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Test Code
2446
Test Name
Stiff Skin Syndrome
CPT Codes
81408, 81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Alternate Names
SSKS
Description

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 to be due to a gain of function of the FBN1 gene.  SSKS is characterized by congenital hard, thick skin usually over the entire body, which restricts joint mobility leads to flexion contractures.  Other clinical features include cutaneous nodules affecting the distal interphalangeal joints, relative short stature, and neuropathy due to localized nerve compression.  Individuals with SSKS generally lack the typical skeletal, ocular, and cardiovascular features seen in Marfan syndrome; however, a patient with SSKS and ectopia lentis caused by a mutation in exon 38 of FBN1 has been described.
Testing Schedule
Monday-Friday
Genes
FBN1
MIM
184900
Disease Group
Hair and Nail disorders, Skin, Tooth
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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