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Test Code TSC Panel TSC Sequencing and Del/Dup Panel

Important Note

This panel includes sequencing and deletion/duplication analysis for the TSC1 gene and the TSC2 gene concurrently.

Clinical System Name

TSC Sequencing and Del/Dup Panel

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol: 5 mL

Minimum Vol: 3 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 10 µg of purified DNA at a concentration of at least 50 µg/ml

Minimum Vol:

 

Note:

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp:

Storage location: Affix large Cerner labels to tubes and place in refrigerator send-outs rack.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 48 h
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT Performed TAT
N   4w

 

Performing Laboratory

PreventionGenetics

Department

Department: Prevention Genetics, 3700 Downwind Dr, Marshfield, WI 54449

Phone Number: (715) 387-0484

Reference Range

Interpretive report is provided

Methodology

Method: NextGen Sequencing and Multiplex Ligation-Dependent Probe Amplification Assay

Analytical Volume:

Limitations:

CPT Codes

81405, 81407, 81406x2 (Updated 10/11/2016 by sstasi)

Special Instructions

Links to:

 

PreventionGenetics

 

Sample details, PreventionGenetics 

Clinical Utility

Tuberous Sclerosis Complex affects multiple organ systems including the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, fibrous facial plaques, ungual fibromas), brain (e.g. cortical tubers, astrocytomas, seizures, intellectual disability/developmental delay), kidney (cysts, renal cell carcinomas), heart (rhabdomyomas, arrhythmias), and lungs (lymphangioleiomyomatosis [LAM]) (Northrup et al. 2011). It affects nearly 1 in 5,800 children in the United States (Osborne et al. 1991). Nearly 100% of individuals with TSC have skin or dental findings detectable via physical examination. Individuals who meet specific clinical findings (i.e. major and minor features) and/or have a pathogenic variant in one of the TSC genes have a definite diagnosis of Tuberous Sclerosis (Northrup and Krueger 2013). (Northrup and Krueger 2013). For brain abnormalities, such as subependymal giant cell astrocytomas, either surgical resection or mTOR inhibitors can be utilized depending on the presence of singular or multiple lesions. Surveillance of brain, kidney, lung, teeth and other pertinent organs for disease progression have previously been recommended at specific intervals (e.g. 1-3 years) to include periodic magnetic resonance imaging (MRI), computed tomography (CT), echocardiogram, electroencephalograph (EEG), dermatologic and eye exams (Krueger and Northrup 2013).

Send Out Instructions

Reference Test Name: Tuberous Sclerosis Complex Sequencing and Deletion/Duplication Panel
Reference Test Number: 1941
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery