MDSF - Overview: Myelodysplastic Syndrome (MDS), FISH

Test Catalog

Test Name

Test ID: MDSF    
Myelodysplastic Syndrome (MDS), FISH

Useful For Suggests clinical disorders or settings where the test may be helpful

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes or other myeloid malignancies

 

Evaluating specimens in which standard cytogenetic analysis is unsuccessful

 

Identifying and tracking known chromosome abnormalities in patients with myeloid malignancies and tracking response to therapy

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
_I099Interphases, 25-99No, (Bill Only)No
_I300Interphases, >=100 No, (Bill Only)No
_IL25Interphases, <25No, (Bill Only)No
_PADDProbe, +1No, (Bill Only)No
_PB02Probe, +2No, (Bill Only)No
_PB03Probe, +3No, (Bill Only)No
_PBCTProbe, +2No, (Bill Only)No

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.

 

Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

 

See Myelodysplastic Syndrome: Guideline to Diagnosis and Follow-up in Special Instructions.

 

Chromosome analysis is recommended as first-tier testing for this disorder; FISH analysis should be used if chromosome analysis is not successful.

 

Please indicate if the entire panel is to be performed. If the patient is being tracked for known abnormalities, indicate which probes should be used.

 

Panel includes testing for the following abnormalities using the probes listed:

-5/5q-, D5S630/EGR1

-7/7q-, D7S486/D7Z1

+8, D8Z2/MYC

11q23 rearrangement, MLL(KMT2A)

13q-, D13S319/LAMP1

17p-, TP53/D17Z1

20q-, D20S108/20qter

inv(3) or t(3;3), RPN1/MECOM

-When an MLL (KMT2A) rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of t(4;11)(q21;q23) AFF1/MLL, t(6;11)(q27;q23) MLTT4/MLL, t(9;11)(p22;q23) MLLT3/MLL, t(11;16)(q23;p13.3) MLL/CREBBP,  t(11;19)(q23;p13.1) MLL/ELL, or t(11;19)(q23;p13.3) MLL/MLLT1.

-When 3 copies of MECOM are observed with no fusion with RPN1, reflex testing using the MECOM/RUNX1 probe set will be performed to identify a potential t(3;21)(q26.2;q22) rearrangement.

-When 3 copies of RPN1 are observed with no fusion with MECOM, reflex testing using the PRDM16/RPN1 probe set will be performed to identify a potential t(1;3)(p36;q21).

 

If this test is ordered in conjunction with AMLF / Acute Myeloid Leukemia (AML), FISH, then this test will be canceled as a duplicate since these probes are performed as part of the AMLF panel.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Fluorescence In Situ Hybridization (FISH)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

MDS, FISH

Aliases Lists additional common names for a test, as an aid in searching

+8 (trisomy 8)
-5 (monosomy 5)
-7 (monosomy 7)
13q- (13q deletion)
17p- (17p deletion) or TP53
20q- (20q deletion)
5q- (5p deletion)
inversion 3 - inv(3) - RPN1/MECOM or RPN1/EVI1
Isodicentric 20q - idic(20)
Myeloproliferative neoplasms (MPN)
t(1;3)(p36.3;q21.3) - PRDM16/RPN1
t(11;19)(q23;p13.3) - MLL/MLLT1 or MLL/ENL
t(11;16)(q23;p13.3) - MLL/CREBBP
t(3;21)(q26.2;q22) - MECOM/RUNX1or EVI1/AML1
t(3;3)(q21.3;q26.2) - RPN1/MECOM or RPN1/EVI1
t(6;11)(q27;q23) - MLLT4/MLL or AF6/MLL
t(9;11)(p22;q23) - MLLT3/MLL or AF9/MLL
t(4;11)(q21;q23) - AFF1/MLL or AF4/MLL
7q- (7q deletion)
MLL or KMT2A (11q23) rearrangement