Understanding a Fragile X Intermediate Result

By |2022-01-06T13:58:02-05:00Oct 15, 2021|Genetics and Inheritance|

Adult neurologists and reproductive specialists increasingly recommend Fragile X testing, as awareness has grown about FXTAS and FXPOI. Fragile X carrier testing during pregnancy has also become relatively commonplace in the US and elsewhere, even for women without a family history suspicious for Fragile X disorders.

A Blood Test for Autism? Not So Fast

By |2023-02-22T11:07:26-05:00Feb 20, 2018|Autism, Genetics and Inheritance|

Among families and professionals, in schools and therapeutic settings, there is already a great deal of confusion about the relationship between genetic test results and developmental diagnoses. We challenge the the notion that autism itself can be directly diagnosed through a blood test.

What Defines a Carrier?

By |2023-05-18T13:08:03-04:00Jun 26, 2013|Genetics and Inheritance, Premutation|

Why is there so much variability among male and female Fragile X carriers? There are a number of factors involved. Because the Fragile X gene is X-linked, gender plays a big role in determining who might show symptoms. Male premutation carriers, because they have only one X chromosome, are much more commonly affected by FXTAS than are female carriers.