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
Sanger Sequencing
Option 1: Exons 37 and 38 only
$445
Test Code: 1441
Sanger Sequencing
Option 2: Reflex to remaining exons
$1,440
Test Code: 1442

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Test Details

Technical Information
Genes: 
FBN1
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
MIM: 
184900
Billing
Price: 
$445
CPT Codes: 
81479 x 1
Ordering
SKU:
1441
Test Option: 
Exons 37 and 38 only
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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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