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Achondroplasia
Clinical Genetic Test
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offered by
Institute of Human Genetics
View lab's test page
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GTR Test Accession: Help GTR000556521.1
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... View more
Registered in GTR: 2017-08-12
View version history
Last annual review date for the lab: 2024-09-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Achondroplasia
Genes (1): Help
FGFR3 (4p16.3)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: RFLP
Target population: Help
Universal
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Institute of Human Genetics
View lab's website
View lab's test page
Test short name: Help
Achondroplasia
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Physician
  • Out-of-State Patients
  • Physician Assistant
  • Public Health Mandate
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
Kindly contact us for a prior collection of any specimen or you can visit our website.
Order URL
Test service: Help
Genetic counseling
Result interpretation
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
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
RFLP
Applied Biosystem - 2720
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Universal
View citations (1)
  • He X, Xie F, Ren ZR. Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. Genet Test Mol Biomarkers. 2012;16(4):297-301. doi:10.1089/gtmb.2011.0113. Epub 2012 Feb 17. PMID: 22339077.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
For interpreting variant as VUS we use 1000 Genome Database, The Human Gene Mutation Database(HGMD), ExAC database, we also check minor/major allele frequency. Furthermore, we use various softwares to identify the pathogenicity of VUS. All VUS are reconfirmed by Sanger sequencing. All variants are submitted to clinvar.

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. The normal process is we reevaluate VUS data from time to time and whenever find some changes we generate new report, and dispatch the same to patient and also inform the referring physician. Usually it is not the person who is investigated at the lab need to recontact but lab … View more
Recommended fields not provided:
Clinical validity, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The RFLP is greater than 99% sensitive for detecting common variants
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory
VUS:
Software used to interpret novel variations Help
SIFT, Polyphen, Mutation Taster etc.

Laboratory's policy on reporting novel variations Help
After confirming VUS by Sanger sequencing, we screen other family members for confirming its pathogenicity and dispatch report to patients and also communicate report to the referring doctors by special telephonic talk and email.
Recommended fields not provided:
Test Confirmation, 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: Not Applicable
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.