FusionPlex® Pan-Heme Panel

Posted on by Whitney Neufeld-Kaiser

Hematologic malignancies (e.g. leukemias, lymphomas, myelomas, plasma cell neoplasms) frequently have chromosome rearrangements and gene fusions that are important in establishing a diagnosis, predicting prognosis, and guiding therapy choices. The FusionPlex® PanHeme Panel is based on next generation sequencing of RNA (cDNA) from bone marrow, leukemic blood, or lymph node tissue to detect somatic oncogenic gene fusions involving any of 72 genes associated with hematological malignancies, without prior knowledge of the fusion partners or the breakpoints of the translocations.

This test can also be ordered for a single gene or a subset of 2-10 genes, chosen by the ordering clinician based on clinical and pathological findings.

FusionPlex® Solid Tumor Panel

Posted on by Whitney Neufeld-Kaiser

Solid tumors (e.g. sarcomas, lung cancers, thyroid cancers, head and neck cancers, renal cell carcinomas, mammary gland tumors, prostate cancers, brain tumors) frequently have chromosome rearrangements and gene fusions that are important in establishing a diagnosis, predicting prognosis, and guiding therapy choices. The FusionPlex® Solid Tumor Panel is based on next generation sequencing of RNA (cDNA) from solid tumor tissue to detect somatic oncogenic gene fusions involving any of over 100 genes associated with solid tumors, without prior knowledge of the fusion partners or the breakpoints of the translocations.

This test can also be ordered for a single gene or a subset of 2-10 genes, chosen by the ordering clinician based on clinical and pathological findings.

Droplet digital PCR (ddPCR) for deletions and duplications

Posted on by Whitney Neufeld-Kaiser

This droplet digital PCR (ddPCR) test is most often used to test family members for deletions or duplications initially detected by chromosomal microarray analysis (CMA) or another test method.  It is a less expensive option than CMA.  ddPCR allows for detection of deletions and duplications that are too small to be seen using FISH or CMA.  ddPCR also targets only the deletion or duplication of interest.  This avoids the possibility of incidentally detecting a different copy number variant.

Y Chromosome Microdeletion Analysis

Posted on by Stephen Schildbach

Small deletions of the Y chromosome are found in 5-13% of men who are otherwise healthy but have abnormal sperm shape or movement, a low sperm count, or no sperm.

Neoplasia Chromosomal Microarray Analysis

Posted on by Stephen Schildbach

Neoplasia chromosomal microarray analysis (CMA), is increasingly relevant in establishing a diagnosis and prognosis for people with cancer (e.g. Gunnarsson, et al. 2008).  With a single test, CMA detects chromosome deletions, chromosome duplications and amplifications, and copy neutral loss of heterozygosity (LOH) across the entire genome.

Chromosomal microarray analysis is not recommended as a test method for post therapy follow-up or for minimal residual disease detection.

Constitutional Chromosomal Microarray Analysis

Posted on by Stephen Schildbach

Chromosomal microarray analysis (CMA) can be used to diagnose genetic syndromes caused by chromosome deletions, chromosome duplications, or uniparental disomy (UPD).  Examples include Down syndrome, DiGeorge syndrome, velocardiofacial syndrome, Williams syndrome, Prader-Willi syndrome, and unbalanced translocations.

It is typically the best diagnostic genetic test to begin with when:

Ordering providers can choose whether or not variants of uncertain clinical significance are reported.  The latter may be most useful for prenatal testing when ultrasound has been normal and the chance of a genetic abnormality is low.  Wapner, et al. 2012 found that CMA revealed more clinically relevant chromosome deletions and duplications than did standard karyotyping, even when the reason for pursuing testing was maternal age or abnormal serum screening results.

Sample Reports

Normal Result

Abnormal Result

Uncertain Clinical Significance