Chromosome analysis or karyotyping is a test that evaluates the number and structure of a person’s chromosomes to detect abnormalities. Chromosomes are structures located in the cell nucleus that contain the body’s genetic blueprint. Each chromosome contains thousands of genes in specific locations. These genes are responsible for a person’s inherited physical characteristics and have a profound impact on the body’s growth, development, and function.
How much does a karyotype blood test cost?
The average price for this type of test depends on where you live, your doctor, and the combination of tests they perform in one sitting. If there is no insurance available, the cost is somewhere between $550 and $2,200.
According to the forum members of DiapersWappers.com, the price of a karyotype test is around $620.
Also, a member of the BabyCenter.com forum thread was charged $1,550 for one test, but it was all covered by their insurance. Meanwhile, another member had to pay almost $3,100.
HealthTap.com states that the cost of a karyotype test is greatly influenced by the laboratory it is sent to for analysis, and it may cost around $2,100.
Karyotype blood test details
When we say genetic karyotype we mean the number, size, shape, and composition, normal or abnormal of chromosomes. The abnormalities can be visualized microscopically by genetic testing of the karyotype. The cells for a chromosomal analysis can come from a blood sample, bone marrow, or amniotic fluid, which surrounds the baby in pregnancy.
A blood sample containing red blood cells, white blood cells, serum, and other fluids can also be collected in newborns. A karyotype will be made on the actively dividing white blood cells (a process known as mitosis). During pregnancy, the sample can be either amniotic fluid collected during an amniocentesis, or a piece of placenta, collected during other tests (CVS). Amniotic fluid contains fetal skin cells that are used to generate a karyotype.
Karyotype determination can be performed using almost any cell or tissue in the body. It is most often performed from a blood sample taken from a peripheral vein (by venous puncture).
The specialist who will take the blood sample:
- will wrap an elastic band around the arm to stop the blood flow, this causes the veins located below the elastic band to swell and thus facilitates the insertion of the needle on the vein;
- will clean the area with alcohol;
- will insert the needle into the vein (sometimes more stings may be needed);
- will attach a test tube to the respective needle to collect the blood;
- will remove the elastic band after collecting the blood;
- will apply a piece of cotton wool at the puncture site when removing the needle from the vein;
- will apply pressure on the respective area (to avoid the formation of a hematoma), then they will put a plaster on it.
You may not feel anything when the sample is taken by venous puncture. Some people feel a slight sting when the needle penetrates the skin. Some patients feel stinging during harvest. However, most people do not feel anything or notice just a minor discomfort with the positioning of the needle in the vein. The amount of pain felt depends on the experience of the person performing the puncture, the quality of the veins, and the patient’s pain threshold.
Karyotypes are performed in a specific laboratory called a cytogenetics laboratory – a laboratory that studies chromosomes. Not all hospitals have cytogenetics laboratories. If the hospital or medical institution does not have its own cytogenetics laboratory, the test sample will be sent to a laboratory specialized in karyotype analysis. The test sample is analyzed by specially trained cytogenetic technologists, PhD. cytogenetics or medical geneticists.
When is a karyotype test necessary?
There are many situations in which your doctor may recommend a karyotype. These may include:
- Infants or children who have medical conditions that suggest a chromosomal abnormality that has not yet been diagnosed.
- Adults who have symptoms suggestive of a chromosomal abnormality (e.g., men with Klinefelter’s disease may go undiagnosed until puberty or adulthood.) Some of the trisomic mosaic disorders may also go undiagnosed.
- Infertility – A genetic karyotype can be made for infertility. As mentioned above, some chromosomal abnormalities may not be diagnosed until adulthood. A woman with Turner syndrome or a man with one of the variants of Klinefelter may not be aware of the condition until they experience infertility.
- Prenatal testing – In some cases, such as Down syndrome of translocation, the condition can be hereditary, and parents can be tested if a child was born with Down syndrome. (It is important to note that, most of the time, Down syndrome is not a hereditary disorder but rather a mutation of chance.)
- A karyotype is often done as part of tests after a fatal birth.
- Recurrent losses – a parental karyotype can give clues as to the reasons for these devastating recurrent losses. Chromosomal abnormalities, such as trisomy 16, are thought to be the cause of at least 50% of abortions.
- Leukemia – Karyotype testing can also be done to help diagnose leukemia, for example, by looking for the Philadelphia chromosome found in some people with chronic myelogenous leukemia or acute lymphocytic leukemia.
What are the extra costs?
Whether the karyotype test is normal or abnormal, you will need to schedule a follow-up appointment with your doctor in order to discuss the results. The specialist may also order other examinations that go together and/or recommend treatment for certain conditions involved in this diagnosis process as well.
Important things to consider
Because the information obtained by performing the karyotype test can have a substantial impact on a person’s life, it is recommended to consult a specialist in the field (geneticist) or a consultant on genetic issues. They are trained to give advice about a person’s risk of giving birth to a child with a genetic disease, such as sickle cell disease, cystic fibrosis, or hemophilia. A genetic counselor can help us make informed decisions.
Karyotype tests are usually covered by insurance, but it depends on the company you have coverage with and whether or not the provider ordered this test without preauthorization. If your health care provider requests a karyotyping procedure as part of their diagnosis for cancer, they will likely be able to get payment from the insurance company due to its necessity. However, providers may refuse reimbursement, leaving patients responsible for paying out-of-pocket expenses themselves if there is no medical necessity involved (for example, just at parents’ request).
How can I save money?
If you have medical insurance, check with your provider to see if the cost of this test is covered. In case you do not have such an insurance it would be a good idea to purchase one or simply get one for free if possible, by searching online.
Those who are uninsured may be able to get a cash discount if they pay their bill in full.