Number of Panel Genes:
2
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:
TSC1, TSC2
Disease Groups:
Neurological and Muscular Disorders
Skin, Tooth, Nail and Hair Disorders
Billing
CPT Codes:
81406 x 1
81407 x 1
Ordering
SKU:
5342 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.