A karyotype is a genetic test usually performed on a blood sample. It checks to see if you have the expected number of chromosomes, and whether the chromosome material is arranged in the correct way. It can check for extra or missing chromosomes, and chromosome rearrangements like balanced translocations, Robertsonian translocations, and inversions. A karyotype can only find large genetic changes. Small genetic changes can be missed. It is often performed if a person is experiencing infertility or recurrent pregnancy loss, or if a child has a disability. It can also be done on a sample obtained from a pregnancy if there is a birth defect or increased chance for a chromosome difference in the pregnancy.

A chromosomal microarray (CMA) is a genetic test that can detect extra or missing genetic material. It can identify genetic changes that are smaller compared to what a karyotype can find, including microdeletions and microduplications. It is often performed when a person is expected to have a genetic condition, or as a follow up test to investigate a genetic result.

Fluorescence in situ hybridization (FISH) is a targeted genetic test that looks at specific chromosomes or chromosome regions. It is usually performed on a blood sample and uses fluorescent probes that bind to selected areas of the chromosomes. FISH is ordered when there is a known or suspected chromosomal concern, such as a balanced translocation, deletion, duplication, or sex chromosome difference, or to follow up on an abnormal karyotype or microarray result. Because FISH is a directed test, it only evaluates the chromosomes or regions specifically requested and will not detect unrelated chromosome changes. FISH can provide faster results than a karyotype and is particularly useful when a focused question about a specific chromosomal rearrangement needs to be answered.

Expanded carrier screening is a genetic test that evaluates whether an individual carries genetic changes associated with inherited conditions that could affect future children. This testing is usually performed on a blood or saliva sample and can assess hundreds of genes at the same time. Most conditions included in expanded carrier screening are inherited in an autosomal recessive or X-linked manner, meaning carriers are typically healthy and unaware of their carrier status. The purpose of this testing is not to predict personal health, but to assess reproductive risk. If both reproductive partners are carriers of the same autosomal recessive condition, or if one partner carries an X-linked condition, there may be an increased chance of having an affected child. Expanded carrier screening cannot detect all genetic conditions and may miss rare or newly described variants, but it provides valuable information to guide reproductive planning, including options such as prenatal testing or preimplantation genetic testing when pursuing IVF.

Single gene testing and panel testing are two types of genetic tests performed when a doctor suspects you may have a genetic condition. This testing can usually be performed on a blood or saliva sample. Single gene testing means that one gene is tested. It is picked based on the person’s symptoms and suspected genetic condition. Panel testing means that more than one gene is being tested at one time. The list of genes is usually put together by the testing laboratory. The genes on the panel are connected in some way. Usually they are testing for the same condition, or for conditions that have similar symptoms. Single gene and panel testing looks for genetic conditions caused by single letters of the genetic code that are different, or from small deletions or duplications in the genes.

Whole genome sequencing (WGS) is a genetic test that assesses as much of the genetic code as possible in one test. It can usually be performed on a blood or saliva sample. The benefit of WGS is that it can often do the job of multiple tests in one. The downside is that since so much of the genetic code is assessed, you may learn too much information and uncover things you don’t want to know. To help with this, Genome Ally can request that only candidate genes associated with your disease are looked at by the testing lab. In this way, we can utilize the technological advantages of WGS without the risk of learning too much information. WGS may be performed on both reproductive partners at the same time or only for the partner who has symptoms (phenotype).

For a couple who have just experienced a pregnancy loss and want to do a deep dive into potential genetic causes, trio whole genome sequencing can be performed. Whole genome sequencing (WGS) is a genetic test that assesses as much of the genetic code as possible in one test. The benefit of WGS is that it can often do the job of multiple tests in one. Trio testing means that testing is done on both parents and DNA from the pregnancy, ensuring the most informative result as quickly as possible.

Whole exome sequencing (WES) is a genetic test that involves testing of a person's entire exome; the part of our genetic code that codes for proteins. Proteins are the building blocks for the body, and therefore the exome is the most important part of the genetic code when it comes to disease. Benefits of WES include that it is broad and flexible, with a lower chance that a genetic cause is missed if one is present since your doctor doesn't have to choose which genes to test. WES can usually be performed on a blood or saliva sample.