Genetic Test Details | Ontario Health

Achondroplasia / Hypochondroplasia

Test Information

Title: Achondroplasia / Hypochondroplasia
Lab: The Hospital for Sick Children
Category: Skeletal growth
Test Name (CMS Title): Achondroplasia and Hypochondroplasia
Gene/Platform/Region List: FGFR1, FGFR2, FGFR3, TWIST1
Test type
Samples Accepted: Blood, DNA
Indications: Diagnosis
Test Methodology: Sequencing
Methodology Notes: Gene sequencing (Sanger- Robot); Targeted sanger sequencing; MLPA
Disease/Condition: Skeletal dysplasia, Achondroplasia, Hypochondroplasia

The information on this website is intended for informational purposes only and is not a substitute for medical advice. Always consult your health care provider if you have questions or concerns. The use of the information on this website does not create a physician-patient relationship between Ontario Health and you.
Ontario Health is committed to ensuring accessible services and communications to individuals with disabilities. To receive any information on this website in an alternate format, please contact Ontario Health’s Communications Department at: 1-877-280-8538,TTY 1-800-855-0511, or by email at info@ontariohealth.ca.