Achondrogenesis
Diagnosis and Testing
How do I get tested for achondrogenesis?
An individual with clinical features of achondrogenesis would benefit from a genetics consultation including molecular testing as well as a skeletal survey.
More Diagnosis and Testing Content
Is there routine newborn testing for achondrogenesis?
Is there more than one test to diagnosis achondrogenesis?
Who else in my family should I test for achondrogenesis?
Is there routine newborn testing for achondrogenesis?
There is not routine newborn screening for achondrogenesis since most cases are diagnosed by ultrasound abnormalities during the pregnancy or at birth.
Is there more than one test to diagnosis achondrogenesis?
An individual with clinical features of achondrogenesis would benefit from a genetics consultation including molecular testing as well as a skeletal survey.
Who else in my family should I test for achondrogenesis?
Once the disease causing mutations in achondrogenesis type 1A and IB have been identified in an affected family member the parents should be tested to confirm that they are carriers of the condition. Prenatal testing as well as preimplantation genetic diagnosis can be offered to the appropriate carrier. Referral to a genetic counselor is beneficial at this time to discuss the impact on the extended family.
