GTR Test Accession:
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GTR000600657.1
Registered in GTR:
2022-10-31
View version history
GTR000600657.1,
registered in GTR:
2022-10-31
Last annual review date for the lab: 2024-10-10
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At a Glance
Conditions (2):
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Neuronopathy, distal hereditary motor, autosomal recessive 8;
D-sorbitol response
Analytes (1):
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Sorbitol
Study description:
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measure sorbitol content in blood and urine
Recruitment status:
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Currently closed
Not provided
Methods (1):
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Biochemical Genetics - Analyte: Tandem mass spectrometry (MS/MS)
Study Description
Test purpose:
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Contribute to generalizable knowledge
Description:
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measure sorbitol content in blood and urine
Offered by:
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Clinical Biochemical Genetics Diagnostic Laboratory
Person responsible for the study:
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Jingyu Huang, PhD, Lab Associate Director
Study contact:
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Jingyu Huang, PhD, Lab Associate Director
Recommended fields not provided:
Protocol number
Participation
Recruitment status:
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Currently closed
Consent form:
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Not provided
Recommended fields not provided:
Eligibility criteria
Conditions
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Total conditions: 2
| Condition/Phenotype | Identifier |
|---|
Test Targets
Analytes
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Total analytes: 1
| Analyte | Associated Condition |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Analyte
Tandem mass spectrometry (MS/MS)
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
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