Blood

Chromosome analysis performed from peripheral blood may provide a diagnosis when there are multiple congenital abnormalities and/or developmental delays present in a child. Lab studies are also beneficial when there is a known or suspected family history of a chromosome abnormality, or when a fetal chromosome analysis requires comparison with parental studies. Chromosome studies can also aid in the diagnosis of many hematological disorders such as AML or CML. To submit a specimen for genetic studies please follow the guidelines listed below.

For patients over 6 months of age please collect 3-5 ml whole blood in a sodium heparin tube. This amount is sufficient for karyotyping and FISH studies. For patients under 6 months of age collect 2 ml whole blood in a sodium heparin tube. This amount is sufficient for karyotyping. If the doctor is requesting FISH studies please provide an additional 1 ml of whole blood.

For leukemic blood collect 3-5 ml whole blood in a sodium heparin tube. Please record the most recent white blood cell count on the requisition form. Specimens must be kept at room temperature or cooler, do not freeze.

Before shipping, write the patient's name on the container the specimen is to be transported in. When completing the Genetics lab requisition form, please include a reason for study.

This test requires a 5-7 day turn-around time.

 

Karyotype shows a male with an extra copy of chromosome 21, Down syndrome. Study performed on peripheral blood.


The links below provide access to Test Forms, CPT codes, etc.

Test Order Forms

Courier Information

CPT Codes and Pricing