How Is Bloom Syndrome Diagnosed? Diagnosis. Bloom syndrome is diagnosed using any of three tests – the presence of quadriradial (Qr, a four-armed chromatid interchange) in cultured blood lymphocytes, and/or the elevated levels of sister chromatid exchange in cells of any type, and/or the mutation in the BLM gene. How do you test for Bloom
What Are The Symptoms Of Bloom Syndrome? Small clusters of enlarged blood vessels may appear in the rash and in the eyes. Other signs and symptoms include patches of skin that may be lighter or darker than the skin around them, a small jaw and large ears, a high-pitched voice, fertility problems, learning problems, and
Can Amnio Fish Results Be Wrong? If different cell lines are present in the amniocentesis sample, your amniocentesis result is inconclusive, and your doctor may order further testing. The maternal cells may contaminate the fetal cells and give an incorrect or “maternal cell contamination” result. Can a FISH genetic test be wrong? Accuracy and limitations.