Stiff skin syndrome (SSKS; MIM 184900) is an autosomal dominant disorder caused by mutations in exons 37 and 38 of the FBN1 gene.  Exons 37 and 38 encode the fourth transforming growth factor beta-binding protein-like domain (TB4), which mediates cell-matrix interactions by binding integrins.  While Marfan syndrome (MFS1; MIM 154700) results from loss of function mutations in FBN1, SSKS appears toread more

Tests Available

By gene: FBN1
Next Generation Sequencing
Test Code: 1442
Deletion / Duplication
Test Code: 2445
NGS/Del Dup Comprehensive
Test Code: 2446

Related Panels

Test Details

Technical Information
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81408 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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search