Invitae Cardio-Facio-Cutaneous Syndrome Panel
Use
The Invitae Cardio-Facio-Cutaneous Syndrome Panel analyzes six genes that are associated with cardio-facio-cutaneous (CFC) syndrome, a condition within the RASopathies. These are genetic disorders linked to aberrations in the Ras/MAPK pathway, crucial for tissue formation during embryogenesis and later stages of development. Patients with CFC syndrome often exhibit multi-system clinical manifestations, including cardiac defects, characteristic facial features, dermatological anomalies, and neurological complications. Accurate diagnosis differentiates CFC from similar syndromes, such as Noonan or Costello syndrome, ensuring appropriate management.
Special Instructions
Management of CFC syndrome requires a multidisciplinary approach due to its multi-systemic impact and phenotypic variability amongst individuals. Comprehensive evaluation and integration of various specialist interventions are critical for proper care planning.
Limitations
The assay achieves a high analytical sensitivity and specificity for detecting single nucleotide variants, indels, and exon-level deletions/duplications, although sensitivity may be reduced for larger indels that are smaller than a full exon. The test is not validated for the detection of structural rearrangements like inversions and translocations, or variants in complex genomic regions, such as short tandem repeats. Sequence changes outside specified regions, or those involving non-coding exons are not analyzed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant