GenomeDx Proband

Casandra

Casandra Test Code GE22273Version 1 (DRAFT)

Performing Lab

Lab GeneDxLab Test ID 82332

Clinical Use

Use

GenomeDx Proband (test code 82332) is designed to provide comprehensive exome and mitochondrial genome sequencing, including deletion testing, for a single individual (the proband). It supports diagnosis of rare genetic conditions, particularly when familial sequencing is not feasible. Testing may identify pathogenic variants across nuclear and mitochondrial genes that contribute to disease, supporting precision diagnosis and informing clinical management.

Special Instructions

For proband-only testing, this test requires the collection of appropriate specimen(s)—blood or buccal swab. Family member samples may be submitted within three weeks to convert to duo or trio testing, but this will alter billing and reports. Order requisition forms must be completed accordingly. Institutional or self-pay billing applies for rapid options. Consult GeneDx for kit requests and requisition form completion.

Limitations

Rapid sequencing options require fresh blood and submission of all relevant samples concurrently; delays or incomplete submissions may extend turnaround time or affect diagnostic yield. The mitochondrial genome and exome are reported separately. Family member samples received after three weeks may not be included in analysis and may impact billing and interpretation.

Test Details