Understanding a Fragile X Intermediate Result

By |2021-10-15T16:51:30-04:00Oct 15, 2021|Genetics|

Fragile X DNA analysis is one of the most commonly ordered medical genetic tests. It is recommended as a standard part of the genetic work-up of children with developmental delay, autism or intellectual disability. Adult neurologists and reproductive specialists increasingly recommend Fragile X testing, as awareness has grown about Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and Fragile X-associated Primary Ovarian Insufficiency (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 |2019-04-01T16:11:24-04:00Feb 20, 2018|Genetics|

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.

FMR1 Gray Zone Allele: What Do We Know About It?

By |2020-06-10T17:56:55-04:00Aug 26, 2014|Genetics|

This “gray zone” range was defined in part due to its likelihood of expanding into the full mutation in the next generation. Most people possess an allele that typically contains ~30 CGG repeats.

What Defines a Carrier?

By |2021-07-15T00:16:43-04:00Jun 26, 2013|Genetics|

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.