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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: Myotonic Muscular Dystrophy
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Mutation Analysis
Item count: 20 (20 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
C12783
Mutational analysis results available indicator
MutAnlysisResltsAvailInd
Whether the mutational analysis results are available on this participant/ subject
Mutational analysis results available on this patricipant/subject:
Yes;No;
Yes;No;
Alphanumeric
If no, stop completing form
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Mutational analysis results available indicator
 
Single Pre-Defined Value Selected
       
C12944
Mutational analysis performed indicator
MutAnlysisPerfInd
Whether the mutational analysis was performed on the participant/subject
Mutational analysis performed on the participant/subject:
Yes;No;
Yes;No;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Mutational analysis performed indicator
 
Single Pre-Defined Value Selected
       
C12784
Mutational analysis performed family member indicator
MutAnlysisPerfFamMemberInd
Whether the mutational analysis was performed on a family member
If no, was the mutational analysis performed on a family member?
Yes;No;
Yes;No;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Mutational analysis performed on family member indicator
 
Single Pre-Defined Value Selected
       
C17896
Mutational analysis not performed reason
MutAnlysisNotPerfRsn
Why the mutational analysis was not performed
If no, provide explanation:
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
255
Free-Form Entry
       
C19749
Mutational analysis tissue specimen type
MutAnlysisTissSpecTyp
Type of tissue used for analysis
Tissue used for analysis
Full blood;Muscle tissue;Buccal smear;Urine;Others;
Full blood;Muscle tissue;Buccal smear;Urine;Others;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
2/7/2015
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C19750
Gene mutation myotonic dystrophy detected type
GeneMutMyoDystDetTyp
Type mutations detected
Mutation(s) detected:
Repeat allele;Homozygous Digenic (mutations in more than one gene);No mutations detected;
Repeat allele;Homozygous Digenic (mutations in more than one gene);No mutations detected;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
2/7/2015
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C19751
Gene mutation myotonic dystrophy repeat length assessment indicator
GeneMutMyoDysRepLngthAssessInd
Indicator of whether the mutated repeated allele's length was analyzed
Repeat allele length analyzed?
Yes;No;
Yes;No;
Alphanumeric
If yes,
No references available
Adult;Pediatric
Supplemental
1.0
2/7/2015
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C19752
Gene mutation myotonic dystrophy repeat assessment count
GeneMutMyoDysRepAssessCt
Count of copy numbers of the mutated allele length
Result copy numbers: (number)
  
Numeric Values
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
2/7/2015
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Free-Form Entry
       
C19753
Gene mutation myotonic dystrophy repeat assessment length value
GeneMutMyoDysRepAssessLngthVal
Length of the mutated allele
Repeat length:
  
Numeric Values
in kb
No references available
Adult;Pediatric
Supplemental
1.0
2/7/2015
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Free-Form Entry
  
kilobases
    
C19754
Gene mutation myotonic dystrophy repeat interruption assessment indicator
GeneMutMyoDysRepInterrptAssInd
Indicator of whether repeat interruptions were found
Were repeat interruptions found
Yes;No;
Yes;No;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
2/7/2015
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C19755
Gene mutation myotonic dystrophy repeat interruption assessment text
GeneMutMyoDysRepInterrptAssTxt
The type of repeat interruptions assessed.
If so, which type of interruptions?
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
2/7/2015
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
4000
Free-Form Entry
       
C19756
Gene mutation myotonic dystrophy detect method type
GeneMutMyoDysDetMethTyp
The type of methods used to detect detect repeat interruptions
Methods used:
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
2/7/2015
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
4000
Free-Form Entry
       
C19757
Gene mutation myotonic dystrophy other variant indicator
GeneMutMyoDysOthVarInd
The indicator related to whether there were any additional variants/mutations in the specified genes
Are there additional variants/mutations in DMPK gene or ZNF9 gene
Yes;No;
Yes;No;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
2/7/2015
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C12802
Gene mutation mRNA analysis performed indicator
GeneMRNAAnlysisPerfInd
Whether messenger ribonucleic acid (mRNA) analysis was performed
mRNA analysis performed:
Yes;No;Unknown;
Yes;No;Unknown;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
mRNA analysis performed indicator
 
Single Pre-Defined Value Selected
       
C12803
Gene mutation implications confirmed mRNA analysis indicator
GeneMutImpConMRNAAnlysisInd
Whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis
If Yes, were implications confirmed:
Yes;No;
Yes;No;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene mutation implications confirmed by mRNA analysis indicator
 
Single Pre-Defined Value Selected
       
C19758
Target RNA alternative splicing indicator
TrgtRNAAltSplcngInd
The indicator of whether there were target RNA species for alternative splicing investigated
Are target RNA species for alternative splicing investigated:
Yes;No;
Yes;No;
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
2/7/2015
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
  
Single Pre-Defined Value Selected
       
C19759
Target RNA alternative splicing text
TrgtRNAAltSplcngTxt
Text identifying the type of target RNA species were investigated and in which tissue
Which target RNA species were investigated in which tissue?
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
1.0
2/7/2015
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
 
4000
Free-Form Entry
       
C12804
Gene cDNA mutation name
GeneCDNAMutName
The Human Genome Organisation (HUGO) mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) mutation
cDNA:
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene cDNA mutation name
255
Free-Form Entry
       
C12805
Gene mRNA mutation name
GeneMRNAMutName
The Human Genome Organisation (HUGO) mutation nomenclature of the messenger ribonucleic acid (mRNA) mutation
mRNA:
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene mRNA mutation name
255
Free-Form Entry
       
C12806
Gene protein mutation name
GeneProteinMutName
The Human Genome Organisation (HUGO) mutation nomenclature of the protein mutation
Protein:
  
Alphanumeric
No instructions available
No references available
Adult;Pediatric
Supplemental
3.0
7/24/2013
Aliases for variable name not defined
Mutation Analysis
Laboratory Tests and Biospecimens/Biomarkers
Assessments and Examinations
Gene protein mutation name
255
Free-Form Entry
       
12-10-2018
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