Chromosome Analysis

Does this take a look at produce other names?

Genetic testing, karyotyping

What is that this take a look at?

This take a look at appears for modifications, or abnormalities, within the chromosomes that make up your physique’s DNA, or genetic highway map.

Your chromosomes are discovered within the interior a part of your cells, referred to as the nucleus. They comprise all of the genes which have been handed all the way down to you out of your mom and father.

An individual usually has 23 pairs of chromosomes in every cell (23 pairs = 46 whole chromosomes). One among these pairs is named the intercourse chromosomes (X and Y). They decide if you’ll be male or feminine. If you’re male, you’ve gotten an XY pair. If you’re feminine, you’ve gotten an XX pair. The opposite 22 pairs are referred to as autosomes, and they’re the identical in men and women.

Cells for chromosome evaluation can come from a blood pattern, from inside a bone (bone marrow pattern), from a swab of cells taken from inside your mouth, or from a pattern of your pores and skin or hair. Cells may also be taken from the fluid that surrounds a child inside a mom’s uterus (amniocentesis). Or they are often taken from a small piece of the placenta (chorionic villus sampling).

Cells taken for chromosome evaluation are despatched to a lab. Right here they’re ready and organized so as from largest to smallest. By your chromosomes underneath a microscope and taking footage of them (karyotyping), lab specialists might be able to inform whether or not or not you’ve gotten any additional or lacking chromosomes or items of chromosomes.

Abnormalities in your chromosomes assist healthcare suppliers diagnose many well being situations. In some circumstances, your chromosomes will help your healthcare supplier predict a well being downside earlier than you even have signs. Chromosome research completed throughout a being pregnant might predict issues {that a} child could also be born with or develop later in life.

Why do I want this take a look at?

It’s possible you’ll want this take a look at for quite a lot of causes, from serving to to diagnose illness to discovering out whether or not you’ve gotten any modifications in your genes which may be handed on to your kids. Listed here are some causes to have this take a look at:

To assist diagnose or plan therapy for a illness

To seek out out your threat of growing a illness you could have inherited

To seek out out whether or not you carry a genetic change which may be handed on to your kids

To seek out out whether or not your unborn little one might have a genetic downside

To diagnose a genetic downside in a new child or younger little one

To seek out out why you’re having bother getting pregnant

To seek out out why you’re having miscarriages, or dropping a child earlier than delivery

What different checks may I’ve together with this take a look at?

Your healthcare supplier might also order different kinds of genetic testing that search for sure genes inside your chromosomes. For instance, you could have a take a look at referred to as fluorescence in situ hybridization (FISH) evaluation, which appears at particular components of your chromosomes. You may additionally have a extra detailed chromosome take a look at referred to as a chromosomal microarray. This kind of take a look at appears on the chromosomes very intently for small additional or lacking items. Different testing might have a look at the spelling (sequencing) of a number of genes. You may additionally have a blood take a look at to search for irregular proteins that is likely to be an indication sure genes aren’t working the way in which they need to.

What do my take a look at outcomes imply?

Check outcomes might differ relying in your age, gender, well being historical past, and different issues. Your take a look at outcomes could also be totally different relying on the lab used. They could not imply you’ve gotten an issue. Ask your healthcare supplier what your take a look at outcomes imply for you.

Regular chromosomes are reported as:

44 autosomes plus 2 X chromosomes for a girl (karyotype 46,XX)

44 autosomes plus 1 X and 1 Y chromosome for a person (karyotype 46,XY)

Your healthcare supplier will get a report from the lab that explains any abnormalities present in your or your kid’s chromosome evaluation. A karyotype image might also be included within the report.

Your healthcare supplier ought to organize so that you can discuss with an authorized genetic counselor who will help you perceive the outcomes of this take a look at.

How is that this take a look at completed?

This take a look at wants a pattern of your cells. Your healthcare supplier can get the cells in some ways. These are some choices:

Taking a blood pattern by placing a needle right into a vein in your arm

Taking a blood pattern from a new child by making a small prick on the child’s heel

Taking a blood pattern from the umbilical wire of the fetus

Taking out a pattern of cells from the spongy heart of a bone, referred to as the bone marrow. Bone marrow cells may give healthcare suppliers essential details about blood cancers like leukemia and lymphoma.

Taking a pattern of amniotic fluid by placing a protracted, skinny needle by way of the pregnant girl’s pores and skin and into the fluid that surrounds the rising fetus

Taking a pattern of the placenta throughout the first trimester of being pregnant (chorionic villus sampling)

Taking a small piece of tissue. That is referred to as taking a biopsy.

Taking a swab of cells from inside your cheek

Does this take a look at pose any dangers?

Every technique of taking a pattern carries sure dangers. Some have extra dangers than others. Ask your healthcare supplier to debate all of the dangers and advantages with you earlier than your take a look at.

What may have an effect on my take a look at outcomes?

Relying on how your take a look at is completed, sure issues might have an effect on your outcomes. Ask your healthcare supplier to elucidate these potentialities to you.

How do I prepare for this take a look at?

Some chromosome evaluation checks, corresponding to amniocentesis, bone marrow sampling, or a tissue biopsy, do want particular preparation. Ask your healthcare supplier how it is best to put together to your take a look at. Blood sampling or cheek swabs often do not want any preparation.