Mayo Clinic Laboratories > Oncology > Sarcoma > Single-Gene Testing

Single-gene testing

Accurate identification of genetic abnormalities

In cases where comprehensive NGS analysis cannot be performed or the diagnosis is highly suspect, we offer a variety of single-gene fluorescence in situ hybridization (FISH) tests to identify common genetic rearrangements in the genes EWSR1, USP6, TFE3, PDGFB, SS18, SYT, FUS, DDIT3, CHOP, FOXO1, FKHR, NR4A3, ETV6, ALK, and others.

In some cases, the genetic abnormality may be something other than a fusion, and testing is available to support these cases. One such abnormality is the ring and giant rod chromosomes derived from amplified sequences of chromosome bands 12q13-15, which include several amplified genes such as MDM2, CPM, CDK4, and TSPAN31. 

Single-gene test menu

Single-gene testing

Key testing

Advantages

  • Specifically useful for diagnosing well-differentiated liposarcomas.
  • May be useful in a small subset of low-grade osteosarcomas.

Highlights

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