Family Testing Services

Athena Diagnostics, Inc. is pleased to announce the recent introduction of its Family Testing Service (FTS). This new service utilizes the same advanced technology as full PKDx™ analysis, but because analysis of only a small segment of DNA is required, the cost is greatly reduced. This simple blood test can be used in a variety of situations:

• Family planning
• Transplant evaluation
• Desire to know
• Differentiate between PKD1 and PKD2

Family Planning

When ADPKD is diagnosed in an individual, blood relatives of the individual may wish to know if they also carry the mutation for family planning purposes. For example, when a person is diagnosed with ADPKD (this person is called the "proband"), that person's brothers and sisters have a 50/50 chance of having the same DNA mutation that caused PKD in the proband. Those brothers and sisters may not be showing signs of the disease, but may wish to know if they carry the mutation for family planning purposes.

By using Athena's FTS, "blood relatives" (siblings, children and parents) of a proband can be tested using a simple blood test to see if they carry the same DNA alteration for a greatly reduced price.

Transplant Evaluation

Some persons with ADPKD will develop renal failure and may require a kidney transplant. In most cases, the best donor candidate is a person who is biologically related to the person requiring the transplant. This is because the risk of transplant rejection is greatly reduced when the donor is a "blood relative" (siblings, children and parents). However, ADPKD is an autosomal dominant disease, meaning that these potential donors are themselves at 50% risk of having the same DNA alteration that is responsible for the disease in the person requiring the transplant. As a result, they could be eliminated from consideration as a donor.

For "blood relatives" (siblings, children and parents) of a person affected with ADPKD, a simple blood sample can be now used to evaluate the appropriateness of the relative as a kidney donor. This testing should be considered in advance of the need in order to provide more time to fully investigate options.

Desire to Know

When a person is diagnosed with ADPKD, it is likely that some of that person's family members will also have the disease, and others will not. Some family members may carry the same mutation as the person diagnosed, but may not yet be showing symptoms of the disease. Some of these people will find it helpful to know if they carry the mutation that caused PKD in their relative. For example, a person with a history of ADPKD in his or her family may want to know their status for family planning reasons. Others may want to know their status in order to take precautionary measures (such as changes in diet, exercise and control of hypertension) that may provide some benefit or even possibly delay the onset of symptoms. Still others may simply want to know their status. Athena's FTS may provide a means for these people to determine their status. It is available as a simple blood test at an affordable price. This is a very personal decision that should be discussed with one's health care provider prior to testing.

Differentiate Between PKD1 and PKD2

In general, alterations in PKD2 result in a later onset disease with less severe symptoms than alterations in PKD1. However, there is significant overlap between the two. Thus, it may not be possible to determine, based on imaging (ultrasound, CT scan, MRI) alone, if the disease in a given family is caused by alterations in PKD1 or PKD2. Once the cause of disease in a family is determined, family members can be inexpensively tested using Athena's FTS.