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Complete Tuberous Sclerosis Sequencing and CNV Evaluation
Test Code94552
CPT Codes
81405, 81406 (x2), 81407<br><strong>** RESTRICTED USE ** This code is available to client 407, 54840, 55738, 56176, 51618, 51921, 57748, 55851, 53814,51613,52581,54329 ONLY</strong>
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 two EDTA (lavender-top) tubes
Pediatric (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
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.
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
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen
Methodology
Next Generation Sequencing • Copy Number Variation Analyses (NGS) • Targeted Microarray or Multiplex Ligation-dependent Probe Amplification (MLPA) CNV confirmation
Setup Schedule
Set up: As needed, Report Avail: 28-35 days
Clinical Significance
Detects sequence variations, and copy number variations (CNV) in the TSC1 and TSC2 genes in patients with tuberous sclerosis and any combination of seizures, developmental delay, skin lesions, cortical tubers, or hamartomas.
