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TSC Familial Mutation Evaluation
Test Code901336
CPT Codes
81403<br>Restricted Client Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in EDTA (lavender-top) tube, or
Pediatric (0-3 years): 2 mL whole blood
Pediatric (0-3 years): 2 mL whole blood
Minimum Volume
6 mL • 1 mL pediatric
Instructions
Informed consent required.
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.
