested in the mtDNA content analysis test. Type of tissue tested in the mtDNA content analysis test. What Tissue? Blood;Muscle;Liver;Other, please specify Blood;Muscle;Liver;Other, please specify Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 16:57:37.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C18027 Comment text CmmntTxt Provide any additional information that pertains to the question. Provide any additional information that pertains to the question. Comments Alphanumeric Adult;Pediatric Supplemental 3.00 2013-07-16 14:01:43.01 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

C19594 Genetic test microarray tissue type GentTestMicroarrayTisTyp Type of tissue tested in the microarray test for genetics. Type of tissue tested in the microarray test for genetics. What Tissue? Blood;Amnio;Skin;Other Blood;Amnio;Skin;Other Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 16:59:28.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19584 Genetic test performed year value GenetTestPerformYearVal Value of the year the genetic test was performed Value of the year the genetic test was performed What year was the genetic testing performed? Numeric Values Adult;Pediatric Supplemental 1.00 2014-12-29 16:40:16.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

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 Blood;Amnio;Skin;Other Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 17:00:40.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

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 Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19596 Genetic test methylation analysis tissue type GentTestMethylAnaTisTyp Type of tissue tested in the methylated analysis test for genetics. Type of tissue tested in the methylated analysis test for genetics. What Tissue? Blood;Amnio;Skin;Other Blood;Amnio;Skin;Other Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 17:05:41.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19586 Genetic test single gene sequence analysis tissue type GentTestSingGenSeqAnaTisTyp Type of tissue tested in the single gene(s) sequence analysis test. Type of tissue tested in the single gene(s) sequence analysis test. What Tissue? Blood;Other, please specify Blood;Other, please specify Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 10:31:24.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19597 Genetic test trinucleotide repeat analysis tissue type GentTestTrinucRepTisTyp Type of tissue tested in the trinucleotide analysis test for genetics. Type of tissue tested in the trinucleotide analysis test for genetics. What Tissue? Blood;Other, please specify Blood;Other, please specify Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 17:07:58.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19587 Genetic test single gene deletion analysis tissue type GentTestSingGenDelAnaTisTyp Type of tissue tested in the single gene(s) deletion analysis. Type of tissue tested in the single gene(s) deletion analysis. What Tissue? Blood;Other, please specify Blood;Other, please specify Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 16:33:38.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

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, please specify Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 17:10:09.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 50

Free-Form Entry

C19588 Genetic test whole exome sequence analysis tissue type GentTestWholExoSeqAnalTisTyp Type of tissue tested in the whole exome sequence analysis test. Type of tissue tested in the whole exome sequence analysis test. What Tissue? Blood;Other, please specify Blood;Other, please specify Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 16:38:19.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19599 Gene text GeneTxt The free-text field to specify gene screened in the participant/subject for the disease or disorder The free-text field to specify gene screened in the participant/subject for the disease or disorder What genes? Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-18 00:00:00.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 1000

Free-Form Entry

C19589 Genetic test whole genome sequence analysis tissue type GentTestWholGenSeqAnalTissTyp Type of tissue tested in the whole genome sequence analysis test. Type of tissue tested in the whole genome sequence analysis test. What Tissue? Blood;Other, please specify Blood;Other, please specify Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-30 16:42:00.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C19615 Genetic test name GentTestNam The name of the genetic test used The name of the genetic test used Test name and or code Single gene(s) sequence analysis;Single gene(s) deletion analysis;Whole exome sequence (WES) analysis;Whole genome sequence analysis;mtDNA panel testing (common mutations);Whole mtDNa genome deletion/duplication analysis;mtDNA content analysis;Microarray;Karyotype;Methylation analysis;Trinucleotide repeat analysis Single gene(s) sequence analysis;Single gene(s) deletion analysis;Whole exome sequence (WES) analysis;Whole genome sequence analysis;mtDNA panel testing (common mutations);Whole mtDNa genome deletion/duplication analysis;mtDNA content analysis;Microarray;Karyotype;Methylation analysis;Trinucleotide repeat analysis Alphanumeric Adult;Pediatric Supplemental 1.00 2014-12-31 13:16:05.0 Genetics Testing Clinical Diagnostics Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

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