Karyotype results how long

This type of counselor is trained to help you understand what karyotype test results mean for you, such as your risk for having a child with an inherited genetic condition like Down syndrome. A genetic counselor can help you make well-informed decisions.

Ask to have genetic counseling before making a decision about a karyotype test. Karyotype testing can be done using almost any cell or tissue from the body. A karyotype test usually is done on a blood sample taken from a vein. For testing during pregnancy, it may also be done on a sample of amniotic fluid or the placenta. For this type of test, cells are collected from the fetus using amniocentesis or chorionic villus sampling. Bone marrow aspiration may be used for a karyotype test. Karyotype testing is usually done using a blood sample from a vein.

You may feel nothing at all from the needle, or you may feel a quick sting or pinch. There is very little chance of having a problem from this test. A small bruise may form at the site. Author: Healthwise Staff. This information does not replace the advice of a doctor. Healthwise, Incorporated, disclaims any warranty or liability for your use of this information.

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There are 22 chromosomes known as autosomes and apair of sex chromosomes, either XX female or XY male. When the autosomes chromosomes 1 to 22 were discovered and numbered, they were allocated a number in order of their size, which varies. Number 1 is the biggest autosome and number 22 is the smallest. The X chromosome is much bigger than the Y chromosome, which is one of the smallest chromosomes.

Karyotypes can be abnormal in many ways. Some people have the wrong number of chromosomes which can present as a genetic syndrome. Both of these conditions cause infertility. Chromosomal rearrangements are another type of karyotype problem which are much more common in women and men with infertility and are an often missed issue. This refers to where parts of the chromosome are missing, extra, flipped upside down or in the wrong place.

Unbalanced eggs, sperm and embryos cannot make normal babies. This is the basis of infertility and frequent miscarriages in couples where either partner has a balanced translocation. There are different types of chromosomal translocations, known as Robertsonian traslocations or reciprocal translocations.

Both cause infertility. This is were part of a chromosome has been flipped upside down. In addition, some unbalanced chromosomal arrangements passed on to babies by a man or a woman with a balanced chromosomal rearrangement themselves, can cause serious birth defects.

Karyotype problems are also often missed in couples who have secondary infertility where they have had a child before and are struggling to have another. Karyotype problems can be the cause of previous failed IVF treatments. In the case of carrier testing of an unaffected child, national regulations require that the laboratory has evidence of pre-test counselling by a genetics professional and written consent.

Link to Sonic Genetics consent form. Analysis of metaphase chromosomes by light microscopy. Chromosomes are counted and examined for structural and numerical abnormalities. Specimens may be collected by the requesting practitioner or at any Sonic Healthcare collection centre see link below.

To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i. We recommend that the patient or another adult check the labelling of request forms and sample tubes. Please include details of any clinical abnormalities in the patient being tested, and the results of chromosome or array studies in relatives.

This test has a Medicare rebate which, subject to the requirements of the Medicare descriptor being met, may cover all or part of the cost. The Medicare details, including descriptor and schedule fee, are listed under MBS item Click here for our billing policy.