CDE Detailed Report
Disease: content
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: welcome
Displaying 1 - 50 of 114
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: welcome
Displaying 1 - 50 of 114
| CDE ID | CDE Name | Variable Name | Definition | Short Description | 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 / Guidance) | Subdomain Name | Domain Name | Size | Input Restrictions | Min Value | Max Value | Measurement Type | External Id Loinc | External Id Snomed | External Id caDSR | External Id CDISC |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C60261 | Family history relative global unique identifier number | FamHistRelGUIDNum | Number representing the Global Unique ID (GUID) of the participant's family member | Number representing the Global Unique ID (GUID) of the participant's family member | GUID | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:54:23.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C17893 | Gene missense nonsense variant point mutation location other text | GeneMsNsVrPntMutLocOtherTxt | The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron | The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron | Other, specify | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:59.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59083 | Repository contact text | RepositoryContactText | The free-text field to specify the contact information for a biological sample repository | The free-text field to specify the contact information for a biological sample repository | Repository contact | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2022-07-27 22:08:47.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12785 | Gene variant mutation detected result type | GeneVarMutDetectedResltTyp | Type of gene variant or mutation detected | Type of gene variant or mutation detected | Variant(s) detected | Compound Heterozygous;No pathogenic variant detected;Heterozygous;Digenic (variants in more than one gene);Homozygous;Hemizygous | Compound Heterozygous;No pathogenic variant detected;Heterozygous;Digenic (variants in more than one gene);Homozygous;Hemizygous | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:39.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12798 | Gene missense nonsense variant point mutation location type | GeneMsNsVrPointMutLocTyp | Type of location of the missense/nonsense variant or point mutation | Type of location of the missense/nonsense variant or point mutation | Missense/nonsense variant location | Intron;Exon (Point Variant);Other, specify | Intron;Exon (Point Variant);Other, specify | Alphanumeric |
Choose one |
Adult;Pediatric | Supplemental-Highly Recommended | 4.00 | 2024-02-29 15:54:57.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19598 | Genetic test tissue other text | GentTestTisOTH | The free-text field to specify the type of tissue tested for genetic test | The free-text field to specify the type of tissue tested for genetic test | Other, please specify | Alphanumeric | Adult;Pediatric | Core | 1.10 | 2024-02-29 15:54:44.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 50 |
Free-Form Entry |
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| C59161 | Genotype platform name | GenotypePlatformName | Name of the genotype platform | Name of the genotype platform | Name and version | Alphanumeric | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-28 11:29:59.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C60251 | Diagnosis primary clinical mitochondrial disease type other text | DiagnosPrimryClinMitoDzOTH | The free-text field related to 'Diagnosis primary clinical mitochondrial disease type', specifying other text. Type of primary clinical mitochondrial disease diagnosis | The free-text field related to 'Diagnosis primary clinical mitochondrial disease type', specifying other text. Type of primary clinical mitochondrial disease diagnosis | Other clinical syndrome/symptom, specify | Alphanumeric |
No instructions available |
Question and permissible values from Coriell Institute for Medical Research used and modified with permission.<br />https://www.coriell.org/1/About-Us/Legal-Notice | Adult;Pediatric | Core | 1.00 | 2024-02-29 15:53:56.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12944 | Variant mutational analysis performed indicator | VarMutAnlysisPerfInd | Indicator of whether the variant or mutational analysis was performed on the participant | Indicator of whether the variant or mutational analysis was performed on the participant | Variant analysis performed on the participant | Yes;No | Yes;No | Alphanumeric |
If NO, answer additional questions |
Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:37.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19611 | References text | ReferenceTxt | The free-text field list of references | The free-text field list of references | References | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Core | 1.10 | 2024-02-29 15:55:13.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60262 | Genetic study data sample category type other text | GentcStdyDataSampleCatTypOTH | The free-text field related to 'Genetic study data sample category type', specifying other text. Type of tissue studied | The free-text field related to 'Genetic study data sample category type', specifying other text. Type of tissue studied | Other tissue, specify | Alphanumeric |
No instructions available |
Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:54:28.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C17894 | Gene missense nonsense variant point mutation location intron text | GeneMsNsVrPntMutLocIntronTxt | The free-text field about missense/nonsense variant or point mutation at the intron | The free-text field about missense/nonsense variant or point mutation at the intron | Intron | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:59.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59084 | Genetic study type | GeneticStudyTyp | Type of genetics study conducted | Type of genetics study conducted | Study type(s) | Control set;Longitudinal;Case-control;Parent-offspring trios;Cohort;Clinical trial;Case set;Other, specify | Control set;Longitudinal;Case-control;Parent-offspring trios;Cohort;Clinical trial;Case set;Other, specify | Alphanumeric |
Choose all that apply |
Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-27 22:11:02.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12786 | Allele identifier name | AlleleID | Name that identifies which allele the associated data describe | Name that identifies which allele the associated data describe | Allele specific information | Allele #1;Allele #2 | Allele #1;Allele #2 | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 4.00 | 2024-02-29 15:54:47.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12800 | Gene missense nonsense variant point mutation insertion deletion type | GeneMsNsVrPntMutInsertDelTyp | Type of the insertion deletion of the missense/nonsense variant or point mutation | Type of the insertion deletion of the missense/nonsense variant or point mutation | Insertion Deletion | Deletion;Insertion;Insertion/Deletion | Deletion;Insertion;Insertion/Deletion | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:55:00.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19599 | Gene text | GeneTxt | The free-text field to specify genes screened in the participant for the disease or disorder | The free-text field to specify genes screened in the participant for the disease or disorder | What genes? | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 1.10 | 2024-02-29 15:54:45.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 1000 |
Free-Form Entry |
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| C59163 | Genotype platform version text | GenotypePlatformVersionTxt | The free-text field to specify the genotype platform version | The free-text field to specify the genotype platform version | Name and version | Alphanumeric |
No instructions available |
Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-28 11:32:32.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C60252 | Diagnosis primary clinical mitochondrial disease status | DiagnosPrimryClinMitoDzStat | Status of the primary clinical mitochondrial disease diagnosis | Status of the primary clinical mitochondrial disease diagnosis | Primary Clinical Diagnosis | Absent;Present | Absent;Present | Alphanumeric |
No instructions available |
Question and permissible values from Coriell Institute for Medical Research used and modified with permission.<br />https://www.coriell.org/1/About-Us/Legal-Notice | Adult;Pediatric | Core | 1.00 | 2024-02-29 15:53:56.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C15520 | Genetic testing performed indicator | GenTestPerfInd | Indicator of whether the participant had genetic testing performed | Indicator of whether the participant had genetic testing performed | Was genetic testing performed? | Yes;No | Yes;No | Alphanumeric |
If YES, answer questions on testing details |
Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:00.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19614 | DNA change text | DNAChngTxt | The free-text field listing DNA change | The free-text field listing DNA change | DNA change | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Core | 1.10 | 2024-02-29 15:55:09.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60263 | Genetic test mitochondrial DNA variant mutation quantitative analysis evaluation method type other text | GeneTestMDNAVrMutQntAnEMOTH | The free-text field related to 'Genetic test mitochondrial DNA variant or mutation quantitative analysis evaluation method type', specifying other text. Type of evaluation method for quantitative analyses | The free-text field related to 'Genetic test mitochondrial DNA variant or mutation quantitative analysis evaluation method type', specifying other text. Type of evaluation method for quantitative analyses | Other, specify | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 1.00 | 2024-02-29 15:55:06.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C17895 | Genes sequenced with no mutations text | GeneSeqNoMutationsTxt | The free-text field about additional genes sequenced with no mutations detected | The free-text field about additional genes sequenced with no mutations detected | If YES, indicate | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:42.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59091 | Genetic study type other text | GeneticStudyTypOTH | The free-text field related to 'Genetic study type ', specifying other text. Type of genetics study conducted | The free-text field related to 'Genetic study type ', specifying other text. Type of genetics study conducted | Other, specify | Alphanumeric | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-28 09:27:55.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C12787 | Gene variant mutation category | GeneVarMutationCat | Category of the variant or mutation detected on the gene | Category of the variant or mutation detected on the gene | Variant Class | Missense;Nonsense;Pseudoexon;Splice;Subexonic Insertion/Deletion;Other, specify;Reduced Number of Copies;Increased Number of Copies;Potential (variant of unknown significance) | Missense;Nonsense;Pseudoexon;Splice;Subexonic Insertion/Deletion;Other, specify;Reduced Number of Copies;Increased Number of Copies;Potential (variant of unknown significance) | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:48.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12801 | Gene point mutation nonsense variant codon type | GenePointMutNonsenseVrCodonTyp | Type of nonsense variant or point mutation | Type of nonsense variant or point mutation | Nonsense Type | UAA;UAG;UGA;Not applicable | UAA;UAG;UGA;Not applicable | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:55:00.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19600 | Genetic test diagnostic laboratory name | GentTestDiagLabNam | Name of diagnostic laboratory for genetic testing | Name of diagnostic laboratory for genetic testing | Lab name | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 1.00 | 2014-12-31 09:28:06.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59164 | Genotype platform vendor text | GenotypePlatformVendorTxt | The free-text field to specify the genotype platform vendor | The free-text field to specify the genotype platform vendor | Vendor | Alphanumeric | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-28 11:34:08.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C60253 | Diagnosis primary mitochondrial disease support sign type | DiagnosPrimryMitoDzSuprtSignTyp | Type of sign supportive of primary mitochondrial disease diagnosis | Type of sign supportive of primary mitochondrial disease diagnosis | Signs Supportive of PMD Diagnosis | Bilateral basal ganglia lesions;Lactate peak on MRI;Elevated tissue lactate;Metabolic stroke;Elevated blood alanine;Elevated GDF-15;Elevated CPK;Elevated tissue ragged-red fibers;Tissue COX deficient stain;Tissue SDH positive stain;Abnormal mitochondria in electron microscope;Abnormal OXPHOS function;Other, specify | Bilateral basal ganglia lesions;Lactate peak on MRI;Elevated tissue lactate;Metabolic stroke;Elevated blood alanine;Elevated GDF-15;Elevated CPK;Elevated tissue ragged-red fibers;Tissue COX deficient stain;Tissue SDH positive stain;Abnormal mitochondria in electron microscope;Abnormal OXPHOS function;Other, specify | Alphanumeric |
No instructions available |
Question and permissible values from Coriell Institute for Medical Research used and modified with permission. https://www.coriell.org/1/About-Us/Legal-Notice | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:58.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C16194 | Biological sample in repository indicator | BioSampInReposInd | Indicates whether participant had a biological sample or specimen drawn and banked in a repository | Indicates whether participant had a biological sample or specimen drawn and banked in a repository | Has the participant had a sample drawn for DNA banking? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
If YES, answer the questions on the sample details |
Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:06.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19615 | Genetic test name | GentTestNam | The name of the genetic test used | The name of the genetic test used | What type of testing was performed? | Karyotype;mtDNA panel testing;mtDNA genome deletion/duplication analysis | Karyotype;mtDNA panel testing;mtDNA genome deletion/duplication analysis | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 1.00 | 2014-12-31 13:16:05.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C08001 | Family history relative type biological sample in repository indicator | FmlyHistRelTypBioSampleRepInd | Indicator of whether the participant's family member has donated biological sample(s) to a repository | Indicator of whether the participant's family member has donated biological sample(s) to a repository | Is a sample available from a family member? | Yes;No | Yes;No | Alphanumeric |
If YES, answer the questions on the sample donation details |
No references available | Adult;Pediatric | Supplemental | 3.10 | 2024-02-29 15:54:21.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12788 | Gene exon copy number tested indicator | GeneExonCopyNumTestInd | Indicator of whether the copy number was directly tested for all exons | Indicator of whether the copy number was directly tested for all exons | Was the copy number directly tested for all exons? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:49.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60264 | Genetic test mitochondrial DNA variant mutation quantitative analysis heteroplasmy level type other text | GeneTestMDNAMQntAnHLOTH | The free-text field related to 'Genetic test mitochondrial DNA variant or mutation quantitative analysis heteroplasmy level type', specifying other text. Type of heteroplasmy level for quantitative analyses | The free-text field related to 'Genetic test mitochondrial DNA variant or mutation quantitative analysis heteroplasmy level type', specifying other text. Type of heteroplasmy level for quantitative analyses | Other, specify | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental-Highly Recommended | 1.00 | 2024-02-29 15:55:08.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C17896 | Variant mutational analysis not performed reason | VarMutAnlysisNotPerfRsn | Reason for why the mutational analysis was not performed | Reason for why the mutational analysis was not performed | If NO, provide explanation | Alphanumeric | Adult;Pediatric | Supplemental | 3.20 | 2024-02-29 15:54:38.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C59102 | Data aggregate-level General Research Use appropriate indicator | DataAggregateLevlGRUApprprtInd | Indicator of whether the aggregate-level data is appropriate for General Research Use | Indicator of whether the aggregate-level data is appropriate for General Research Use | Is aggregate-level data appropriate for General Research Use? | Y;N | Yes;No | Alphanumeric | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-28 09:35:48.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C12802 | Gene variant mutation mRNA analysis performed indicator | GeneVarMutMRNAAnlysisPerfInd | Indicator of whether messenger ribonucleic acid (mRNA) analysis was performed | Indicator of whether messenger ribonucleic acid (mRNA) analysis was performed | mRNA analysis performed | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric |
If YES, were implications confirmed |
Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:55:01.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19601 | Genetic test tissue type | GentTestTisTyp | Type of tissue tested | Type of tissue tested | Tissue | Blood;Amniocytes;Skin;Urine;Muscle;Buccal;Other, specify | Blood;Amniocytes;Skin;Urine;Muscle;Buccal;Other, specify | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Core | 2.00 | 2024-02-29 15:55:10.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C59165 | Genotype platform probe count | GenotypePlatformProbeCt | Count of probes for the genotype platform | Count of probes for the genotype platform | # Probes | Numeric Values | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-28 11:36:21.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Free-Form Entry |
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| C60254 | Diagnosis primary mitochondrial disease support sign type other text | DiagnosPrimryMitoDzSuprtSignOTH | The free-text field related to 'Diagnosis mitochondrial disease PMD support sign type', specifying other text. Type of sign supportive of primary mitochondrial disease diagnosis | The free-text field related to 'Diagnosis mitochondrial disease PMD support sign type', specifying other text. Type of sign supportive of primary mitochondrial disease diagnosis | Other, specify | Alphanumeric |
No instructions available |
Question and permissible values from Coriell Institute for Medical Research used and modified with permission. https://www.coriell.org/1/About-Us/Legal-Notice | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:59.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C16195 | Biological sample in repository specimen type | BioSampInReposSpecmnTyp | Type of biological sample or specimen collected and stored in a repository | Type of biological sample or specimen collected and stored in a repository | Specify the type of sample drawn | Saliva;Other, specify;Urine sediment;Blood Draw;Buccal smear (cheek swab);Muscle tissue | Saliva;Other, specify;Urine sediment;Blood Draw;Buccal smear (cheek swab);Muscle tissue | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Supplemental | 4.00 | 2024-03-18 15:21:17.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C56033 | Genetic test result source type | GeneTestResltSourceTyp | Type of source of the participant's genetic test results | Type of source of the participant's genetic test results | Indicate the source(s) of the genetic test results | Neurologist;Genetic counselor;Medical records;Other, specify;Geneticist;Other general practitioner;Other specialty physician | Neurologist;Genetic counselor;Medical records;Other, specify;Geneticist;Other general practitioner;Other specialty physician | Alphanumeric |
Choose all that apply |
Adult;Pediatric | Supplemental | 2.00 | 2024-03-18 15:21:17.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C08002 | Family history relative type biological sample identifier number | FamHistReltvTypBioSampIDNum | Identification (ID) number assigned to family member's biological sample in repository | Identification (ID) number assigned to family member's biological sample in repository | Sample ID | Alphanumeric | Adult;Pediatric | Supplemental | 3.00 | 2013-07-22 16:57:17.79 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C12789 | Gene deletions duplications limits clearly defined indicator | GeneDelDupLimClearlyDefInd | Indicator of whether the limits of deletions and duplications are defined | Indicator of whether the limits of deletions and duplications are defined | Are the limits of the copy number completely defined? | Yes;No;Unknown | Yes;No;Unknown | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.10 | 2024-02-29 15:54:50.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60265 | DNA type | DNATyp | Type of DNA | Type of DNA | Genetic Testing Results | Nuclear DNA;mtDNA | Nuclear DNA;mtDNA | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Core | 1.00 | 2024-02-29 15:55:09.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C18874 | Gene variant mutation category other text | GeneVarMutationCatOTH | The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene | The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene | Other, specify | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:54:49.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C59104 | Genetic study data type category | GeneticStudyDataTypCat | Category of data type expected for the genetics study | Category of data type expected for the genetics study | Please check all data types expected for this study | General;Sequencing;Analysis;Array Data;Sample Types;Genotypes | General;Sequencing;Analysis;Array Data;Sample Types;Genotypes | Alphanumeric |
Choose all that apply |
Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-28 09:38:52.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C12803 | Gene variant mutation implications confirmed mRNA analysis indicator | GeneVrrMutImpConMRNAAnlyssInd | Indicator of whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis | Indicator of whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis | If YES, were implications confirmed | Yes;No | Yes;No | Alphanumeric | Adult;Pediatric | Supplemental-Highly Recommended | 3.20 | 2024-02-29 15:55:02.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| 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;Definitely benign | Definitely pathogenic;Likely pathogenic;Variant of uncertain significance;Likely benign;Definitely benign | Alphanumeric |
No instructions available |
No references available | Adult;Pediatric | Core | 2.00 | 2024-03-18 15:21:17.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C59166 | Genotype platform URL text | GenotypePlatformURLTxt | The free-text field specifying the genotype platform URL (uniform resource locator) | The free-text field specifying the genotype platform URL (uniform resource locator) | URL | Alphanumeric | Question and permissible values from dbGaP/database of Genotypes and Phenotypes/ National Center for Biotechnology Information, National Library of Medicine (NCBI/NLM)/https://www.ncbi.nlm.nih.gov/gap used and modified with permission. | Adult;Pediatric | Supplemental | 1.00 | 2022-07-28 11:39:08.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60255 | Diagnosis primary mitochondrial disease support sign status | DiagnosPrimryMitoDzSuprtSignStat | Status of the sign supportive of primary mitochondrial disease diagnosis | Status of the sign supportive of primary mitochondrial disease diagnosis | Signs Supportive of PMD Diagnosis | Absent;Present;N/A | Absent;Present;N/A | Alphanumeric |
No instructions available |
Question and permissible values from Coriell Institute for Medical Research used and modified with permission.<br />https://www.coriell.org/1/About-Us/Legal-Notice | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:59.0 | Primary Mitochondrial Disease (PMD) Genetics | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
