Trisomy 8q

Diagnosis and Testing

How do I get tested for trisomy 8q?

The test used to diagnose trisomy 8q is called a karyotype. This is a picture of the chromosomes, which are instructions for the body. It allows your healthcare team to see if there is an extra copy of chromosome 8q in the cells of the body and where that extra piece is located.

The other type of test that can diagnose trisomy 8q is called array comparative genomic hybridization (array-CGH), which tests smaller regions of the chromosomes for extra or missing pieces. This test can define exactly how big the duplicated piece of chromosome 8q is and what genes are included in the duplication. Array-CGH cannot tell where the extra copy of chromosome 8q is located.

These tests are usually done on blood if your healthcare team suspects your child may have trisomy 8q or another chromosome anomaly. If symptoms are seen on an ultrasound before birth, these tests can be done on the baby before birth. This is usually done by taking a sample of the placenta or amniotic fluid, which is the fluid that the baby floats in inside the mother, and then testing cells from this sample for extra or missing chromosomes.

References
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More Diagnosis and Testing Content

Is there newborn testing for trisomy 8q?

Is there more than one test for trisomy 8q?

Does it matter if you test blood vs. saliva vs biopsy for trisomy 8q?

Who else in my family should I test for trisomy 8q?

Is there newborn testing for trisomy 8q?

Trisomy 8q is not included in the newborn screen that is given to all new babies. However, if trisomy 8q is suspected, the medical team can order a karyotype, which is a picture of the chromosomes, the instructions for the body, or an an array comparative genomic hybridization (array-CGH), which tests smaller regions of the chromosomes for extra or missing pieces. These tests will allow your healthcare team to see if there is an extra copy of chromosome 8q in some of the cells of the body. These tests are usually done on the blood.

References
Is there more than one test for trisomy 8q?

There are two tests that an confirm the diagnosis of trisomy 8q.

The first is called a karyotype. This is a picture of the chromosomes, which are instructions for the body. It allows your healthcare team to see if there is an extra copy of chromosome 8q in the cells of the body and where that extra piece is located.

The other type of test that can diagnose trisomy 8q is called array comparative genomic hybridization (array-CGH), which tests smaller regions of the chromosomes for extra or missing pieces. This test can define exactly how big the duplicated piece of the chromosome 8q is and what genes are included in the duplication. Array-CGH cannot tell where the extra copy of chromosome 8q is located.

References
Does it matter if you test blood vs. saliva vs biopsy for trisomy 8q?

Usually, DNA testing is done on the blood to test for trisomy 8q.

Testing can also be done before a baby is born on cells collected from the amniotic fluid or placenta.

References
Who else in my family should I test for trisomy 8q?

If a child is born with trisomy 8q, it is important to order a DNA test called a karyotype on the parents. There may be a rearrangement (called a balanced translocation) in one of the parent’s chromosomes that makes it more likely that their future children will have trisomy 8q. If a parent is found to have balanced translocation, unaffected siblings of the child with trisomy 8q as well as siblings of the parent with the translocation (aunts and uncles of the affected child) should be tested to see if they carry the same rearrangement. Check with your healthcare team if you have additional questions about who in your family should be tested.

References

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