Mosaic trisomy 8
Diagnosis and Testing
Who else in my family should I test for mosaic trisomy 8?
Mosaic trisomy 8 is typically new in the person who is diagnosed with it, meaning that neither parent has mosaic trisomy 8. If this is the case, it is most likely not necessary to test other family members. However, it may be necessary to test the parents to see if they have a balanced chromosome rearrangement called a translocation. A balanced translocation makes it more likely for their children to have this disorder. Check with your healthcare team if you have additional questions about who in your family should be tested.
Speak to a genetic counselor or a medical geneticist to review the risk of recurrence in your family.
References
- https://rarediseases.info.nih.gov/gard/5359/mosaic-trisomy-8/resources/1
More Diagnosis and Testing Content
How do I get tested for mosaic trisomy 8?
Is there newborn testing for mosaic trisomy 8?
Is there more than one test to diagnose mosaic trisomy 8?
Does it matter if you test blood, saliva or have a biopsy to test for mosaic trisomy 8?
How do I get tested for mosaic trisomy 8?
Mosaic trisomy 8 is typically diagnosed by a chromosomal analysis or karyotype. A karyotype is a picture of the chromosomes, which are packages of our genetic information. Mosaic trisomy 8 may also be detected by another test called a chromosomal microarray. Chromosome microarray is able to detect smaller additions or deletions of genetic information that can be seen with a standard karyotype. Low levels of trisomy 8 mosaicism may be missed by a chromosome microarray.
Speak to a genetic counselor or a medical geneticist to discuss genetic testing for mosaic trisomy 8.
References
- http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96061
Is there newborn testing for mosaic trisomy 8?
Trisomy 8 mosaicism is not included in the newborn screen that is done on all new babies. However, if mosaic trisomy 8 is suspected, the medical team can order a chromosome analysis or karyotype. This is a picture of the chromosomes, which are packages of genetic information. Mosaic trisomy 8 may also be detected by another test called a chromosomal microarray. Chromosome microarray is able to detect smaller additions or deletions of genetic information that can be seen with a standard karyotype. Low levels of trisomy 8 mosaicism may be missed by a chromosome microarray.
Speak to a genetic counselor or a medical geneticist to learn more about the cause of mosaic trisomy 8.
References
- http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96061
Is there more than one test to diagnose mosaic trisomy 8?
There are two tests that can be used to determine if someone has mosaic trisomy 8. One test is called a chromosomal analysis or karyotype which shows a picture of a person's chromosomes. Chromosome are the packages of our genetic information. The other test is called a chromosome microarray. Chromosome microarray is able to detect smaller additions or deletions of genetic information that can be seen with a standard karyotype. Low levels of trisomy 8 mosaicism may be missed by a chromosome microarray. However, if mosaic trisomy 8 is diagnosed, doctors may perform other tests to look for additional symptoms. For example, they may recommend ultrasound of the brain, heart, and kidneys.
Speak to a genetic counselor or a medical geneticist to learn more about genetic testing for trisomy 8.
References
- https://rarediseases.info.nih.gov/gard/5359/mosaic-trisomy-8/resources/1
Does it matter if you test blood, saliva or have a biopsy to test for mosaic trisomy 8?
Chromosome testing to diagnose mosaic trisomy 8 is typically done on a blood sample. If testing is being done prenatally (before the child is born), it may be done through chorionic villus sampling or amniocentesis.
Speak to a genetic counselor or a medical geneticist to learn more about genetic testing for trisomy 8.
References
- https://www.nlm.nih.gov/medlineplus/ency/article/003935.htm
