Cardio-Facio-Cutaneous (CFC) Syndrome – Tiered Molecular Testing

Disorder Cardio-Facio-Cutaneous (CFC) syndrome
Gene Names Tier 1: Full sequencing of BRAF
Tier 2: Full sequencing of MAP2K1 and MAP2K2
Tier 3: Full sequencing of KRAS
Full Panel: Tiers 1,2 and 3
Clinical info Cardio-facio-cutaneous (CFC) syndrome is characterized by cardiac defects such as pulmonic stenosis, septal defect, hypertrophic cardiomyopathy, and rhythm abnormalities; characteristic facial features, including a large head, short neck, high forehead, epicanthal folds and depressed nasal bridge; and cutaneous findings such as fast growing or dystrophic nails, curly hair, sparse eyebrows and lashes, and thickened or scaly patches of skin. Mild-severe intellectual disability may also be present.
Indications Tiers may be ordered separately or can be run as a concurrent panel. If you are requesting multiple tiers, but would like each run separately, please indicate the order if which testing should be done. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.
Associated Tests The features of CFC syndrome are often found to overlap with those of Costello syndrome and Noonan syndrome. Tiered analyses for each of those conditions is also available.
Detection BRAF mutations are responsible for most cases of clinically diagnosed CFC syndrome. Mutations in MAP2K1 and MAP2K2 have been identified in approximately 10-15% of those with a clinical diagnosis. KRAS mutations may be found in a smaller percentage of patients.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time Sequencing: 6 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation
Tier 1: 81406
Tier 2: 81406 (x2)
Tier 3: 81405
Panel (Tier 1, 2 and 3 run simultaneously):81479

Known mutation: 81403

Deletion/Duplication Analysis: 81229
Cost $2000 for Tier 1
$1500 for Tier 2
$500 for Tier 3
$4000 for Full Panel
$350 for known mutation

$700 for deletion/duplication analysis for an individual gene or $1200 for deletion/duplication analysis of panel of genes

Prenatal diagnosis for a known mutation is $1000. Please contact the laboratory for more information.

Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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