Casandra
Casandra Test Code PG67506Version 1 (DRAFT)
Performing Lab
Trimethylaminuria via the FMO3 Gene
Clinical Use
Order TestUse
This test is intended for individuals with features indicating a clinical or suspected diagnosis of trimethylaminuria, those with increased free trimethylamine and reduced trimethylamine-N-oxide in urine, individuals with a fishy body odor, or reproductive partners of individuals with a known pathogenic or likely pathogenic variant in the FMO3 gene.
Special Instructions
Not provided.
Limitations
The test may not detect all genetic changes within the FMO3 gene, and it is limited to the detection methods used in NGS with CNV analysis. False negatives or positives may occur due to technical limitations or sample quality.
Test Details
Methodology
NGS
Biomarkers
FMO3
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
