GTR Test Accession: Help GTR000521418.2
Last updated in GTR: 2019-02-28
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Cardiofaciocutaneous syndrome 1
Genes (5): Help
BRAF (7q34), KRAS (12p12.1), MAP2K1 (15q22.31), MAP2K2 (19p13.3), SOS1 (2p22.1)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Mainly cases fulfilling CFCS clinical diagnostic criteria where it is …
Not provided
Establish or confirm diagnosis; Guidance for management; Lifestyle planning; ...
Ordering Information
Offered by: Help
Test short name: Help
Manufacturer's name: Help
Specimen Source: Help
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fibroblasts
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
  • Public Health Mandate
Test Order Code: Help
CFCS Panel
Lab contact: Help
Elisabeth Castellanos, PhD, Lab Director
+34 930331506
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
When genetic diagnosis is indicated by meeting the clinical criteria required and / or requested by the received genetic counselling, the procedure to follow is as follows: send a 25-ml blood sample during 24h post-extraction at room temperature, frozen lymphocites or 8µg DNA together with order form at laboratory address. …
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Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Sequence Analysis
Data Storage and Backup
Result interpretation
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Test strategy: Help
1)Once we will have the necessary documentation (order form, informed consent and pedigree for familiar cases), the physician / researcher applicant will receive an e-mail confirming the cost of the study to be performed. 2) In case of compliance, the physician / investigator applicant must respond to this e-mail, which … View more
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)

Guidance for management
View citations (2)

Lifestyle planning
View citations (2)
  • Rauen KA. Cardiofaciocutaneous Syndrome. 2007 Jan 18 [updated 2023 Feb 09]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301365.

Predictive risk information for patient and/or family members
View citations (2)

Reproductive decision-making
View citations (2)

Target population: Help
Mainly cases fulfilling CFCS clinical diagnostic criteria where it is needed a genetic confirmation (complete study) or in cases where the analysis is needed to detect the presence of a previously identified mutation in a family (direct study).
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
We follow Clinical Molecular Genetic Society recommendations for the interpretation and reporting of unclassified variants (VUS).

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Recommended fields not provided:
Technical Information
Test Procedure: Help
DNA is extracted from a patient's sample. An NGS library is prepared and enriched by capture in solution using our custom hereditary cancer sub-exome target panel (ICO-IMPPC_HC_Panel_V2.0), which include the whole coding regions of SOS1 (NM_005633), KRAS (NM_004985), BRAF (NM_004333), MAP2K1 (NM_002755), MAP2K2 (NM_030662) genes among others. Enriched library is … View more
Test Confirmation: Help
Mutation is detected DNA level by NGS and validated by an independent technique (Sanger). Splicing mutations that are not previously described are also validated at RNA levels. Studies from patients with mosaicism two independent affected tissues from the same patient are analyzed to detect both first and second hits.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
95% (n=20)
Assay limitations: Help
Mosaicism, genetic heterogeneity, overlaping clinical manifestations
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Software used to interpret novel variations Help
Polyphen, SIFT, PROVEAN, Condel, HSF, NNSplice, SpliceAIDs,
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.