Achondroplasia (FGFR3 gene)
GTR Test Accession: Help GTR000325183.7
CAP
DYSMORPHOLOGYINHERITED DISEASEMUSCULOSKELETAL ... View more
Last updated in GTR: 2022-07-04
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Achondroplasia
Genes (1): Help
FGFR3 (4p16.3)
Molecular Genetics - Targeted variant analysis: Uni-directional Sanger sequencing
Not provided
Over 98% of patients with achondroplasia present the pathogenic variant …
Guidance for management
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
ACH
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
1698
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
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.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
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: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
Over 98% of patients with achondroplasia present the pathogenic variant G380R . The less frequent variant G375C also is associated with achondroplasia.
View citations (1)
  • The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Vajo Z, et al. Endocr Rev. 2000;21(1):23-39. doi:10.1210/edrv.21.1.0387. PMID: 10696568.
Clinical utility: Help
Guidance for management
View citations (1)
  • [Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia]. Mancilla EE, et al. Rev Med Chil. 2003;131(12):1405-10. PMID: 15022403.

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
PMID: 25741868

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Over 98% of patients with achondroplasia present the pathogenic variant G380R. Sequencing analysis approaches an analytical sensitivity of almost 100%. For test validation, samples from patients with this variant were studied and correctly identified.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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