Cardio-Facio-Cutaneous (CFC) Syndrome - Tiered
Molecular Testing
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
mental impairment may also be present.
CFC syndrome can be caused
by a mutation in one of four known genes. The Molecular Diagnostic Laboratory of
the Greenwood Genetic Center is offering a tiered approach to the molecular
diagnosis of CFC syndrome. 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.
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Tier 1: Full sequencing
of BRAF
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Tier 2: Full sequencing
of MAP2K1 and MAP2K2
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Tier 3: Full sequencing
of KRAS
These tiers may be ordered
separately or can be run simultaneously.
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 from the
Greenwood Genetic Center.
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.
If necessary, ACD solution A Vacutainer tubes (yellow top) may be submitted.
Please contact the laboratory for more information.
Transport:
Please contact the Molecular Diagnostic Lab Coordinator (1-800-473-9411) for
shipping information. 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.
Analysis standards:
Analysis will be complete within 6 weeks of sample receipt. The laboratory
director and technical staff members independently assess the quality and
interpretation of the test. The Greenwood Genetic Center Molecular Diagnostic
Laboratory is CLIA certified and actively participates in CAP proficiency
surveys.
Reporting of Test
Results: Test results with
interpretation will be mailed and/or faxed following completion of the test.
Verbal reports will be telephoned to the person(s) requesting the test when an
abnormal test result occurs. Consultation with the laboratory director and
explanations of testing protocols are available upon request.
CPT Codes:
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Tier 1: 83890, 83898
(x11), 83904 (x8), 83909 (x8), 83912
-
Tier 2: 83890, 83898
(x8), 83904 (x6), 83909 (x6), 83912
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Tier 3: 83890, 83898
(x2), 83904 (x2), 83909 (x2), 83912
-
Panel (Tier 1, 2 and 3 run simultaneously):
83890, 83898 (x20), 83904 (x19), 83909 (x19), 83912
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