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A member asked:
What happens if a female is a carrier of allele for niemann-pick disease type a what is her genotype?
A doctor has provided 1 answer
Your genotype: depends on whether you are a carrier of Niemann-Pick Type A, B, C 1, C2, D, E or the rare F. Your OB-GYN will refer you for pre-pregnancy genetic counselling. Gather all medical history possible about your affected family members - onset & clinical presentation of symptoms, clinical course & lifespan. Your insurance will cover molecular genetic testing if you have a documented family history.
Answered 10/31/2014
3.7k views
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