A member asked:

How soon can you test for neurofibromatosis? my gf is three months along.

4 doctors weighed in across 2 answers

Depends: Prenatal testing for the nf1 mutation is available through amniocentesis, usually done around 16 wks, or earlier with cvs biopsy.Testing for the nf2 gene is accurate only 65% of the time & subject to limited availability.Only specialty labs do this work & coordination of the sampling & specimin transfer is important. With a 50% inheritance rate i would prepare for a + result.

Answered 11/17/2015

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Dr. Gerald Mandell answered

Specializes in Nuclear Medicine

If family history: There are prenatal genetic tests for neurofibromatosis. While test results can provide very important information for future parents. Genetic tests available today can be performed only when there is a family history of nf; prenatal tests include chorionic villus sampling can be performed at 10 weeks gestation. Amnioncentesis is performed at 16 weeks.

Answered 12/6/2013

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