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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 Short Form
Item count: 15 (15 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
C19600
Genetic test diagnostic laboratory name
GentTestDiagLabNam
Name of diagnostic laboratory for genetic testing.
Diagnostic Lab Name
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/31/2014
Aliases for variable name not defined
Genetics Testing Short Form
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
255
Free-Form Entry
       
C19610
Genetic test result date
GentTestResltDat
The date of reporting of the genetic test results.
Date report issued
  
Date or Date & Time
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/31/2014
Aliases for variable name not defined
Genetics Testing Short Form
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Free-Form Entry
       
C12690
Gene name
GeneName
Name of the gene analyzed
Gene
  
Alphanumeric
No instructions available
refer to HGNC (http://www.genenames.org/) for official name or look on pubmed Gene
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Genetics Testing Short Form
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene name
255
Free-Form Entry
       
C19611
References text
ReferenceTxt
List of references.
List of references.
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/31/2014
Aliases for variable name not defined
Genetics Testing Short Form
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Free-Form Entry
       
C19612
Genetic result type
GentResltTyp
Type of genetic results.
Result
Mutation Variant;Variant of uncertain significance;Unknown;
Mutation Variant;Variant of uncertain significance;;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/31/2014
Aliases for variable name not defined
Genetics Testing Short Form
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C19614
DNA change text
DNAChngTxt
Text on DNA change
DNA change*
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/31/2014
Aliases for variable name not defined
Genetics Testing Short Form
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Free-Form Entry
       
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 Short Form
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C19601
Genetic test tissue type
GentTestTisTyp
Type of tissue tested.
Tissue
Blood;Amniocytes;Skin;Other;
Blood;Amniocytes;Skin;Other;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/31/2014
Aliases for variable name not defined
Genetics Testing Short Form
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
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/30/2014
Aliases for variable name not defined
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.
Region Tested: Coverage
  
Numeric Values
No instructions available
NC_012920 is the most commonly used reference sequence in GenBank's RefSeq database.
Adult;Pediatric
Supplemental
1.0
12/31/2014
Aliases for variable name not defined
Genetics Testing Short Form
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Free-Form Entry
       
C19602
Genetic test mutation clinical category
GentTestMutClinCat
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
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/31/2014
Aliases for variable name not defined
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
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
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/31/2014
Aliases for variable name not defined
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
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
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/31/2014
Aliases for variable name not defined
Genetics Testing Short Form
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C19603
Genetic test clinical evaluation type
GentTestClinEvalTyp
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
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
12/31/2014
Aliases for variable name not defined
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.
Experimental validation
Functional complementation in cultured cells;Other;
Functional complementation in cultured cells;Other;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Exploratory
1.0
12/31/2014
Aliases for variable name not defined
Genetics Testing Short Form
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
07-22-2019
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