Casandra
Casandra Test Code QD83754Version 1 (DRAFT)
Performing Lab
Biotinidase Activity with Reflex to Gene Sequencing
Clinical Use
Order TestUse
This test can confirm biotinidase deficiency in infants identified by newborn screening. Individuals with low enzyme activity will be reflexed to DNA sequencing to identify pathogenic variants.
Special Instructions
Not provided.
Limitations
This assay cannot rule out the possibility of biotinidase deficiency caused by any other type of mutation in the BTD gene. Biochemical enzyme analysis and DNA studies can predict the occurrence of biotinidase deficiency, but not the severity of the condition.
Test Details
Methodology
Other
Biomarkers
2 components
Biotinidase Activity (Enzymatic Colorimetric)Reflex Gene Sequencing • Targeted
Result Turnaround Time
4-9 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
3 mL
Container
EDTA (lavender‑top) tube
Storage Instructions
Room temperature
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 14 days |
| Frozen | Unacceptable |