CDE Detailed Report

Disease: Spinal Muscular Atrophy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Peripheral Nerves - Biopsies and Autopsies

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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
C12237 Specimen overall interpretation status SpecmnOvrllIntrprtnStatus Status of the overall assessment of the specimen Status of the overall assessment of the specimen Overall interpretation of specimen Myopathic;Dystrophic;Neuropathic;Storage disease;Inflammatory;Normal;Inadequate Myopathic;Dystrophic;Neuropathic;Storage disease;Inflammatory;Normal;Inadequate Alphanumeric

Overall Interpretation

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

Multiple Pre-Defined Values Selected

C12281 Tissue abnormality myelin axon decrease status TissAbnrmlyMyelnAxnDecreasStat Status of any observed decrease in the myelinated axon numbers of the epon-embedded tissue specimen Status of any observed decrease in the myelinated axon numbers of the epon-embedded tissue specimen Myelinated axon number, specify Mild decrease;Severe decrease Mild decrease;Severe decrease Alphanumeric

Epon-Embedded Tissue/Electron Microscopy (Nerve Biopsy/Autopsy Specimens)

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

Single Pre-Defined Value Selected

C12238 Biopsy and autopsy epon embedded tissue abnormalities location type BpApEponEmbedTissAbnrmlLocTyp Type of abnormality observed microscopically in epon-embedded tissue specimen Type of abnormality observed microscopically in epon-embedded tissue specimen Abnormalities noted in Myelinated axon number, specify;Myelinated axon clusters, possibly regenerative;Axonal degeneration;Myelination, specify;Mitochondria, specify;Abnormal storage material, specify Myelinated axon number, specify;Myelinated axon clusters, possibly regenerative;Axonal degeneration (active);Myelination, specify;Mitochondria, specify;Abnormal storage material, specify Alphanumeric

Epon-Embedded Tissue/Electron Microscopy (Nerve Biopsy/Autopsy Specimens)

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

Multiple Pre-Defined Values Selected

C12282 Tissue abnormality myelination type TissAbnrmlyMyelinationTyp Type of any observed myelination in the epon-embedded tissue specimen Type of any observed myelination in the epon-embedded tissue specimen Myelination, specify Abnormally thin myelin;Myelin absent from large diameter axons;Abnormal myelin architecture;Onion bulbs;Segmental demyelination/remyelination in excess of age related change;Bands of Bungner Abnormally thin myelin;Myelin absent from large diameter axons;Abnormal myelin architecture;Onion bulbs;Segmental demyelination/remyelination in excess of age related change (teased fiber preparation);Bands of Bungner (empty Schwann cells) Alphanumeric

Epon-Embedded Tissue/Electron Microscopy (Nerve Biopsy/Autopsy Specimens)

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

Multiple Pre-Defined Values Selected

C12226 Specimen source type SpecmnSourcTyp Type of specimen collection source Type of specimen collection source Specimen type? Biopsy;Autopsy Biopsy;Autopsy Alphanumeric

Supplemental - Highly Recommended

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Single Pre-Defined Value Selected

C12239 Electron microscopy performed indicator ElectrnMicroPerfInd Indicator of whether electron microscopy was performed Indicator of whether electron microscopy was performed Was electron microscopy performed? Yes;No Yes;No Alphanumeric

No instructions available

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

Single Pre-Defined Value Selected

C12283 Tissue abnormality mitochondria type TissAbnrmlyMitochondTyp Type of any mitochondrial abnormality observed in the epon-embedded tissue specimen Type of any mitochondrial abnormality observed in the epon-embedded tissue specimen Mitochondria, specify Abnormal shape;Abnormal location, specify;Abnormal numbers;Abnormal architecture Abnormal shape;Abnormal location, specify;Abnormal numbers;Abnormal architecture Alphanumeric

Epon-Embedded Tissue/Electron Microscopy (Nerve Biopsy/Autopsy Specimens)

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

Multiple Pre-Defined Values Selected

C12227 Postmortem interval for autopsy specimen value PstmrtmIntrvlApSpecmnVal Interval in hours of time elapsed between death and the autopsy at which the tissue specimen was collected Interval in hours of time elapsed between death and the autopsy at which the tissue specimen was collected If this is an autopsy specimen, what is the approximate postmortem interval? Numeric Values

Only answered if "Autopsy" is answered for "Is this a biopsy or autopsy specimen?"

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

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hour
C12240 Biochemical or genetic test performed indicator BiochemGenTestPerfInd Indicator of whether subsequent biochemical or genetic testing was performed Indicator of whether subsequent biochemical or genetic testing was performed Was subsequent biochemical or genetic testing performed? Yes;No Yes;No Alphanumeric

No instructions available

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

Single Pre-Defined Value Selected

C17905 Biopsy and autopsy abnormal storage material text BpApAbnrmlStrgMatTxt Text describing biopsy or autopsy material that has been stored abnormally Text describing biopsy or autopsy material that has been stored abnormall Abnormal storage material, specify Alphanumeric Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Peripheral Nerves - Biopsies and Autopsies Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12229 Tissue specimen size measurement TissSpecmnSizeMeasr Measurement of the size of the tissue specimen collected Measurement of the size of the tissue specimen collected Size of fragments Numeric Values

Answer should be recorded as a dimension (AAxAAxAA) in centimeters (cm).

No references available Adult;Pediatric Core 3.00 2013-07-24 11:38:01.2 Peripheral Nerves - Biopsies and Autopsies Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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centimeter
C12241 Biochemical or genetic test name BiochemGenTestName Name of the biochemical or genetic test as performed on the specimen Name of the biochemical or genetic test as performed on the specimen Test name Alphanumeric No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Peripheral Nerves - Biopsies and Autopsies Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C17906 Specimen immunohistochemical stain use indicator SpecmnImmhistchmclStainUseInd Indicator whether immunohistochemcial stains were used on the tissue specimen Indicator whether immunohistochemical stains were used on the tissue specimen If immunohistochemical stains were used, record results in below table N/A N/A Alphanumeric

Histological Findings in Nerve Biopsy or Autopsy specimens

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

Single Pre-Defined Value Selected

C12230 Tissue specimen collection date and time TissSpecmnCollctnDateTime Date (and time if applicable and known) when the tissue specimen was collected Date when the tissue specimen was collected Date of tissue collection 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.).

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

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C12242 Biochemical or genetic test result value BiochemGenTestResltVal Results of the biochemical or genetic test performed on the specimen Results of the biochemical or genetic test performed on the specimen Results (including units) Alphanumeric

Only answered if "Yes" is answered for "Was subsequent biochemical or genetic testing performed?" Include units with results, if applicable.

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

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C17907 Specimen histochemical stain diagnostic abnormality text SpcmnHistStainDiagnsAbnrmlyTxt Text description of details of the specified diagnostic abnormalities on the histochemical stains Text description of details of the specified diagnostic abnormalities on the histochemical stains Details of diagnostic abnormalities Alphanumeric

Histological Findings in Nerve Biopsy or Autopsy specimens

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Peripheral Nerves - Biopsies and Autopsies Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12231 Laboratory name LabName Name of laboratory where assessment was performed Name of laboratory where assessment was performed Name of Laboratory where pathology was performed Alphanumeric

Record the laboratory name where pathology was performed

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C12243 Microscopy epon embedded tissue abnormality type MicscpyEponEmbedTissAbnrmlyTyp Type of microscopy employed to view abnormalities in epon-embedded tissue specimen Type of microscopy employed to view abnormalities in epon-embedded tissue specimen Abnormalities seen on Light microscopy (Toluidine blue staining);Electron microscopy;Both - light microscopy and electron microscopy Light microscopy (Toluidine blue staining);Electron microscopy;Both - light microscopy and electron microscopy Alphanumeric

Epon-Embedded Tissue/Electron Microscopy (Nerve Biopsy/Autopsy Specimens)

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

Single Pre-Defined Value Selected

C18616 Mitochondria abnormality location text MitchndriaAbnrmlLocatnType Text description of the location abnormality of observed in the mitochondria Text description of the location abnormality of observed in the mitochondria Abnormal location, specify Alphanumeric No references available Adult;Pediatric Supplemental 1.00 2013-10-11 00:00:00.0 Peripheral Nerves - Biopsies and Autopsies Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12232 Laboratory director name LabDirectorName Name of laboratory director where assessment was performed Name of laboratory director where assessment was performed Name of Laboratory Director Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Peripheral Nerves - Biopsies and Autopsies Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12277 Biospecimen fragment collect count BiospecmnFragCollctCt Count of fragments collected in the tissue specimen Count of fragments collected in the tissue specimen Number of fragments collected Numeric Values No references available Adult;Pediatric Core 3.00 2013-07-24 11:38:01.2 Peripheral Nerves - Biopsies and Autopsies Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C18828 Histochemical stains used other text HistchmclStainUseOTH The free-text field related to 'Histochemical stains used type' specifying other text. Type of standard histochemical stains used on the tissue specimen The free-text field related to 'Histochemical stains used type' specifying other text. Type of standard histochemical stains used on the tissue specimen Other, specify Alphanumeric

Histological Findings in Nerve Biopsy or Autopsy specimens - Choose all that apply.
Supplemental - Highly Recommended

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C12233 Preservation technique used type PresrvtnTechnqUseTyp Type of preservation technique used to preserve the specimen Type of preservation technique used to preserve the specimen Processing? Frozen;Formalin-fixed/ Paraffin-embedded;Glutaraldehyde-fixed/ Epon-embedded;Glutaraldehyde-fixed/ Teased fibers Frozen;Formalin-fixed/ Paraffin-embedded;Glutaraldehyde-fixed/ Epon-embedded;Glutaraldehyde-fixed/ Teased fibers Alphanumeric

Choose only one

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

Single Pre-Defined Value Selected

C12278 Specimen histochemical stain diagnostic abnormality type SpcmnHistStainDiagnsAbnrmlyTyp Types of diagnostic abnormalities noted on the histochemical stains performed on the tissue specimen Types of diagnostic abnormalities noted on the histochemical stains performed on the tissue specimen Which of the following abnormalities were noted on histochemical stains? Decreased fiber density;Decreased myelination;Atherosclerosis;Amyloid deposits;Myelin ovoids;Abnormal storage material;Granulomas;Microorganisms;Thrombi in blood vessels;Lymphatic inflammation;Vasculitis Decreased fiber density;Decreased myelination;Atherosclerosis;Amyloid deposits;Myelin ovoids;Abnormal storage material;Granulomas;Microorganisms;Thrombi in blood vessels;Lymphatic inflammation;Vasculitis Alphanumeric

Histological Findings in Nerve Biopsy or Autopsy specimens – Choose all that apply and provide details below.

No references available Adult;Pediatric Core 3.00 2013-07-24 11:38:01.2 Peripheral Nerves - Biopsies and Autopsies Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12234 Preservation technique used amount value PresrvtnTechnqUseAmntVal Value of the amount of preservation solution or material used to preserve the specimen Value of the amount of preservation solution or material used to preserve the specimen Amount Alphanumeric

Answer for the freezing or fixation technique used. Answer should be recorded in milligrams (mg). If amount used is not known, select Not known.

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Peripheral Nerves - Biopsies and Autopsies Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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milligram
C12279 Specimen immunohistochemical stain name SpecmnImmhistchmclStainNam Name of immunohistochemical stain used on tissue specimen Name of immunohistochemical stains used in nerve biopsy Stain Used Alphanumeric

Histological Findings in Nerve Biopsy or Autopsy specimens

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Peripheral Nerves - Biopsies and Autopsies Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12235 Histochemical stains used type HistchmclStainUseTyp Type of standard histochemical stains used on the tissue specimen Type of standard histochemical stains used on the tissue specimen Which standard histochemical stains were used? H and E;Masson trichrome;Congo red;Myelin stain, specify;Microorganism stains, specify H and E;Masson trichrome;Congo red;Myelin stain, specify;Microorganism stains, specify Alphanumeric

Histological Findings in Nerve Biopsy or Autopsy specimens - Choose all that apply.
Supplemental - Highly Recommended

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

Multiple Pre-Defined Values Selected

C12280 Specimen immunohistochemical stain result SpecmnImmhistchmclStainReslt Result of immunohistochemical stain performed Result of immunohistochemical stain performed Results Alphanumeric

Histological Findings in Nerve Biopsy or Autopsy specimens

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

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CSV