GenomeDx Proband
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
Not provided.
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.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
Lavender top (EDTA) tube
Collection Instructions
Fresh blood preferred
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