TEST DESCRIPTION

Chromosomal analysis, also known as karyotyping, is a diagnostic test that examines the chromosomes in a person's cells to check for any abnormalities or genetic disorders. This analysis can be also useful in understanding the causes of infertility.

An abnormal parental karyotype refers to a chromosomal abnormality in one or both parents that can result in chromosomal imbalances of the embryo, such as aneuploidy (abnormal number of chromosomes). This can lead to structural abnormalities or genetic disorders in the embryo, which may affect its viability. Furthermore, certain chromosomal abnormalities in parents, such as translocations or inversions, can increase the risk of implantation failure or early miscarriages and recurrent pregnancy loss.

Some chromosomal abnormalities can also affect the fertility of one or both parents. For example, certain structural abnormalities may disrupt the normal functioning of reproductive organs or impair gamete production, making it difficult to conceive or maintain a pregnancy.

In men, chromosomal abnormalities can affect the production or function of sperm, leading to reduced fertility or complete infertility. Some common abnormalities include Klinefelter syndrome (extra X chromosome), Y chromosome microdeletions, and structural rearrangements of chromosomes.

In women, chromosomal abnormalities can disrupt normal ovulation, fertilization, or implantation of an embryo. Some common abnormalities include Turner syndrome (missing or incomplete X chromosome), balanced translocations, and other structural abnormalities.

If chromosomal abnormalities are detected, it can help healthcare professionals understand the underlying cause of infertility and guide treatment options. In some cases, assisted reproductive technologies such as in vitro fertilization (IVF) with preimplantation genetic testing (PGT) may be recommended to increase the chances of a successful pregnancy.

SPECIMEN TYPE: Blood sample is needed for this test. 1x Peripheral Blood/Sodium heparin collection vials x2 (“Green Vacutainers”) sample is required.

SAMPLE COLLECTION: For collection of blood samples, you should arrange for a healthcare professional to draw the bloods for you according to the instructions, in a licensed medical facility.

SAMPLE STORAGE & SHIPPING: Following collection, blood samples can be stored in the refrigerator until pick up and shipped at ambient (room) temperature (no icepacks required). Samples can be stored/travel safely for a few days under these conditions without problems. However, we advise that you arrange sample collection and shipping on a Monday or a Tuesday so that we ensure timely delivery to our lab and to avoid running over a weekend in cases of an unexpected delay.

RESULT TURNAROUND TIME: Depending on how busy the lab is, we estimate you will get your results in 30 business days from the day your sample reaches us *.

Available Tests Code Price  
Peripheral blood karyotyping (chromosomal analysis) CYT1001 350,00 €

* Please be advised that the turnaround time for specialized diagnostic tests is indicative and not guaranteed and may be extended due to a variety of factors, including but not limited to need for additional clinical evaluation of results, repeat of analysis in cases of unclear or ambiguous results and need for resampling in case of inadequate specimen quality. Therefore, the results will be available in the indicated timeframe as long as there are no additional overheads, as stated above, that may extend turnaround time.