Monosomy 5/deletion 5q by FISH : 1003127

Test Code
MDFCPCMONO5 or 1003127

Alias/See Also
EGR1; 5q-; -7

CPT Codes
88271x2, 88275

Instructions
Bone Marrow aspirate in a green top sodium heparin tube (2-3 mL) or Peripheral Blood in a green top sodium heparin tube (2-10 mL).

Transport Container
Blood or Bone Marrow: Do not centrifuge.

Transport Temperature
Blood or Bone Marrow: Ambient temperature within 24 hours. Specimen can be refrigerated if not transported immediately. Do not freeze. Protect from heat with a cold pack.

Specimen Stability
Blood and Bone Marrow: Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable

Methodology
Fluorescence in situ hybridization (FISH)

Setup Schedule
Monday - Friday

Report Available
Up to 7 days

Limitations
Laboratory test results should always be considered in the context of clinical observations. This test was developed and its performance characteristics determined by med fusion. It has not been cleared or approved by the U.S. Food and Drug Administration
(FDA). The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments
of 1988 (CLIA) as qualified to perform high complexity clinical laboratory testing.

Reference Range
An interpretive report will be provided.

Clinical Significance
As the sole cytogenetic abnormality, del(5q) is most often seen in a subtype of myelodysplastic syndrome (MDS with isolated del(5q). The patients are usually older females with macrocytic anemia, normal to elevated platelets and morphologic abnormalities of the megakaryocytic lineage. MDS with isolated del(5q) is responsive to therapy with Lenalidomide and has a good prognosis. A putative gene located in the commonly deleted region 5q31-33, RPS14, has been identified by RNA interference screening. Although one copy of the normal allele is preserved in these cases, oncogenesis is thought to be related to haploinsufficiency. It should be noted that the isolated 5q deletion is not 100% restricted to the specific type of MDS, but can be seen in the rare cases of MPD, MDS/MPD, AML, malignant lymphoma and plasma cell myeloma.
Deletion 5q, in conjunction with other cytogenetic abnormalities, is seen in MDS and AML, predominantly in therapy related cases. These patients have a poor prognosis.

Performing Laboratory
med fusion



The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.