Craniodysmorphology Panel (FGFR1,2,3,TWIST)
GTR Test Accession: Help GTR000504103.4
CAP
SYNDROMIC DISEASEINHERITED DISEASEMUSCULOSKELETAL ... View more
Last updated in GTR: 2018-09-24
Last annual review date for the lab: 2021-10-14 Past due LinkOut
At a Glance
Diagnosis
Crouzon syndrome; Acrocephalosyndactyly type I; Antley-Bixler syndrome; ...
Genes (4): Help
FGFR1 (8p11.23), FGFR2 (10q26.13), FGFR3 (4p16.3), TWIST1 (7p21.1)
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis; ...
Individuals exhibiting symptoms consistent with craniodysmorphology syndromes such as Crouzon, …
Incidence of mutations in the FGFR2 gene (exons 8 and …
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Center for Genetics at Saint Francis
View lab's website
View lab's test page
Test short name: Help
FGFR1,2,3, TWIST
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Buccal swab
  • Chorionic villi
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Lab contact: Help
Lynne Whetsell, BS, MB(ASCP), Administrator
lhwhetsell@saintfrancis.com
918-502-1730
How to Order: Help
1. Choose the desired test from the Test Directory.
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
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Order URL
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 8
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 4
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130 Capillary Sequencing Instrument
Targeted variant analysis
SNP Detection
Restriction enzyme digestion and electrophoresis
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
Incidence of mutations in the FGFR2 gene (exons 8 and 10) in Craniodysmorphology syndromes is 80%.
Target population: Help
Individuals exhibiting symptoms consistent with craniodysmorphology syndromes such as Crouzon, Pfeiffer, Jackson-Weiss, Antley-Bixler , Saethre - Chotzen and Apert Syndromes. Incidence of mutations in the FGFR2 gene (exons 8 and 10) in Craniodysmorphology syndromes is 80%.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
HGMD, Disease specific databases and an Internal Variant Database are used for variant interpretation. An assessment is also made with a splice site predictor program. Once established as a VUS, Polyphen and SIFT analyses are performed to help provide an interpretation.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Confirmation: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
CAP Survey MGL3 for Sequencing Platform

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
Polyphen and SIFT

Laboratory's policy on reporting novel variations Help
Routine Report
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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