CDE Detailed Report
Disease: Mitochondrial Disease
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Biomarkers in Mitochondrial Disease
Displaying 1 - 40 of 40
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Biomarkers in Mitochondrial Disease
Displaying 1 - 40 of 40
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C60241 | Biomarker cerebrospinal fluid assessment type other text | BiomarkCerebroFluAssessTypOTH | The free-text field related to 'Biomarker cerebrospinal fluid assessment type', specifying other text. Type of biomarker assessed from cerebrospinal fluid (CSF) samples | The free-text field related to 'Biomarker cerebrospinal fluid assessment type', specifying other text. Type of biomarker assessed from cerebrospinal fluid (CSF) samples | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:25.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C02437 | Imaging modality type | ImgModltyTyp | Type of radiologic study performed on the participant | Type of radiologic study performed on the participant | Imaging | MRS;Ultrasound;Other, specify | Magnetic Resonance Spectroscopy (MRS);Ultrasound;Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 4.00 | 2024-02-29 15:53:08.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60231 | EKG type | EKGTyp | Type of EKG (electrocardiogram) performed | Type of EKG (electrocardiogram) performed | EKG | Holter Monitor | Holter Monitor | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:15.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60242 | Biomarker fibroblast assessment type other text | BiomarkFibroblAssessTypOTH | The free-text field related to 'Biomarker fibroblast assessment type', specifying other text. Type of biomarker(s) assessed from fibroblasts samples | The free-text field related to 'Biomarker fibroblast assessment type', specifying other text. Type of biomarker(s) assessed from fibroblasts samples | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:27.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C10682 | Imaging anatomic site | ImgAnatSite | Anatomic site of body part or anatomy scanned in the imaging study | Anatomic site of body part or anatomy scanned in the imaging study | Location | Brain;Liver;Muscle;Other, specify | Brain;Liver;Muscle;Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 4.00 | 2024-02-29 15:53:09.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C60232 | Biomarker blood serum plasma assessment type other text | BiomarkBldSrmPlasmaAssmtTypOTH | The free-text field related to 'Biomarker blood serum plasma assessment type', specifying other text. Type of biomarker(s) assessed from blood serum/plasma samples | The free-text field related to 'Biomarker blood serum plasma assessment type', specifying other text. Type of biomarker(s) assessed from blood serum/plasma samples | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:16.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60243 | Biomarker leukocyte assessment type other text | BiomarkLeukocyteAssessTypOTH | The free-text field related to 'Biomarker leukocyte assessment type', specifying other text. Type of biomarker(s) assessed from leukocytes samples | The free-text field related to 'Biomarker leukocyte assessment type', specifying other text. Type of biomarker(s) assessed from leukocytes samples | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:28.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C18689 | Imaging anatomic site other text | ImgAnatSiteOTH | The free-text field related to 'Imaging anatomic site', specifying other text. Anatomic site of body part or anatomy scanned in the imaging study | The free-text field related to 'Imaging anatomic site', specifying other text. Anatomic site of body part or anatomy scanned in the imaging study | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.10 | 2024-02-29 15:53:09.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60233 | Endocrine test type | EndocrineTestTyp | Type of endocrine test performed | Type of endocrine test performed | Endocrine testing | A1C;Cortisol;Free fatty acids;Glucose;Insulin;Ketone bodies;Other, specify;Thyroid | A1C;Cortisol;Free fatty acids;Glucose;Insulin;Ketone bodies;Other, specify;Thyroid | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:17.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C60244 | Biomarker lymphoblast assessment type other text | BiomarkLymphoblastAssessTypOTH | The free-text field related to 'Biomarker lymphoblast assessment type', specifying other text. Type of biomarker(s) assessed from lymphoblasts samples | The free-text field related to 'Biomarker lymphoblast assessment type', specifying other text. Type of biomarker(s) assessed from lymphoblasts samples | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:30.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C18701 | Imaging modality type other text | ImgModltyTypOTH | The free-text field related to 'Imaging modality type', specifying other text. Type of radiologic study performed on the participant | The free-text field related to 'Imaging modality type', specifying other text. Type of radiologic study performed on the participant | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.10 | 2024-02-29 15:53:08.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60234 | Endocrine test type other text | EndocrineTestTypOTH | The free-text field related to 'Endocrine test type', specifying other text. Type of endocrine test performed | The free-text field related to 'Endocrine test type', specifying other text. Type of endocrine test performed | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:18.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60245 | Biomarker muscle biochemistry assessment type other text | BiomarkMuscBiochAssessTypOTH | The free-text field related to 'Biomarker muscle biochemistry assessment type', specifying other text. Type of biomarker(s) assessed from muscle biochemistry | The free-text field related to 'Biomarker muscle biochemistry assessment type', specifying other text. Type of biomarker(s) assessed from muscle biochemistry | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:31.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60224 | Biomarker source assessment type other text | BiomarkSourceAssesmtTypOTH | The free-text field related to 'Biomarker source assessment type', specifying other text. Type of source obtained to assess the biomarker | The free-text field related to 'Biomarker source assessment type', specifying other text. Type of source obtained to assess the biomarker | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:07.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60235 | Hepatic panel type | HepaticPanelTyp | Type of hepatic panel test performed | Type of hepatic panel test performed | Hepatic panel | Albumin;Alk Phos;ALT;AST;GGT;INR;PT;PTT;Other, specify | Albumin;Alk Phos;ALT;AST;GGT;INR;PT;PTT;Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:19.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C60246 | Biomarker muscle histology assessment type other text | BiomarkMuscHistAssessTypOTH | The free-text field related to 'Biomarker muscle histology assessment type', specifying other text. Type of biomarker(s) assessed from muscle histology | The free-text field related to 'Biomarker muscle histology assessment type', specifying other text. Type of biomarker(s) assessed from muscle histology | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:33.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60225 | Organoid type | OrganoidTyp | Type of organoid | Type of organoid | Organoid(s) | Brain;Kidney;Liver;Other, specify | Brain;Kidney;Liver;Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:10.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C60236 | Hepatic panel type other text | HepaticPanelTypOTH | The free-text field related to 'Hepatic panel type', specifying other text. Type of hepatic panel test performed | The free-text field related to 'Hepatic panel type', specifying other text. Type of hepatic panel test performed | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:20.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60247 | Biomarker genetic assessment type other text | BiomarkGenetAssessTypOTH | The free-text field related to 'Biomarker genetic assessment type', specifying other text. Types of genetic biomarker(s) from the specimen that were evaluated | The free-text field related to 'Biomarker genetic assessment type', specifying other text. Types of genetic biomarker(s) from the specimen that were evaluated | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:34.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60226 | Organoid type other text | OrganoidTypOTH | The free-text field related to 'Organoid type', specifying other text. Type of organoid | The free-text field related to 'Organoid type', specifying other text. Type of organoid | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:11.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60237 | Metabolomic type | MetabolomicTyp | Type of metabolic testing performed | Type of metabolic testing performed | Metabolomics | Targeted;Untargeted | Targeted;Untargeted | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:21.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C60248 | Biomarker specimen other source text | BiomarkSpecOthSrcTxt | Free-text field specifying the other biomarker(s) assessed from specimen sources | Free-text field specifying the other biomarker(s) assessed from specimen sources | Specify other biomarker(s) assessed from specimen sources not listed above | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:35.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C60227 | Clinic assessment type | ClinicAssmtTyp | Type of clinical assessment performed | Type of clinical assessment performed | Clinical assessments | Cardiac evaluation;Ergometry;Head circumference;Height;Indirect calorimetry;Other, specify;Vision;Weight;Hearing | Cardiac evaluation;Ergometry;Head circumference;Height;Indirect calorimetry;Other, specify;Vision;Weight;Hearing | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:12.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C60238 | Vitamin level test type | VitaminLevelTestTyp | Type of vitamin levels tested | Type of vitamin levels tested | Vitamin levels | B12;Folate;Niacin;Other, specify;Pyridoxine;Riboflavin;Thiamine | B12;Folate;Niacin;Other, specify;Pyridoxine;Riboflavin;Thiamine | Alphanumeric |
For assessment of vitamin B12 or folate deficiency, evaluation of plasma methylmalonic acid (MMA) and total homocysteine is recommended. |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:22.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C60228 | Clinic assessment type other text | ClinicAssmtTypOTH | The free-text field related to 'Clinic assessment type', specifying other text. Type of clinical assessment performed | The free-text field related to 'Clinic assessment type', specifying other text. Type of clinical assessment performed | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:13.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60239 | Vitamin level test type other text | VitaminLevelTestTypOTH | The free-text field related to 'Vitamin level test type', specifying other text. Type of vitamin levels tested | The free-text field related to 'Vitamin level test type', specifying other text. Type of vitamin levels tested | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:22.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60229 | Cardiac evaluation type | CardiacEvalTyp | Type of cardiac evaluation performed | Type of cardiac evaluation performed | Cardiac evaluation | Echocardiogram;EKG;MRI;Other, specify | Echocardiogram;EKG;MRI;Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:13.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C60240 | Biomarker urine assessment type other text | BiomarkUrineAssessTypOTH | The free-text field related to 'Biomarker urine assessment type', specifying other text. Type of biomarker(s) assessed from urine samples | The free-text field related to 'Biomarker urine assessment type', specifying other text. Type of biomarker(s) assessed from urine samples | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:24.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C60230 | Cardiac evaluation type other text | CardiacEvalTypOTH | The free-text field related to 'Cardiac evaluation type', specifying other text. Type of cardiac evaluation performed | The free-text field related to 'Cardiac evaluation type', specifying other text. Type of cardiac evaluation performed | Other, specify | Alphanumeric |
No instructions available |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.00 | 2024-02-29 15:53:14.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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| C19548 | Biomarker Analysis Indicator | BiomarkAnaInd | Indicator of whether a biomarker analysis was performed | Indicator of whether a biomarker analysis was performed | Was a biomarker analysis done? | Yes;No | Biomarker analysis was performed;Biomarker analysis was not performed | Alphanumeric |
If yes, please answer questions below: |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 1.10 | 2024-02-29 15:53:03.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19549 | Biomarker source assessment type | BiomarkSourceAssessmtTyp | Type of source obtained to assess the biomarker | Type of source obtained to assess the biomarker | Source | Blood (Serum/Plasma);Urine;CSF;Fibroblasts;Leukocytes;Lymphocytes;Lymphoblasts (EBV);Buccal swab;Imaging;Induced pluripotent stem cells (iPS);Kidney biopsy;Liver biopsy;Muscle biopsy;Cultured Cells;Organoid(s);Red blood cells;Saliva;Whole blood;Other, specify | Blood (Serum/Plasma);Urine;Cerebrospinal fluid;Fibroblasts;Leukocytes;Lymphocytes;Lymphoblasts (EBV);Buccal swab;Imaging;Induced pluripotent stem cells (iPS);Kidney biopsy;Liver biopsy;Muscle biopsy;Cultured Cells;Organoid(s);Red blood cells;Saliva;Whole blood;Other, specify | Alphanumeric |
For each biomarker, the source should be specified. If not listed, use "other" and designate source. |
See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 2.00 | 2024-02-29 15:53:06.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19551 | Biomarker blood serum plasma assessment type | BiomarkBldSrmPlasmaAssmtTyp | Type of biomarker(s) assessed from blood serum/plasma samples | Type of biomarker(s) assessed from blood serum/plasma samples | Which biomarker(s) were assessed from the specimen's serum/plasma sample? | Lactate;Pyruvate;Carnitine levels;CPK;Creatine;Ammonia (NH3);Acylcarnitines;amino acids;CBC;Cell-free mitochondrial DNA (cf-mtDNA);Cystatin C;Endocrine testing;Electrolytes;Hepatic panel;LDH;Lipid panel;Metabolomics;Other, specify;Purines and pyrimidines;Vitamin levels;Fibroblast growth factor 21 (fgf21);lactate/pyruvate ratio;Growth differentiation factor 15 (GDF15) | Lactate;Pyruvate;Carnitine levels;CPK;Creatine;Ammonia (NH3);Acylcarnitines;amino acids;CBC;Cell-free mitochondrial DNA (cf-mtDNA);Cystatin C;Endocrine testing;Electrolytes;Hepatic panel;LDH;Lipid panel;Metabolomics;Other, specify;Purines and pyrimidines;Vitamin levels;Fibroblast growth factor 21 (fgf21);lactate/pyruvate ratio;Growth differentiation factor 15 (GDF15) | Alphanumeric | See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 2.00 | 2024-02-29 15:53:16.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19555 | Biomarker Urine Assessment Type | BiomarkUrineAssessTyp | Type of biomarker(s) assessed from urine samples | Type of biomarker(s) assessed from urine samples | Which biomarker(s) were assessed from the urine sample? | Organic acids;amino acids;Acylglycines;Metabolomics;mtDNA heteroplasmy;Purines and pyrimidines;Urinalysis (UA);Other, specify | Organic acids;amino acids;Acylglycines;Metabolomics;mtDNA heteroplasmy;Purines and pyrimidines;Urinalysis (UA);Other, specify | Alphanumeric | See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 2.00 | 2024-02-29 15:53:23.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19556 | Biomarker cerebrospinal fluid assessment type | BiomarkCerebrospFluAssessTyp | Type of biomarker assessed from cerebrospinal fluid (CSF) samples | Type of biomarker assessed from cerebrospinal fluid (CSF) samples | Which biomarker(s) were assessed from the cerebrospinal fluid (CSF) sample? | 5-methyltetrahydrofolate;amino acids;cell count;GABA;glucose (with simultaneous blood glucose);Lactate;Metabolomics;Neurotransmitters;Protein;Pyruvate;Other, specify | 5-methyltetrahydrofolate;amino acids;cell count;GABA;glucose (with simultaneous blood glucose);Lactate;Metabolomics;Neurotransmitters;Protein;Pyruvate;Other, specify | Alphanumeric | See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 2.00 | 2024-02-29 15:53:25.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19557 | Biomarker fibroblast assessment type | BiomarkFibroblAssessTyp | Type of biomarker(s) assessed from fibroblasts samples | Type of biomarker(s) assessed from fibroblasts samples | Which biomarker(s) were assessed from the specimen's fibroblasts sample? | High resolution respirometry;lactate/pyruvate ratio;OXPHOS enzymology;ATP synthesis;Coenzyme Q10;Blue native gel electrophoresis (OXPHOS);Other, specify;Seahorse live cell metabolic analysis;pyruvate dehydrogenase enzymology | High resolution respirometry;lactate/pyruvate ratio;OXPHOS enzymology;ATP synthesis;Coenzyme Q10;Blue native gel electrophoresis (OXPHOS);Other, specify;Seahorse live cell metabolic analysis;pyruvate dehydrogenase enzymology | Alphanumeric | See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 2.00 | 2024-02-29 15:53:26.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19558 | Biomarker leukocyte assessment type | BiomarkLeukocyteAssessTyp | Type of biomarker(s) assessed from leukocytes samples | Type of biomarker(s) assessed from leukocytes samples | Which biomarker(s) were assessed from the specimen's leukocytes sample? | pyruvate dehydrogenase enzymology;Thymidine phosphorylase enzymology;Coenzyme Q10;mtDNA deletion/duplication;mtDNA copy number;Other, specify;Intracellular free glutathione (fGSH), oxidized disulfide (GSSG), fGSH/GSSG ratio | pyruvate dehydrogenase enzymology;Thymidine phosphorylase enzymology;Coenzyme Q10;mtDNA deletion/duplication;mtDNA copy number;Other, specify;Intracellular free glutathione (fGSH), oxidized disulfide (GSSG), fGSH/GSSG ratio | Alphanumeric | See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 2.00 | 2024-02-29 15:53:28.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19563 | Biomarker lymphoblast assessment type | BiomarkLymphoblastAssessTyp | Type of biomarker(s) assessed from lymphoblasts samples | Type of biomarker(s) assessed from lymphoblasts samples | Which biomarker(s) were assessed from the specimen's lymphoblast sample? | ATP synthesis;High resolution respirometry;Seahorse live cell metabolic analysis;Other, specify | ATP synthesis;High resolution respirometry;Seahorse live cell metabolic analysis;Other, specify | Alphanumeric | See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 2.00 | 2024-02-29 15:53:29.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19564 | Biomarker muscle biochemistry assessment type | BiomarkMuscBiochAssessTyp | Type of biomarker(s) assessed from muscle biochemistry | Type of biomarker(s) assessed from muscle biochemistry | Which biomarker(s) were assessed from the specimen's muscle biochemistry? | ATP synthesis;Blue native gel electrophoresis;Coenzyme Q10;Glutathione content;High resolution respirometry;mtDNA copy number;mtDNA deletion/duplication;OXPHOS enzymology;pyruvate dehydrogenase enzymology;Seahorse live cell metabolic analysis;Other, specify | ATP synthesis;Blue native gel electrophoresis;Coenzyme Q10;Glutathione content;High resolution respirometry;mtDNA copy number;mtDNA deletion/duplication;OXPHOS enzymology;pyruvate dehydrogenase enzymology;Seahorse live cell metabolic analysis;Other, specify | Alphanumeric | See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 2.00 | 2024-02-29 15:53:31.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19567 | Biomarker muscle histology assessment type | BiomarkMuscHistAssessTyp | Type of biomarker(s) assessed from muscle histology | Type of biomarker(s) assessed from muscle histology | Which biomarker(s) were assessed from the specimen's muscle histology? | Gomori trichrome;succinate dehydrogenase (SDH);Cytochrome c Oxidase (COX) (Complex IV);Combined SDH+COX;Nicotinamide adenine dinucleotide tetrazolium reductase (NADH-TR);Other, specify | Gomori trichrome;succinate dehydrogenase (SDH);Cytochrome c Oxidase (COX) (Complex IV);Combined SDH+COX;Nicotinamide adenine dinucleotide tetrazolium reductase (NADH-TR);Other, specify | Alphanumeric | See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 2.00 | 2024-02-29 15:53:32.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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| C19569 | Biomarker genetic assessment type | BiomarkGenetAssessTyp | Type of genetic biomarker(s) from the specimen that were evaluated | Typeof genetic biomarker(s) from the specimen that were evaluated | Which biomarker(s) were assessed from the specimen's genetics? | Exome sequencing (NGS) (nDNA);Whole genome sequencing;Gene sequencing panel;RNA analysis;Mitochondrial gene expression profiling;Mitochondrial haplotype;mtDNA copy number;mtDNA deletion/duplication;mtDNA sequencing;Other, specify | Exome sequencing (NGS) (nDNA);Whole genome sequencing;Gene sequencing panel;RNA analysis;Mitochondrial gene expression profiling;Mitochondrial haplotype;mtDNA copy number;mtDNA deletion/duplication;mtDNA sequencing;Other, specify | Alphanumeric | See Biomarkers Guidance Document | Adult;Pediatric | Supplemental | 2.00 | 2024-02-29 15:53:33.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
