Cytogenetic Laboratory - Genetics Associates, Inc.

Genetics Associates’ qualified technologists perform over 5,000 cytogenetic diagnostic tests per year in the following areas:

We begin work on each specimen within a few minutes of its arrival. Each sample is separately accessioned and labeled, "set-up", and individually reviewed before it is cultured and harvested. Most national laboratories have minimum specimen requirements, which are not flexible. Samples not meeting their requirements would ultimately be rejected. We at Genetics Associates, Inc. realize that sometimes the perfect draw or tap is not possible, and we put forth our best effort to achieve a result from these samples. This is somewhat technically difficult but we do it in hopes of eliminating the possibility of the physician subjecting the patient to a redraw or retap, which is expensive, invasive and often impossible. We understand that the patient is sometimes on a timetable and that is the reason that we give it our best shot in these situations. Our rate of failure is less than one percent. We have developed proprietary techniques that speed the development of cell growth in tissue culture. To ensure consistently accurate results, two different technologists read each bone marrow/leukemic blood study and our prenatal studies are analyzed by a technologist and microscopically proofed by another technologist before a preliminary report is given. Upon completion of the microscopic analysis, a technologist utilizes a computerized system to capture and karyotype three different cells on each case, instead of the industry norm of two. This ensures that abnormalities of any overlapped chromosomes will be detected. The results are printed out and two different technologists proof the entire case. At this point the case is then sent for final proofing to the laboratory director and upon his agreement is finalized, signed and a written report is sent to the physician.

Constitutional Diagnostics
GAI's prenatal/postnatal realm is constituted of amniotic fluid, chorionic villi sampling, peripheral blood and other diagnostic work associated with suspicious phenotypic traits as well as high risk and failed pregnancies. Our laboratory performs a direct one-day culture in addition to the standard short-term (three-seven day) culture on CVS. This gives the physician critical diagnostic information in about the same time that the sample would have been arriving at a national lab. Early diagnosis precludes the ongoing drawn-out expensive ordeal as worried parents continually press their physician with questions regarding the health of their child and the seemingly endless diagnostic studies.

Just to put things into perspective, we give preliminary telephone reports in as little as 24 hours from sample receipt for chorionic villi sampling, peripheral blood, and bone marrow studies. This gives the physician critical diagnostic information in about the same time that the sample sent to a national lab is arriving.

Cancer Diagnostics
During our cancer evaluations, we look for structural and numerical abnormalities involving chromosomes that tell us more diagnostic and prognostic information regarding a specific type of cancer that may go hand in hand with the physician's diagnosis under consideration. Cancer analysis can also inform us if a bone marrow transplant is successfully addressing a cancer or not.

Fluorescence in Situ Hybridization
Although most FISH studies have not yet been approved for diagnostic purposes, it provides very important information in all cases that it is utilized. The definitive power of FISH is often used to verify any analysis that is not definitive by conventional chromosome study. HER-2/neu FISH has been FDA approved and the FDA has cleared the "Vysis" Aneuvision.

Cancers are being increasingly differentiated to the point where certain drugs and therapeutic procedures can specifically target them. Getting the specific drug to the patient as soon as possible is the goal. We get conclusive results from our FISH testing for a specific breast cancer. ImmunoHistochemistry (IHC) testing is the most common diagnostic tool currently being used by most labs to access breast cancer. IHC testing identifies the presence of a protein produced by a particular gene. This protein is unstable and easily degrades which can yield false results. Also, when the level of overexpression is in the 2+ to 3+ range, it is extremely hard to discern. This discernment is left to the laboratorian who has to differentiate the results of the test, among very subjective shades of brown. Unfortunately, this testing can be very erroneous since it is not "cut and dry" in nature. Our laboratory utilizes FISH testing which gets to the heart of the matter…the more stable DNA. It is a highly definitive and very accurate test. By looking at the more stable DNA structure, FISH can easily identify the exact ratio of the HER-2/neu gene to chromosome 17. Why is chromosome 17 so important? Because that is where the HER-2/neu gene is located. The stability coupled with the ratio reduces percent of human error by a long shot. The drug Herceptin targets a specific type of breast cancer that is identified by excess numbers of the HER-2/neu gene. Herceptin is an effective drug for this type of breast cancer, but is ineffective with other types. FISH testing provides the physician with needed information for the diagnosis and prescription of care.

Our clinical cytogeneticists and technologists are always willing to consult with the physician regarding a result or appropriate testing for a patient. Our local cytogenetic laboratory can impact your bottom line by reducing medical expenses through early diagnosis and by minimizing the likelihood of having to pay for repetitive medical procedures. For these very reasons, many managed care organizations (MCO's) and insurance companies carve out their cytogenetic work from national contracts when a local cytogenetic laboratory is available.