Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

TUBEROUS SCLEROSIS (TSC1/TSC2) COMPLEX SEQUENCING & DELETION/DUPLICATION

General Information

Lab Order Codes:

TUBS

Synonyms:

TSC Mutation Evaluation

CPT Codes:

81407 – TSC1/TSC2 Complex, deletion/duplication (Molecular Pathology, Level 8)
81408 – TSC1/TSC2 Complex, sequencing (Molecular Pathology, Level 9)

Test Includes:

TSC1/TSC2 complex evaluation includes both sequencing and deletion/duplication.

Logistics

Test Indications:

Tuberous Sclerosis Complex (TSC) is mainly caused by mutations in the TSC1 and TSC2 genes, which are tumor suppressors that are involved in cellular proliferation and act through multiple signaling pathways (TSC is inherited in an autosomal dominant manner with two-thirds of cases resulting from sporadic germline mutations while one-third of cases are inherited from an affected parent. It presents with complete penetrance, but has variable expressivity. Phenotypes of TSC types can be similar, but TSC2 mutations are reported to cause a more severe clinical presentation (Truncating mutations are found in the majority of TSC cases. Causative mutations reported to date include missense, splice site, small insertions and deletions, and large duplications and deletions.

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

University of Alambama Medical Genomics Laboratory

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

Results with 2-5 weeks

Special Instructions:

Restricted draw times, see Test availability. A completed requisition form and informed consent with a phenotypic checklist must accompany each sample. For questions regarding the forms, please call 1-800-499-4363.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

1 mL blood

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture for blood specimens, invert gently to mix

Special Processing:

Lab Staff: Do Not centrifuge. Specimen must remain in original collection container. Ship specimen ASAP, with proper forms, at ambient temperature via overnight courier. Blood must reach the U of Alabama within 60 hours of draw.

Patient Preparation:

None

Sample Rejection:

Mislabeled or unlabeled specimens; frozen specimens

Interpretive

Reference Range:

Interpretive report

Critical Values:

N/A

Limitations:

N/A

Methodology:

DNA based sequencing and dosage (del/dup) analysis by MLPA.

References:

University of Alabama Medical Genomics Laboratory April 2014
(800) 499-4363 Fax (205) 996-2929

Updates:

2/11/2013: CPT update
3/1/2013: Test moved from Boston University to Prevention Genetics, no longer includes MPLA, deletion/duplication. If needed, order separately.
4/16/2014: Test moved from Prevention Genetics to University of Alabama
and now includes the TSC1/2 Complex.



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