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Cardio-Facio-Cutaneous (CFC) Syndrome

  • BRAF (V-RAF murine sarcoma viral oncogene homolog B1)
  • MAP2K1 (Mitogen-Activated Protein Kinase Kinase 1)
  • MAP2K2 (Mitogen-Activated Protein Kinase Kinase 2)
  • KRAS (V-Ki-Ras2 Kirsten Rat Sarcoma 2 Viral Oncogene Homolog)
Cardio-facio-cutaneous syndrome is characterized by short stature, developmental delay, congenital heart defects, hair and skin abnormalities, and facial dysmorphism. Moderate mental retardation has been reported in the vast majority (90%) of patients. The clinical features of CFC syndrome overlap with those of Noonan syndrome, Costello syndrome and, rarely, Kabuki syndrome.

Over 62% of individuals with a clinical diagnosis of CFC syndrome are expected to have a mutation in 1 of the 4 functionally related genes, BRAF (43%), MAP2K1/MAP2K2 (14%), and KRAS (>5%).

Testing in CFC syndrome is offered as sequential tiered testing (most cost-effective). Alternatively, comprehensive, simultaneous CFC testing of all 4 CFC genes (most time-effective, with a significantly shorter turn-around-time) or specific testing of any of these genes can be ordered. Once a mutation in the proband is identified, mutation-specific testing in relatives and prenatal diagnosis is available.

Sequential tiered testing Overall test sensitivity in CFC patients Detection rate in mutation-positive CFC patients
Tier 1 Testing BRAF Tier 1 testing (exons 6, 11, 12, 14, 15) ~43% ~69%
Tier 2 Testing MAP2K1/MAP2K2 (11 exons each) ~14% ~23%
Tier 3 Testing KRAS (6 exons) >5% ~8%
Tier 4 Testing BRAF Tier 2 testing (remaining 13 exons) <<1% <<1%
       
Sequential analysis of tiers 1 and 2 is expected to identify 92% of disease-causing mutations in any of these 3 genes with significant cost saving for the majority of patients (see the Information Sheet). The remaining few mutations would be identified in tiers 3 and 4.


Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
CFC, Cardiac, ectodermal, hair, skin, developmental delay, facial dysmorphism, macrocephaly, neck webbing, cryptorchidism, pulmonic stenosis, atrial septal defect, hypertrophic cardiomyopathy, BRAF, MAP2K1, MEK1, MAP2K2, MEK2, KRAS

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