The first step in studying other family members is for a geneticist or genetic counselor to obtain a detailed family history and construct a pedigree (family tree) to determine which family members should be offered testing.
Individuals with developmental delay or birth defects may be referred to a clinical geneticist for genetic testing or to a developmental pediatrician or neurologist for evaluation and diagnosis of FAS.
Women who carry the abnormal WAS gene and are considering prenatal diagnosis should discuss the risks and benefits of this type of testing with a geneticist or genetic counselor.
It is helpful for the families of a child diagnosed with retinoblastoma to meet with a genetic specialist such as a genetic counselor and/or geneticist.
Evaluations by a pediatric developmental specialist and a geneticist may be of benefit.