Classic view of this page
Achondroplasia
Clinical Genetic Test
Help
offered by
Center for Genetics at Saint Francis
View lab's test page
LinkOut
GTR Test Accession: Help GTR000028677.7
DYSMORPHOLOGYINHERITED DISEASEMUSCULOSKELETAL ... View more
Last updated in GTR: 2024-07-26
View version history
Last annual review date for the lab: 2024-07-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Conditions (2): Help
Achondroplasia; Severe short stature
Genes (1): Help
FGFR3 (4p16.3)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Target population: Help
Individuals with short stature. Pregnancies with abnormal ultrasound findings for …
Clinical validity: Help
The incidence of the c.1138G>A/C variant is 99%
Clinical utility: Help
Establish or confirm diagnosis; Reproductive decision-making
Ordering Information
Offered by: Help
Center for Genetics at Saint Francis
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Lab contact: Help
Lynne Whetsell, BS, MB(ASCP), Staff
lhwhetsell@saintfrancis.com
918-502-3808
Tonya Jones, BS, CG(ASCP), MB(ASCP), Administrator
tsjones@saintfrancis.com
918-502-1730
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
A Molecular TestRequisition form must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information. Note: Counseling and informed consent are recommended for genetic testing. A consent form is available as a resource but not required.
Order URL
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
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Test strategy
Conditions Help
Total conditions: 2
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
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130 Capillary Sequencing System
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Clinical validity: Help
The incidence of the c.1138G>A/C variant is 99%
View citations (2)
  • Legare JM. Achondroplasia. 1998 Oct 12 [updated 2023 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301331.
  • https://www.ncbi.nlm.nih.gov/books/NBK1152
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Reproductive decision-making
View citations (1)

Target population: Help
Individuals with short stature. Pregnancies with abnormal ultrasound findings for bone growth. Individuals with family history who wish prenatal diagnosis.
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
Yes. Ordering physician or genetic counselor contacted and a revised report issued
Recommended fields not provided:
Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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.
Test Comments: Help
Test only targets variant(s) NM_000142.4:c.1138G>A and G>C. Also available in a Dwarfism panel test.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
>99%; determined by in-house validations.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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:
Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.