Achondrogenesis

Diagnosis and Testing

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.

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