Variant Names: 
Ferguson-Smith disease

Multiple self-healing squamous epithelioma (MSSE; MIM 132800), also known as Ferguson-Smith disease, is an autosomal dominant skin disorder caused by mutations in TGFBR1.  While Loeys-Dietz syndrome (LDS1A; MIM609192) and thoracic aortic aneurysms (AAT5; MIM 608967) result from gain of function mutations in TGFBR1, MSSE appears to be due to a loss of function of the TGFBR1 gene.  Reported mutations include missense changes in exon 2 within the extracellularread more

Tests Available

By gene: TGFBR1
Sanger Sequencing
Test Code: 1590
Deletion / Duplication
Test Code: 1591
NGS/Del Dup Comprehensive
Test Code: 1592

Test Details

Technical Information
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81405 x 1
Turnaround Time: 
Typically 1 to 2 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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