Number of Panel Genes: 

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in multiple tissues; brain, skin, heart, kidney, lung and retina. Neurological and dermatological manifestations are predominant. They include seizures, learning difficulties, mental retardation, hypomelanotic macules, facial angiofibroma, shagreen patch and cafe-au-lait spots. read more

Tests Available

2 Panel Genes: TSC1, TSC2
Next Generation Sequencing
Test Code: 5342
Deletion / Duplication
Test Code: 5343
NGS/Del Dup Comprehensive
Test Code: 5344

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Neurological and Muscular Disorders
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81406 x 1
81407 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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