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| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
TSC Familial Mutation Evaluation
Test Code901336
CPT Codes
81403<br>Restricted Client Code
Preferred Specimen
8 mL whole blood collected in EDTA (lavender-top) tubes
Pediatric (0-3 years): 2 mL whole blood
Pediatric (0-3 years): 2 mL whole blood
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Please label each specimen tube with two forms of identification. These forms of identification must also appear on the requisition form.
Ship room temperature, avoid freezing.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing • Sanger Sequencing
Setup Schedule
Set up: Varies; Report available: 14-28 days
Reference Range
No sequence variation detected
Clinical Significance
Detects a single sequence variation in either TSC1 or TSC2 based on proband's mutation.
