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CDE Detailed Report
This report contains detailed information about the selected CDEs.
Note: If at least one CDE was selected from a copyright- or trademark-protected instrument/scale then all of the CDEs from that instrument/scale are included in this report.
Disease: Mitochondrial Disease
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Genetics Testing Clinical Diagnostics
Item count: 19 (19 distinct CDEs)
CDE ID
CDE Name
Variable Name
Definition / Description
Question Text
Permissible Value
Description
Data Type
Instructions
References
Population
Classification (e.g., Core)
Version #
Version Date
Aliases for Variable Name
CRF Module / Guideline
© or TM
Sub-Domain
Domain
Previous Title
Size
Input Restrictions
Min Value
Max Value
Measurement Type
LOINC ID
SNOMED
caDSR ID
CDISC ID
C15520
Genetic testing performed indicator
GenTestPerfInd
Indicator whether the subject participated in genetic testing.
Was genetic testing performed?
Yes;No;
Yes;No;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
Genetics Testing Clinical Diagnostics
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Genetic testing performed indicator
 
Single Pre-Defined Value Selected
       
C19584
Genetic test performed year value
GenetTestPerformYearVal
Value of the year the genetic test was performed
What year was the genetic testing performed?
  
Numeric Values
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/29/2014
Aliases for variable name not defined
Genetics Testing Clinical Diagnostics
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Free-Form Entry
       
C19615
Genetic test name
GentTestNam
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
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/31/2014
Aliases for variable name not defined
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.
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
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/29/2014
Aliases for variable name not defined
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.
What Tissue?
Blood;Other, please specify;
Blood;Other, please specify;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
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.
Other, please specify
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
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
What genes?
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
2/18/2015
Aliases for variable name not defined
Genetics Testing Clinical Diagnostics
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Free-Form Entry
       
C19587
Genetic test single gene deletion analysis tissue type
GentTestSingGenDelAnaTisTyp
Type of tissue tested in the single gene(s) deletion analysis.
What Tissue?
Blood;Other, please specify;
Blood;Other, please specify;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
Genetics Testing Clinical Diagnostics
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C19588
Genetic test whole exome sequence analysis tissue type
GentTestWholExoSeqAnalTisTyp
Type of tissue tested in the whole exome sequence analysis test.
What Tissue?
Blood;Other, please specify;
Blood;Other, please specify;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
Genetics Testing Clinical Diagnostics
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C19589
Genetic test whole genome sequence analysis tissue type
GentTestWholGenSeqAnalTissTyp
Type of tissue tested in the whole genome sequence analysis test.
What Tissue?
Blood;Other, please specify;
Blood;Other, please specify;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
Genetics Testing Clinical Diagnostics
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.
What Tissue?
Blood;Muscle;Liver;Other, please specify;
Blood;Muscle;Liver;Other, please specify;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
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.
What Tissue?
Blood;Muscle;Liver;Other, please specify;
Blood;Muscle;Liver;Other, please specify;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
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.
Comments
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/16/2013
Aliases for variable name not defined
Genetics Testing Clinical Diagnostics
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
4000
Free-Form Entry
       
C19592
Genetic test mitochondrial DNA genome deletion duplication analysis tissue type
GentTestMTDNAGenDelDupAnTisTyp
Type of tissue tested in the mtDNA genome deletion/duplication analysis test.
What Tissue?
Blood;Amnio;Skin;Other;
Blood;Amnio;Skin;Other;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
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.
What Tissue?
Blood;Muscle;Liver;Other, please specify;
Blood;Muscle;Liver;Other, please specify;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
Genetics Testing Clinical Diagnostics
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C19594
Genetic test microarray tissue type
GentTestMicroarrayTisTyp
Type of tissue tested in the microarray test for genetics.
What Tissue?
Blood;Amnio;Skin;Other;
Blood;Amnio;Skin;Other;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
Genetics Testing Clinical Diagnostics
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C19595
Genetic test karyotype tissue type
GenetTestKaryotypeTisTyp
Type of tissue tested in the karyotype test.
What Tissue?
Blood;Amnio;Skin;Other;
Blood;Amnio;Skin;Other;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
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.
What Tissue?
Blood;Amnio;Skin;Other;
Blood;Amnio;Skin;Other;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
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.
What Tissue?
Blood;Other, please specify;
Blood;Other, please specify;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
Genetics Testing Clinical Diagnostics
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
07-15-2019
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