CDE Detailed Report

Disease: Friedreich's Ataxia
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Laboratory Tests

Displaying 1 - 26 of 26
CDE ID CDE Name Variable Name Definition Short Description Additional Notes (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 / Guideline) Sub Domain Name Domain Name Size Input Restrictions Min Value Max Value Measurement Type External Id Loinc External Id Snomed External Id caDSR External Id CDISC
C58710 Frataxin level status FrataxinLevelStat Level of frataxin Level of frataxin Frataxin level Alphanumeric

For FXN, ApoA1, insulin / blood glucose, and cardiac troponin. Record what tissue was collected, how that tissue was processed (e.g. whole blood vs. platelet), and what assays were used with details (e.g. which antibodies were used).

Adult;Pediatric Core 1.00 2020-05-05 16:27:46.0 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C58711 GAA repeat expansion mutation size text GaaRptExpanMutatSizeTxt Text field for identifying the GAA repeat-expansion mutation Text field for identifying the GAA repeat-expansion mutation GAA repeat-expansion mutation Alphanumeric Adult;Pediatric Core 1.00 2020-05-05 16:36:16.0 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C58712 Lab test method used type LabTestMethodUsedTyp Text field identifying the lab test method used Text field identifying the lab test method used Specify method used Alphanumeric Adult;Pediatric Supplemental?Highly Recommended 1.00 2020-05-05 16:37:59.0 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C58713 Lab test sample type text LabTestSamplTypTxt Text field for identifying the type of sample collected Text field for identifying the type of sample collected Specify type of sample Alphanumeric Adult;Pediatric Supplemental?Highly Recommended 1.00 2020-05-05 16:40:03.0 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C58709 Lab test abnormality result too high too low indicator LabTstAbnmlRsltTooHghTooLowInd Indication of lab panel test result, either too high or too low Indication of lab panel test result, either too high or too low Indicate lab test abnormaility by specifying if result is too high or too low Too high;Too low Too high;Too low Alphanumeric Adult;Pediatric Core 1.00 2020-05-05 16:24:02.0 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C01700 Specimen accession number SpecmnAcssnNum Number with which the specimen taken for the tests being reported was accessioned to the record storage facility Number with which the specimen taken for the tests being reported was accessioned to the record storage facility Accession Number Numeric Values

Provide the accession number or bar code number that is assigned to the specimen.

No references available Adult;Pediatric Core 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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2230047
C01711 Lab test result unit of measure LabTestResltUoM Unit of measure for the laboratory test result Unit of measure for the laboratory test result Unit for Result Alphanumeric

Record the units the numeric results for each laboratory test are measured in.

No references available Adult;Pediatric Core 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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2787947
C01701 Lab specimen collection date and time LabSpecmnCollDateTime Date (and time if applicable and known) when the specimen was collected Date (and time if applicable and known) when the specimen was collected Date and Time Collected Date or Date & Time

Record the date/time according to the ISO 8601, the International Standard for the representation of dates and times (http://www.iso.org/iso/home.html). Record the date (and time) the specimen was collected. The date/time should be recorded to the level of granularity known (e.g., year, year and month, complete data plus hours and minutes, etc) and in the format acceptable to the study database. mm/dd/yyyy and 24-hr clock.

No references available Adult;Pediatric Core 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

2004004
C01713 Lab test result unit of measure UCUM code LabTestResltUoMUCUMCode Unified Code for Units of Measure (UCUM) unit code for the result of the lab test being performed on the specimen Unified Code for Units of Measure (UCUM) unit code for the result of the lab test being performed on the specimen Alphanumeric Unified Code for Units of Measure - http://unitsofmeasure.org/ Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C01702 Pregnancy test date and time PregTestDateTime The date (and time if applicable and known) when the pregnancy test was performed The date (and time if applicable and known) when the pregnancy test was performed Date Performed Date or Date & Time

Record the date/time according to the ISO 8601, the International Standard for the representation of dates and times (http://www.iso.org/iso/home.html). The date/time should be recorded to the level of granularity known (e.g., year, year and month, complete date plus hours and minutes, etc.). mm/dd/yyyy

No references available Adult;Pediatric Supplemental?Highly Recommended 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C01714 Pregnancy test not applicable reason PregTestNotApplcblRsn Reason that performance of a pregnancy test was not applicable to the participant/subject Reason that performance of a pregnancy test was not applicable to the participant/subject Pregnancy test: Reason Test N/A Post-Menopausal;Surgically sterile;Non-surgically sterile;Male Post-Menopausal;Surgically sterile;Non-surgically sterile;Male Alphanumeric No references available Adult;Pediatric Supplemental?Highly Recommended 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C01703 Lab panel category LabPanelCat Category or panel of lab tests, often logically grouped according to type of testing (Hematology, Chemistry, Urinalysis) or specimen type (Blood, Urine, CSF) Category or panel of lab tests, often logically grouped according to type of testing (Hematology, Chemistry, Urinalysis) or specimen type (Blood, Urine, CSF) Lab Panel Chemistry;Hematology;Urinalysis;Other, specify Chemistry;Hematology;Urinalysis;Other, specify Alphanumeric

Check all that apply.

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

3158057
C01720 Lab test LOINC code LabTestLOINCCode Identifier name given to a test performed on body fluid(s) and tissues. Test names are typically comprised of the analyte name, properties (%, Ratio, etc.), the type of body fluid tested, and any special instructions. The Logical Observation Identifiers Names and Codes (LOINC) identifier given to a test performed on body fluid(s) and tissues. Test names are comprised of the analyte name, properties, the type of body fluid tested, and any special instructions. Alphanumeric Logical Observation Identifiers Names and Codes (LOINC) - https://loinc.org/ Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 7

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C01704 Pregnancy test specimen type PregTestSpecmnTyp Type of specimen collected to perform the pregnancy test Type of specimen collected to perform the pregnancy test Pregnancy Test Type Blood;Urine Blood;Urine Alphanumeric

Choose one

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C10564 Fasting prior to sample collection indicator FastBeforeLabTestInd Indicator of whether or not the participant/subject was on fasting prior to blood sample collection Indicator whether participant/subject was fasting prior to collection of the sample on which the lab test being reported was performed Did the participant/ subject fast prior to laboratory testing? Yes;No Yes;No Alphanumeric

Choose one

No references available Adult;Pediatric Supplemental 3.00 2013-07-22 16:57:17.79 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C01705 Lab test name LabTestName Name representing the lab test performed on body fluid(s) and tissues. Test names are typically comprised of the analyte name, properties (%, Ratio, etc.), the type of body fluid tested, and any special instructions. Name representing the lab test performed on body fluid(s) and tissues. Test names are typically comprised of the analyte name, properties (%, Ratio, etc.), the type of body fluid tested, and any special instructions. Test White Blood Cell Count (WBC);Lymphocyte Count;Neutrophil Count;Monocyte Count;Eosinophil Count;Hematocrit (HCT);Hemoglobin (HB);Glycosylated Hemoglobin (HgBA1C);Platelet Count;Vitamin B12;Sodium (Na);Potassium (K);Chloride (Cl);Carbon Dioxide (CO2);Anion Gap;Blood Urea Nitrogen (BUN);Creatinine;Glucose;Fasting Glucose;Fasting Insulin;Iron;Total Iron Binding Capacity(TIBC);Ferritin;Magnesium (Mg);Phosphate (PO4);Calcium (Ca);Ionized Calcium;Bicarbonate (HCO3);Total Cholesterol (TCHOL);Low Density Lipoprotein (LDL);High Density Lipoprotein (HDL);Triglycerides (TGs);Very Low Density Lipoprotein (VLDL);Lipoprotein (a) [Lp(a)];Apolipoprotein-I (apo A1);Apolipoprotein B (apo B);apolipoprotein E (apo E);C-Reactive Protein;Frataxin Level;GAA repeat-expansion mutation;Serum N-terminal atrial natriuretic peptide (ANP-N);Atrial natriuretic peptide (ANP);B-type natriuretic peptide (BNP);Oral glucose tolerance;Vitamin E;Lactate;Troponin I;Troponin T;Creatine Kinase;Creatine Kinase-Myocardial Bands (CK-MB);Hemoglobin Electrophoresis;Alanine Aminotransferase (ALT/ALAT/SGPT);Aspartate Aminotransferase (AST/ASAT/SGOT);Gamma-glutamyl transpeptidase (GGT);Urine White Blood Cells (WBC);Urine pH;Urine Nitrite;Urine Creatinine;8-OH-2-deoxyguanosine;Urine 8-OH-2-deoxyguanosine/creatinine ratio;8-isoprostanes;Plasma malondialdehyde White Blood Cell Count (WBC);Lymphocyte Count;Neutrophil Count;Monocyte Count;Eosinophil Count;Hematocrit (HCT);Hemoglobin (HB);Glycosylated Hemoglobin (HgBA1C);Platelet Count;Vitamin B12;Sodium (Na);Potassium (K);Chloride (Cl);Carbon Dioxide (CO2);Anion Gap;Blood Urea Nitrogen (BUN);Creatinine;Glucose;Fasting Glucose;Fasting Insulin;Iron;Total Iron Binding Capacity(TIBC);Ferritin;Magnesium (Mg);Phosphate (PO4);Calcium (Ca);Ionized Calcium;Bicarbonate (HCO3);Total Cholesterol (TCHOL);Low Density Lipoprotein (LDL);High Density Lipoprotein (HDL);Triglycerides (TGs);Very Low Density Lipoprotein (VLDL);Lipoprotein (a) [Lp(a)];Apolipoprotein-I (apo A1);Apolipoprotein B (apo B);apolipoprotein E (apo E);C-Reactive Protein;Frataxin Level;GAA repeat-expansion mutation;Serum N-terminal atrial natriuretic peptide (ANP-N);Atrial natriuretic peptide (ANP);B-type natriuretic peptide (BNP);Oral glucose tolerance;Vitamin E;Lactate;Troponin I;Troponin T;Creatine Kinase;Creatine Kinase-Myocardial Bands (CK-MB);Hemoglobin Electrophoresis;Alanine Aminotransferase (ALT/ALAT/SGPT);Aspartate Aminotransferase (AST/ASAT/SGOT);Gamma-glutamyl transpeptidase (GGT);Urine White Blood Cells (WBC);Urine pH;Urine Nitrite;Urine Creatinine;8-OH-2-deoxyguanosine;Urine 8-OH-2-deoxyguanosine/creatinine ratio;8-isoprostanes;Plasma malondialdehyde Alphanumeric

Indicate the name of each laboratory test that is run on the specimen.

For FXN, ApoA1, insulin / blood glucose, and cardiac troponin. Record what tissue was collected, how that tissue was processed (e.g. whole blood vs. platelet), and what assays were used with details (e.g. which antibodies were used).

Core tests: Red Blood Cell Count (RBC), White Blood Cell Count (WBC), Lymphocyte Count, Neutrophil Count, Monocyte Count, Eosinophil Count, Hematocrit (HCT), Hemoglobin (HB), Platelet Count, Glucose, Fasting Glucose, Glycosylated Hemoglobin (HgBA1C), Blood Urea Nitrogen (BUN), Creatinine, Sodium (Na), Potassium (K), Chloride (Cl), Carbon Dioxide (CO2), Anion Gap, Alanine Aminotransferase (ALT/ALAT/SGPT), Aspartate aminotransferase (AST/ASAT/SGOT), Gamma-glutamyl transpeptidase (GGT), C-Reactive Protein, Urinalysis test strip

Supplemental-Highly Recommended Tests: Iron, Calcium (Ca), Phosphate (PO4), Magnesium (Mg), Total Iron Binding Capacity (TIBC), Ferritin

Supplemental Tests: Fasting insulin, Oral glucose tolerance, Lactate, Ionized Calcium, Bicarbonate (HCO3), Total Cholesterol (TCHOL), Very Low Density Lipoprotein (VLDL), Low Density Lipoprotein (LDL), High Density Lipoprotein (HDL), Triglycerides (TGs), Urine White Blood Cells, Urine pH, Urine glucose, Urine creatinine, Urine nitrite, Urine culture

Exploratory: Apolipoprotein-I (apo A1)

No references available Adult;Pediatric Core 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

2003746
C10896 Pregnancy test performed indicator PregTestPerfInd Indicator as to whether or not a pregnancy test was performed on the participant/subject Indicator as to whether or not a pregnancy test was performed on the participant/subject Was a pregnancy test performed? Alphanumeric

Choose one

No references available Adult;Pediatric Supplemental?Highly Recommended 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C01706 Lab test result text LabTestResltTxt Result of the laboratory test Result of the laboratory test Result Alphanumeric

Record the numeric results or alpha-numeric results for each laboratory test.

No references available Adult;Pediatric Core 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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2183364
C17503 Hemoglobin electrophoresis type HemoglbnElectrophoresisType Type of hemoglobin that was identified by the electrophoresis test being reported Type of hemoglobin that was identified by the electrophoresis test being reported Hemoglobin electrophoresis result HbSS;HbSA;HBAA;HbFF;HbAF HbSS;HbSA;HBAA;HbFF;HbAF Alphanumeric No references available Adult;Pediatric Supplemental 3.00 2013-07-15 16:08:48.687 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C01707 Lab test abnormality significance type LabTestAbnrmlySignfcnceTyp Indicator as to whether or not the abnormal lab result for the associated test was considered clinically significant for the participant/subject. Indicator as to whether or not the abnormal lab result for the associated test was considered clinically significant for the participant/subject. If abnormal, Clinically Significant? Clinically Significant;Not Clinically Significant Clinically Significant;Not Clinically Significant Alphanumeric

Choose one. If the laboratory test result is abnormal, indicate if the physician considers the result clinically significant

No references available Adult;Pediatric Core 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

3179449
C17505 Urine nitrite result UrineNitriteReslt Result of the urine nitrite test being reported Result of the urine nitrite test being reported Urine Nitrite result Positive;Negative Positive;Negative Alphanumeric No references available Adult;Pediatric Supplemental 3.00 2013-07-15 16:08:48.687 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C01708 Lab test performed indicator LabTestPerfInd Indicator of whether the lab test has been performed on the participant/subject Indicator of whether the lab test has been performed on the participant/subject Test Performed Yes;No Yes;No Alphanumeric

Choose one. Indicate if any laboratory test results were reported for the specimen.

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

3158111
C18729 Lab panel other text LabPanelOTH The free-text field related to 'Lab panel category' specifying other text. Category or panel of lab tests, often logically grouped according to type of testing (Hematology, Chemistry, Urinalysis) or specimen type (Blood, Urine, CSF) The free-text field related to 'Lab panel category' specifying other text. Category or panel of lab tests, often logically grouped according to type of testing (Hematology, Chemistry, Urinalysis) or specimen type (Blood, Urine, CSF) Other, specify Alphanumeric

Check all that apply.

No references available Adult;Pediatric Supplemental 1.00 2014-05-27 13:34:46.0 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

3158057
C01709 Lab test result status LabTestResltStatus Status of the laboratory test result, usually based upon the comparison of the test result to the normal range for the lab test performed Status of the laboratory test result, usually based upon the comparison of the test result to the normal range for the lab test performed Was test result abnormal? Abnormal;Normal;Unknown Abnormal;Normal;Unknown Alphanumeric

Choose one. Indicate if the laboratory test result is abnormal. Abnormal means the test result falls outside the normal range

No references available Adult;Pediatric Core 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

2841229v1
C18731 Lab test other text LabTestOTH The free-text field related to 'Lab test name' specifying other text. Name representing the lab test performed on body fluid(s) and tissues. Test names are typically comprised of the analyte name, properties (%, Ratio, etc.), the type of body fluid tested and any special instructions. Free-text for 'Lab test name'. Name representing the lab test performed on body fluid(s) and tissues. Test names are typically comprised of the analyte name, properties (%, Ratio, etc.), the type of body fluid tested, and any special instructions. Other, specify Alphanumeric

Indicate the name of each laboratory test that is run on the specimen.

No references available Adult;Pediatric Core 1.00 2014-05-27 13:34:46.0 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

Free-Form Entry

2003746
C01710 Pregnancy test qualitative result value PregTestQualResltVal Result of the pregnancy test Result of the pregnancy test Pregnancy test qualitative result Positive;Negative Positive;Negative Alphanumeric

Choose one

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-25 08:54:08.2 Laboratory Tests Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

CSV