fragile x syndrome chromosome analysis…

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what the risks are this test invloves a specific analysis of white blood cells, looking, certain deformity, in the x chromosome, carries genetic information, white blood cells, a blood sample, must be grown, special folate-deficient medium, visualize the "fragile site", test is rarely performed any more, having been largely replaced by a more modern, convenient, reliable test, molecular fragile x testing, in order, accurate diagnosis, proper counseling to be given to a patient, family, molecular testing, correlation of clinical findings must be performed by a professional experienced, in the complicated molecular genetics involved, syndrome, adult, child, after appropriate consent is obtained, blood is drawn, a vein, venipuncture, the elbow, the hand, puncture site is cleaned, antiseptic, a tourniquet, an elastic band, blood pressure cuff, around the upper arm to apply pressure, restrict blood flow, the vein, veins below the tourniquet to distend, fill, blood, a needle is inserted, vein, blood is collected in an air-tight vial, a syringe, tourniquet is removed, restore circulation, once the blood has been collected, needle is removed, puncture site is covered to stop any bleeding, infant, young child, area is cleansed, antiseptic, punctured, a sharp needle, less commonly, a lancet, blood collected, pipette, small glass tube, into a small container, cotton, a bandage, pressure applied, puncture site, is any continued bleeding, sample is shipped promptly to a cytogenetics laboratory, evaluation, adults, no special preparation, genetic counseling, infants, children, physical, psychological preparation, procedure depends on child's age, interests, level of trust, prepare child, they correspond to child's age, infant test, procedure preparation, birth to 1 year, toddler test, procedure preparation, 1 to 3 years, preschooler test, procedure preparation, 3 to 6 years, schoolage test, procedure preparation, 6 to 12 years, adolescent test, procedure preparation, 12 to 18 years, the needle is inserted to draw blood, feel moderate pain, others feel only a prick, stinging sensation, some throbbing, this test is performed to detect fragile x syndrome, identify carriers, the disorder, in the laboratory, a number of cells, evaluated, a percentage is established comparing the number of abnormal cells, number of normal cells, a normal result would indicate that less than 4%, the cells has a constricted section on the long arm, the x chromosome, more than 4%, the cells evaluated test positive, fragile x chromosomes, fragile x syndrome is indicated, again, test is virtually obsolete in practice, molecular analysis has identified, "pre-mutations", usual to repeat a fragile x study performed earlier by chromosomal analysis, the molecular analysis that is now the standard of care, risks associated, venipuncture, slight, excessive bleeding that typically resolves, adequate pressure, a dressing, fainting, feeling light-headed, hematoma, blood accumulating under the skin, infection, a slight risk, the skin is broken, multiple punctures necessary to locate veins, veins, arteries vary in size, obtaining a blood sample.