Family Testing at Correlagen

Correlagen Diagnostics can perform a targeted sequencing analysis of the gene of interest to assess the presence of familial variant(s).

Our Clinical Laboratory Improvements Amendment (CLIA) regulations require consent signatures for all pre-symptomatic testing. Family testing falls into the pre-symptomatic testing category. In addition, to ensure accurate quality testing of other family members, the laboratory must also know the disease causing variant found in the index family member. To achieve this accuracy, we require a copy of the affected family member’s gene testing report.

We appreciate it if you would please provide the following information for family tests:

• The signed patient consent form.

• A copy of the lab result report for the first tested family member if the test was not performed at Correlagen Diagnostics.

Please note that different laboratories may follow different conventions when naming variants. Therefore, in case the familial variant(s) was previously identified by an outside laboratory, it would be advisable to submit a sample from a family member carrying the variant(s) for quality control reasons. Alternatively, an outside laboratory could provide the sequence of a fragment containing the familial variant with its flanking nucleotides.

In the case where Correlagen Diagnostics did not test the index patient, nor received a sample from a family member carrying the mutation that could serve as a positive control, the testing strategy and the interpretation of the reported results will be based exclusively on the information provided to us.