Tests By Type
|
Ref # |
Test Type |
Test Name |
CPT code |
Includes |
Description |
Clinical Significance |
Normal Ranges |
Specimen |
|
1 |
FISH |
ALK Gene t(2;5) and variants |
88271 (2), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
ALK-1 The ALK (Anaplastic Lymphoma
Kinase) probe detects the known 2p23
rearrangements that occur in t(2;5) and
its variants. The t(2;5) has been shown
to fuse the nucleophosmin (NPM) gene
located on chromosome 5q35 with the gene
on chromosome 2p23.2. This NPM/ALK gene
fusion gives rise to a chimeric protein
that is overexpressed in many of these
cases. In addition to the t(2;5), all
ALK rearrangements can be detected. |
Anaplastic large cell lymphoma shows
ALK1 rearrangements in the majority of
cases. |
<5% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh
tissue, Archival Tissue |
|
2 |
FISH |
AML / ETO t(8;21) |
88271 (2), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
The AML1/ETO translocation probe is
designed to detect the juxtaposition of
the AML1 gene locus on chromosome 21q22
with the ETO gene locus on chromosome.
The 8;21 translocation event produces a
fusion of the two genes on the
derivative 8 chromosome that results in
the novel chimeric gene, AML1/ETO.
Variant translocations involving
chromosomes 8 and 21 also exist and can
be missed in an unusual or complex
karyotype. |
The AML1-ETO fusion transcript is
present in some cases of the FAB-M2
subtype of acute myelogenous leukemia
(AML). This transcript results from a
translocation involving the AML1 gene on
chromosome 21 and the ETO (or MTG8) gene
on chromosome 8. The t(8;21) is found in
nearly 7 percent of de novo AML and is
more common in younger patients. It is
found in 20-40 percent of AML-M2 subtype
cases. It is clinically important to
assess leukemia cases for the presence
of the t(8;21), because it is associated
with a relatively good prognosis and
good response to certain therapeutic
agents. This test is useful for the
diagnosis of a subset of acute
myelogenous leukemia, called AML-M2. The
presence of the t(8;21) transcript
defines a subgroup of AMLs with a
favorable prognosis. |
<4.25% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
4 |
FISH |
B Cell / IgH (JH) Heavy Chain
|
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Translocations of the immunoglobulin
heavy chain locus (IGH) located at 14q32
are frequently observed in patients with
various hematological disorders. These
IGH translocations result in the
up-regulation of oncogenes due to the
juxtaposition of IGH enhancers with
these oncogenes. |
Rearrangement in 14q32/IgH are common in
NHL and othe rB-cell malignancies. It
suggests partnering of IgH with other
chromosome |
<3.3% igH intact (igHx2) |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
7 |
FISH |
BCL1 t(11;14) |
88271 (2), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
BCL-1 The IGH/CCND1 translocation probe
is designed to detect the juxtaposition
of the immunoglobulin heavy chain (IGH)
locus and the Cyclin D1 gene
(CCND1).used to identify gene
rearrangements usually associated with
mantle cell lymphoma. This translocation
can also be found in B-promyelocytic
leukemia (10-20%), plasma cell leukemia,
splenic lymphoma with villous
lymphocytes, chronic lymphocytic
leukemia (2-5%), and in multiple myeloma
(20-25%). May be used diagnostically and
prognostically as well as for treatment
selection and monitoring disease
recurrence. |
Presence of IgH-CCND1 [t(11;14)]
translocation is strongly supportive of
a diagnosis of mantle cell lymphoma. A
negative result does not rule out mantle
cell lymphoma, since a small percentage
of patients may have alternative
translocations leading to development of
mantle cell lymphoma. |
<10.81% no rearrangement |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh
tissue, archival tissue |
|
9 |
FISH |
BCL-1 XT |
88271 (2), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
The IGH/BCL-1 XT translocation probe is
designed to detect the juxtaposition of
the immunoglobulin heavy chain (IGH)
locus and the Cyclin D1 gene (BCL 1 XT).
used to identify gene rearrangements
usually associated with multiple
myeloma. This probe is more specific for
myeloma-associated t(11;14) fusions
versus CCND1. |
Presence of IgH-CCND1 [t(11;14)]
translocation is strongly supportive of
a diagnosis of mantle cell lymphoma. A
negative result does not rule out mantle
cell lymphoma, since a small percentage
of patients may have alternative
translocations leading to development of
mantle cell lymphoma. |
<10.81% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
10 |
FISH |
BCL2 t(14;18) |
88271 (2), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
FISH for BCL2 is designed to detect the
juxtaposition of immunoglobulin heavy
chain (IGH) locus and BCL gene
sequences. The translocation involving
IGH at 14q32 and BCL2 at 18q21,
t(14;18)(q32;q21) is common. Relocation
of an IGH transcriptional enhancer next
to the BCL2 gene as a result of the
t(14;18) translocation is thought to
cause constitutive over-expression of
the anti-apoptotic BCL2 protein. |
Approximately 95 percent of cases of
follicular lymphoma harbor the t(14;18),
which juxtaposes the bcl-2 gene to the
immunoglobulin heavy chain gene.
Detection of this translocation in high
copy is supportive of a diagnosis of
follicular lymphoma. A quantitative
assay is useful in monitoring minimal
residual disease and genetic recurrence.
|
<9.71% negative |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh
tissue, lymph node |
|
12 |
FISH |
BCL6 / 3q27 rearrangements |
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
BCL-6 The BCL6 probe provides a simple
and rapid method of detecting chromosome
breaks associated with a number of
different translocations that involve
the BCL6 gene located on chromosome
3e3q27 |
BCL6 rearrangements are associated with
DLBCL. |
<5% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
13 |
FISH |
BCR / ABL t(9;22) -- with 9q34 (ASS) -- |
88271 (3), 88275 (1), 88291 (1) |
Probe hybridization, Analysis, &
Interpretation |
BCR/ABL t(9;22) Found in 90-95% of all
CML, FISH is the recommended tool used
for diagnosis of CML or the initial
Philidelphia chromosome detection.The
BCR/ABL translocation is found in 90-95%
of all chronic myelogenous leukemias
(CML) patients and 30% of acute
lymphocytic leukemias (ALL) cases. The
presence of the Philadelphia chromosome
can be used to diagnose CML and to
assess the prognosis. It may also be
used to predict disease remission and
relapse and to monitor therapeutic
response to Gleevac. The addition of
9q34/ASS to the probe cocktail ensures
that all variant BCR/ABL rearrangements
are detected. Deletions in 9q34 may
adversely impact identification of a
t(9;22). |
Generally, the bcr/abl fusion transcript
is found in chronic myelogenous leukemia
(CML) and a distinct subset of acute
lymphoblastic leukemia (ALL).
|
<9.72% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
89 |
FISH |
Brain neoplasm – (1p,1q,19p, 19q, PTEN)
Oligodendrogliomas |
88271 (3), 88275 (3), 88291 (1) |
Probe, Analysis, & Interpretation |
Oligodendrogliomas are frequently
associated with deletions in 1p, 19,
and/or PTEN/10q. FISH is performed on
tissue sections from the tumor and the
tissue is evaluated for copy number of
targeted loci. Patients with deletions
of targeted loci have a less favorable
prognosis. |
Results of the 1p and 19q FISH analysis
are intended for use as a diagnostic and
prognostic marker for oligodendroglioma.
Patients with 1p and 19q deletions have
a better prognosis than those patients
that do not have 1p and 19q deletions.
Malignant gliomas are the most common
type of primary brain tumor. They have
been histologically classified as
astrocytomas, oligodendrogliomas, and
mixed gliomas. The relative incidence of
the diagnosis of oligodendroglioma and
astrocytoma varies widely between
institutions indicating that diagnostic
criteria differ and/or are difficult to
apply. Because separation of
astrocytomas from oligodendrogliomas has
prognostic and therapeutic importance,
reproducible and definitive criteria are
needed for their separation. Multiple
studies have shown that the loss of
chromosomal arms 1p and 19q is
characteristic of oligodendrogliomas.
Moreover, loss of 1p may identify
treatment-sensitive malignant gliomas
including subtypes of anaplastic
oligodendroglioma. Demonstration of the
combined loss of the short arm of
chromosome 1 (1p) and the long arm of
chromosomes 19 (19q) is considered
diagnostic of oligodendrogliomas. While
the presence of the combined loss of
these chromosomal arms indicates the
presence of an oligodendroglioma, not
all oligodendrogliomas necessarily show
these chromosomal changes. Hence, the
finding of a combined loss of 1p and 19q
establishes the diagnosis of
oligodendroglioma. Absence of such loss
does not exclude the diagnosis of
oligodendroglioma. Additionally, 1p loss
appears to identify treatment sensitive
malignant gliomas including rare
glioblastomas. Unfortunately, 1p loss
does not identify all chemosensitive
anaplastic oligodendrogliomas and not
all patients whose tumors show 1p loss
have long survival. Patients with
chromosome 1p and 19q loss appear to
have a particularly favorable prognosis.
|
<5% NORMAL DELETION / NORMAL COPY FF |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
16 |
FISH |
Burkitt- MYC variant translocations
|
88271 (4), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Variant MYC translocations t(2;8),
t(8;22) and t(8;14) will be detected |
Burkitt lymphoma is strongly associated
with a specific translocation, the
t(8;14)(q24;q32), which juxtaposes the
immunoglobulin heavy chain and the MYC
gene. Alternately variant translocations
can be observed: t(2;8) and t(8;22).
|
<4.86% myc not rearranged (mycx2) |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
17 |
FISH |
Burkitt- t(8;14) IGH / MYC |
88271 (2), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
IGH / MYC t(8;14) Found in 90-95% of all
Burkitt leukemia / lymphoma. |
Burkitt lymphoma is strongly associated
with a specific translocation, the
t(8;14)(q24;q32), which juxtaposes the
immunoglobulin heavy chain and the MYC
gene. Alternately variant translocations
can be observed: t(2;8) and t(8;22).
|
<4.09% no re-arrangement |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
38 |
FISH |
CHIC2 / FIP1L1 / PDGFRa (4q12) |
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Deletion in FIP1L1/PDGFRa are linked to
HES and SMCD |
Tests for the FIP1L1-PDGFRA deletion.
Commonly associated with
myeloproliferative syndromes such as
hypereosinophilic syndrome,
hypereosinophilia, mast cell disease,
and mastocytosis. -- HES and SMCP |
<5% 4q12x2 - normal copy # |
Cytogenetic prep |
|
19 |
FISH |
Chimerism (post-transplant sex-mismatch)
|
88271 (2), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
After a bone marrow transplant, the CEP
X/Y probe can be used to assess the
proportion of donor cells versus
recipient cells when there is a sex
mismatch to evaluate engraftment, detect
the presence of clonal neoplasms and
determine disease recurrence.
|
Bone Marrow typing post transplant-
Transplant Evaluation |
donor vs recipient XX or XY |
Peripheral Blood, Bone Marrow asp,
Cytogenetic prep |
|
20 |
FISH |
CHOP (12q13) (CEBP) |
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
12q13 rearrangements involving soft
tissue sarcomas, liposarcomas |
12q13/CHOP rearrangements are frequent
in soft tissue sarcomas. Tests diagnosis
of tumor. |
<5% no rearrangement |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
21 |
FISH |
Chromosome 16 Inversion (CBF B/MYH) |
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
The CBFB (Core Binding Factor
Beta-subunit) Dual Color, Break Apart
Rearrangement Probe is designed to
detect a inv(16)(p13;q22) and related
t(16;16)(p13;q22).The inversion of
chromosome 16 is found in the AML-M4
subtype of acute myelocytic leukemias
(AML). It represents 7-10% of all new
AML cases and more than 90% of the M4
subtype. Used predominately as a
diagnostic tool but may also be used to
predict disease remission or relapse. |
inv(16) are associated with AML-M4Eo |
<4.18% intact |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
23 |
FISH |
Chromosome Enumeration 1-22 |
88271 (1), 88273* (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Chromosome enumeration probes (CEPs) are
chromosome-specific FISH probes that
hybridize to highly repetitive human
satellite DNA sequences, usually located
near centromeres. CEPs are used commonly
to study polar bodies, blastomeres,
prenatal samples, tumors and hematologic
malignancies. |
|
<4.23% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
24 |
FISH |
Chromosome Enumeration XY |
88271 (2), 88273* (1), 88291 (1) |
Probe, Analysis, & Interpretation |
After a bone marrow transplant, the CEP
X/Y probe can be used to assess the
proportion of donor cells versus
recipient cells when there is a sex
mismatch to evaluate engraftment, detect
the presence of clonal neoplasms and
determine disease recurrence. |
|
<4.23% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
25 |
FISH |
CLL |
88271 (5), 88275 (2), 88291 (1) |
Probe, Analysis, & Interpretation |
B-CLL shows specific abnormalities
linked to prognosis: trisomy 12,
del(13q), del(11q23)/ATM, del(17p)/p53 |
FISH testing for CLL is indicated in
individuals who have been diagnosed with
CLL by clinical criteria based on a
lymphocytosis of greater than 5 x 109
cells/l with greater than 50 percent
mature-appearing lymphocytes, as well as
the characteristic immunophenotype of
CD5, CD19, CD20, and CD23 expression,
monoclonal kappa or lambda expression,
and dim surface immunoglobin expression.
FISH testing serves as a screen to
prognostically stratify the risk of CLL
patients. In addition, this FISH test
can further confirm the diagnosis of
CLL. |
<4.69% normal copy # |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
90 |
FISH |
Epidermal Growth Factor Receptor (EGFR)
IHC – FISH |
88275(1), 88271 (1), 88291 (1), 88358
(1), 88342 (1) |
Analysis, DNA Probe, Interpretation,
Morphometric Analysis,
Immunocytochemistry |
EGFR abnormalities are associated with
colorectal cancer. The EGFR status of
tumor tissue is used to allow patient
eligibility for EGFR-directed therapies
(i.e. Erbitux). Testing is performed on
tissue sections of the tumor using
monoclonal antibodies for EGFR and
evaluated by quantitative
immunohistochemical analysis. FISH
analysis for EGFR copy
number/amplification is performed
simultaneously on representative
sections from the tumor. |
EGFR pharmDx™ is indicated as an aid in
identifying colorectal cancer in
patients eligible for treatment with
ERBITUX™ (cetuximab). FISH for EGFR is
used to assess risk. A result of
nonamplified for the EGFR proto-oncogene
may suggest a favorable prognosis. An
amplified result ( >2.0) may be
considered a poor prognostic indicator
and may be associated with decreased
disease-free survival and overall
survival. |
|
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
35 |
FISH |
ETV6 (12p) |
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
ETV6/TEL (12p13) -- The ETV6 probe
provides a simple and rapid method of
detecting chromosome breaks associated
with a number of different
translocations that involve the ETV6
gene located on chromosome 12. |
The t(12;21) identifies a subgroup of
precursor B-ALLs with relatively
favorable prognosis, and it is important
in the diagnosis of that category of
leukemia. t(12;21) is usually detected
in infants or early childhood and is
seen in precursor B-cell immunophenotype.
Rapid and accurate diagnosis is
essential for guiding the choice of
therapy. Classical cytogenetic studies
cannot detect this translocation.
However, FISH can accurately detect this
translocation. |
<5% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
98 |
FISH |
EWS Ewing Sarcoma |
88271(2), 88275(1), 88291(1) |
Probe, Analysis, & Interpretation |
FISH analysis for the t(11;22) and
variant 22q12 translocations used in the
diagnosis of Ewing sarcoma. |
Ewing's sarcoma is one of several small
cell malignancies occurring in childhood
and must be distinguished from lymphoma,
neuroblastoma, and rhabdomyosarcoma.
While immunohistochemical staining
methods can often distinguish between
these neoplasms, some examples of
Ewing's sarcoma will give equivocal
results requiring further testing to
definitively establish the diagnosis.
Ewing's sarcoma is an important
malignancy occurring in children.
Separation from other small cell
malignancies of childhood is very
important because specific
chemotherapeutic protocols exist for the
different neoplasms and optimal therapy
depends on accurate classification.
Identification of chromosome 22 (EWSR1)
rearrangements is highly specific and
sensitive for the diagnosis of Ewing's
sarcoma. This FISH assay detects
rearrangements of the EWSR1 gene region
in chromosome 22q12 in material obtained
from paraffin blocks. The assay uses a
dual color probe mixture to a unique DNA
sequence on chromosome 22q12. Tumors
showing 25 percent or more break-apart
rearrangements are consistent with a
member of the Ewing's family of
neoplasms. The FISH probe for
rearrangements in chromosome 22q12
(break-aparts) is useful in the
differential diagnosis of small cell
neoplasms. Neoplasms showing
rearrangements in the EWSR1 gene are
most consistent with members of the
Ewing's family of neoplasms.
|
> 25%: Positive for EWSR1 gene
translocation < 25%: Negative for EWSR1
gene translocation |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
39 |
FISH |
FKHR (13q14) t(2;13)/t(1;13) |
88271 (3), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Identifies major translocations in
alveolar rhabdomyosarcoma |
Rhabdomyosarcomas are the most common
childhood soft tissue malignancy,
accounting for 60 percent of soft tissue
sarcoma cases among children younger
than five years of age. The incidence
decreases with age, with
rhabdomyosarcoma accounting for only 25
percent of soft tissue sarcomas in 15-19
year olds. Histologically,
rhabdomyosarcomas are divided into two
major categories: embryonal and
alveolar. The alveolar subtype accounts
for one-fourth of cases and has a worse
prognosis than the embryonal subtype.
Alveolar rhabdomyosarcoma (ARMS) is
associated with two chromosomal
translocations that are specific for the
disease. A t(2;13)(q35;q14)
translocation juxtaposes the PAX3 gene
with the FKHR gene in approximately 55
percent of cases, whereas a less common
t(1;13)(p36;q14) translocation fuses the
PAX7 gene with the FKHR gene in about 22
percent of cases. The resulting fusion
genes are novel transcription factors
with oncogenic activity. |
<5% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
43 |
FISH |
HER-2 / NEU Gene Amplification
|
88367 (2) |
Probe Hybridization, Analysis,
Morphometric Analysis, & Interpretation |
The PathVysion HER-2 DNA Probe Kit is
designed to detect amplification of the
HER-2/neu gene via fluorescence in situ
hybridization (FISH) in human breast
cancer tissue specimens. Results from
the PathVysion HER-2 DNA Probe Kit are
intended for use as an adjunct to
existing clinical and pathologic
information currently used as prognostic
factors in stage II, node-positive
breast cancer patients. The PathVysion
HER-2 DNA Probe Kit is further indicated
as an aid to predict disease-free and
overall survival patients with stage II
node-positive breast cancer treated with
adjuvant cyclophosphamide, doxorubicin
and 5-fluorouracil (CAF) chemotherapy. |
The determination of the presence of
amplification for the HER-2/neu oncogene
is based on the counting of
immunofluorescent signals for LSI®HER-2/neu
and CEP®17 contained within the
interphase nuclei of invasive carcinoma
cells. Manufacturer's guidelines for
nonamplified and amplified cells are
based on enumeration of 20 interphase
nuclei from tumor cells per target
reported as the ratio of average HER-2/neu
copy number to that of CEP®17.
|
<2.0 |
Paraffin embedded tissue |
|
47 |
FISH |
Lung Cancer - 1 - Panel |
88271 (4), 88274 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Lung Cancer- A Multi-color Probe is
designed to detect and quantify copy
number of the epidermal growth factor
receptor (EGFR) gene (7p12), the C-MYC
gene (8q24), chromosome 5 (5p15.2) and
chromosome 6. |
|
<5% |
Peripheral Blood, Bone Marrow, asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
48 |
FISH |
MALT1 t(11;18) q32q21 |
88271 (2), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Chromosome rearrangements involving the
MALT1 (Mucosa associated lymphoid tissue
1) gene on chromosome 18q21 have been
observed in several types of lymphoma. |
The chromosomal translocation t(11;18)
or api2-mlt1 gene rearrangement is
present in 40-50% of patients with
MALT-type lymphomas of the stomach.
Since most api2-mlt1 breakpoints cluster
at a common breakpoint, this FISH assay
is capable of detecting most of
api2-mlt1 gene rearrangements. However,
some breakpoints occur at other loci and
will not be identified by this
particular test. |
<5% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
51 |
FISH |
Microdeletion syndromes- DiGeorge
(22q11.2) |
88271 (1), 88273 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
22q11.2 deletion (DiGeorge syndrome
critical region) |
|
<1 |
Metaphase prep |
|
52 |
FISH |
Microdeletion syndromes- Kallman
(Xp22.3) |
88271 (1), 88273 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Xp22.3 deletion (Kallman syndrome) |
Xp22.3 deletion (Kallman syndrome) |
<1 |
Metaphase prep |
|
53 |
FISH |
Microdeletion syndromes- Miller / Dieker
/ Lissencephaly (17p13.3) |
88271 (1), 88273 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
17p13.3 deletion (Miller-Dieker) |
17p13.3 deletion (Miller-Dieker) |
<1 |
Metaphase prep |
|
50 |
FISH |
Microdeletion syndromes- p53 Gene
(17q13.1) |
88271 (1), 88273 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
The p53 Probe maps to the 17p13.1 region
on chromosome 17 containing the p53
gene. In some malignancies, a mutation
of one p53 gene allele is accompanied by
a deletion of other alleles and results
in the absence of wild-type p53 protein.
Monoallelic deletion of p53 (as
determined by FISH) is common in many
disorders. Loss of heterozygosity of p53
has been identified in many tumors. |
The p53 Probe maps to the 17p13.1 region
on chromosome 17 containing the p53
gene. In some malignancies, a mutation
of one p53 gene allele is accompanied by
a deletion of other alleles and results
in the absence of wild-type p53 protein.
Monoallelic delet |
<1 |
Metaphase prep |
|
49 |
FISH |
Microdeletion syndromes- RB1 Gene
(13q14) |
88271 (1), 88273 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
The 13 (RB1) 13q14 Probe contains unique
DNA sequences specific to the RB1 gene
within the 13q14 region of chromosome
13. This probe may be used to detect
deletion (not mutation) of the RB1 gene
locus. |
The 13 (RB1) 13q14 Probe contains unique
DNA sequences specific to the RB1 gene
within the 13q14 region of chromosome
13. This probe may be used to detect
deletion (not mutation) of the RB1 gene
locus. |
<1 |
Metaphase prep |
|
57 |
FISH |
Microdeletion syndromes- Smith-Magenis
(17p11.2) |
88271 (1), 88273 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
17p11.2 deletion (Smith-Magenis) |
17p11.2 deletion (Smith-Magenis) |
<1 |
Metaphase prep |
|
54 |
FISH |
Microdeletion syndromes- SRY (Yp/PAR) |
88271 (1), 88273 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Yp deletions (pseudoautosomal region)
|
Yp deletions (pseudoautosomal region)
|
<1 |
Metaphase prep |
|
55 |
FISH |
Microdeletion syndromes- Steroid
sulfatase (STS) (Xp22.3) |
88271 (1), 88273 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Xp22.3 deletion (Steroid sulfatase
deficiency syndrome) |
Xp22.3 deletion (Steroid sulfatase
deficiency syndrome) |
<1 |
Metaphase prep |
|
91 |
FISH |
Microdeletion syndromes- Williams
syndrome (7q11.23) |
88271 (1), 88273 (1), 88291 (1) |
Probe hybridization, analysis, and
interpretation |
7q11.23 microdeletion diagnostic of
Williams syndrome. |
7q11.23 microdeletion diagnostic of
Williams syndrome. |
<1 |
Metaphase prep |
|
56 |
FISH |
Microdeletion syndromes- Wolf-Hirschhorn
(4p16.3) |
88271 (1), 88273 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
4p16.3 deletion (Wolf-Hirschhorn
syndrome) |
4p16.3 deletion (Wolf-Hirschhorn
syndrome) |
<1 |
Metaphase prep |
|
58 |
FISH |
MLL (Mixed Lineage Leukemia)
|
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
The MLL probe detects 11q23
rearrangements associated with various
translocations involving the MLL gene.
Translocations disrupting the MLL
(ALL-1, HRX) gene are among the most
common cytogenetic abnormalities
observed in hematopoietic malignancies.
Although over 30 variant translocations
have been seen involving MLL
translocations, the most common
abnormalities are t(4;11)(q21;q23),
t(9;11)(p22;q23) and t(11;19)(q23;p13). |
The translocation t(4;11)(q21;q23) is
one of the most frequent 11q23
abnormalities associated with infant
leukemia as well as topoisomerase
inhibitor-induced secondary leukemias.
On the molecular level, the MLL gene on
11q23 is fused to the AF4 gene in the
4q21 region, resulting in chimeric
MLL-AF4 [t(4;11)] fusion transcripts.
These particular chromosomal
rearrangements are generally considered
to be associated with poor prognosis;
therefore, accurate detection at
diagnosis is of clinical significance.
|
<4.02% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
60 |
FISH |
Multiple Myeloma Panel (Screen) |
88271 (11), 88275 (6), 88291 (1) |
Probe Hybridization, Analysis, &
Interpretation |
A multicolor FISH probe cocktail is used
to detect: •ATM/p53. The ATM probe
detects the 11q22.3 region of chromosome
11, which includes the entire Ataxia
telangiectasia-mutated gene (ATM). The
p53 Probe maps to the 17p13.1 region on
chromosome 17 containing the p53 gene.
In some malignancies, a mutation of one
p53 gene allele is accompanied by a
deletion of other alleles and results in
the absence of wild-type p53 protein.
Monoallelic deletion of p53 (as
determined by FISH) is common in many
disorders. Loss of heterozygosity of p53
has been identified in many tumors.
D13S319/13q34/CEP12 This probe set
contains D13S319, which is one of three
probes for detection of the 13q14.3
region, 13q34 which detects a region
near the subtelomere of chromosome 13q,
and CEP 12, which detects the alpha
satellite, centromeric region of
chromosome 12 •IGH/BCL-1XT.
Translocations of the immunoglobulin
heavy chain locus (IGH) located at 14q32
are frequently observed in patients with
various hematological disorders. These
IGH translocations result in the
up-regulation of oncogenes due to the
juxtaposition of IGH enhancers with
these oncogenes. •IGH/FGFR3
Translocations of the immunoglobulin
heavy chain locus (IGH) located at 14q32
are frequently observed in patients with
various hematological disorders. These
IGH translocations result in the
up-regulation of oncogenes due to the
juxtaposition of IGH enhancers with
these oncogenes.
•D5S23/D5S271/CEP9/CEP15 Hyperdiploidy
of chromosome 5, chromosome 9 and
chromosome 15 has frequently been
observed in hematological disorders,
including multiple myeloma.•IGH/MAF
Translocations of the immunoglobulin
heavy chain locus (IGH) located at 14q32
are frequently observed in patients with
various hematological disorders. These
IGH translocations result in the
upregulation of onco-genes due to the
juxtaposition of IGH enhancers with
these oncogenes. |
FISH testing for MM is indicated in
individuals who have been diagnosed with
MM based on bone marrow (BM) cell
characteristics of morphology,
cytochemical staining, and
immunophenotype. FISH testing serves as
a screen to prognostically stratify the
risk of MM patients. In addition, this
FISH test can further confirm the
diagnosis of MM. |
ATM/p53 <4.69%, D13 <2.43%, IGH <3.3%,
D5/9/15 <4.5% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
92 |
FISH |
Multiple Myeloma Panel (Comprehensive) |
88271 (11), 88275 (6), 88291 (1) |
Probe hybridization, analysis, and
interpretation |
A multicolor FISH probe cocktail is used
to detect: •ATM/p53 The ATM probe
detects the 11q22.3 region of chromosome
11, which includes the entire Ataxia
telangiectasia-mutated gene (ATM). The
p53 Probe maps to the 17p13.1 region on
chromosome 17 containing the p53 gene.
In some malignancies, a mutation of one
p53 gene allele is accompanied by a
deletion of other alleles and results in
the absence of wild-type p53 protein.
Monoallelic deletion of p53 (as
determined by FISH) is common in many
disorders. Loss of heterozygosity of p53
has been identified in many tumors.
D13S319/13q34/CEP12 This probe set
contains D13S319, which is one of three
probes for detection of the 13q14.3
region, 13q34 which detects a region
near the subtelomere of chromosome 13q,
and CEP 12, which detects the alpha
satellite, centromeric region of
chromosome 12 •IGH/BCL-1XT
Translocations of the immunoglobulin
heavy chain locus (IGH) located at 14q32
are frequently observed in patients with
various hematological disorders. These
IGH translocations result in the
up-regulation of oncogenes due to the
juxtaposition of IGH enhancers with
these oncogenes. •IGH/FGFR3
Translocations of the immunoglobulin
heavy chain locus (IGH) located at 14q32
are frequently observed in patients with
various hematological disorders. These
IGH translocations result in the
up-regulation of oncogenes due to the
juxtaposition of IGH enhancers with
these oncogenes.
•D5S23/D5S271/CEP9/CEP15 Hyperdiploidy
of chromosome 5, chromosome 9 and
chromosome 15 has frequently been
observed in hematological disorders,
including multiple myeloma.•IGH/MAF
Translocations of the immunoglobulin
heavy chain locus (IGH) located at 14q32
are frequently observed in patients with
various hematological disorders. These
IGH translocations result in the
upregulation of onco-genes due to the
juxtaposition of IGH enhancers with
these oncogenes. |
FISH testing for MM is indicated in
individuals who have been diagnosed with
MM based on bone marrow (BM) cell
characteristics of morphology,
cytochemical staining, and
immunophenotype. FISH testing serves as
a screen to prognostically stratify the
risk of MM patients. In addition, this
FISH test can further confirm the
diagnosis of MM. |
|
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
61 |
FISH |
MYC Gene t(8;14) |
88271 (3), 88275 (2), 88291 (1) |
Probe hybridization, analysis, and
interpretation |
The translocation t(8;14) (q24;q32)
involving IGH at 14q32 and the MYC
region at 8q24, is the most frequently
observed MYC region translocation. The
t(8;14) and variant MYC translocations
are diagnostic of Burkitt
leukemia/lymphoma. |
|
<4.09% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
62 |
FISH |
Myelodysplasia (5/5q, 7/7q8, 20q) |
88271 (4), 88275 (4), 88291 (1) - female
88271 (6), 88275 (5), 88291 (1) - male |
Probe, Analysis, & Interpretation |
Using a multicolor probe cocktail, FISH
detects abnormalities linked to
myelodysplasia, including -5/5q-,
-7/7q-, trisomy 8, and 20q-.
|
|
7p/7q <1.89%, CEP8 <4.83%, D20 <3.65%,
EGR-1 <3.61% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
93 |
FISH |
N-MYC Neuroblastoma |
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
N-MYC is amplified in the majority of
cases of neuroblastoma. |
|
<5% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
94 |
FISH |
NUP98 – (11p15) T-ALL, AML, CML, MDS |
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
FISH for 11p15 deletions are
instrumental in the genetic etiology of
hematologic malignancies. |
|
<5% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
63 |
FISH |
Platelet Derived Growth Factor Receptor-
beta t(5;12) (PDGFR) |
83890 (1), 83894 (2), 83902 (1), 83898
(3), 83912 (1), 83901 (1) |
Extraction, Gel Electrophoresis, Reverse
Transcription, Multiplex,
Amplification/Primer, & Interpretation |
Detects the most common rearrangement in
platelet derived growth factor receptor-
beta. |
Test for the 5;12 Translocation seen in
Chronic Myelomonocytic Leukemia (CMML),
CMML with hypereosinophilia |
|
|
|
65 |
FISH |
PML / RARA t(15;17) |
88271 (2), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
PML-RARA gene rearrangement t(15;17) by
FISH, AML-M3 The PML-RARA translocation
is found in acute promyelocytic
leukemias (APL), which represents 10% of
all acute myeloid leukemias. This test
is primarily used as a diagnostic tool
but may also be used to detect minimum
residual disease, or to predict
remission or detect relapse. It may be
used to monitor therapeutic response to
all-trans retinoic acid (ATRA). |
Acute promyelocytic leukemia (APL) is a
distinctive form of acute myelogenous
leukemia (AML). It accounts for
approximately ten percent of AML and is
characterized by a proliferation of
malignant promyelocytes in the bone
marrow, often with a discrepant
leukopenic peripheral blood smear. APL
is classified as AML or as M3 in the FAB
scheme for acute leukemias. Patients
with APL have distinctive clinical
features. These individuals are
generally younger than the typical AML
patient, have a better prognosis, and
almost always have disseminated
intravascular coagulation (DIC). This
coagulopathy becomes more severe with
chemotherapy and may lead to patient
demise during treatment. Therefore,
proper subclassification of acute
leukemia as APL is critical for optimal
patient management (i.e., to alert the
clinician that there is a significant
risk of DIC). In addition, alternative
strategies are used by
hematologists/oncologists to treat APL.
Specifically, all-trans retinoic acid (ATRA),
a relatively non-toxic agent, permits
myeloid differentiation of the leukemic
promyelocytes and is used as a
first-line agent in the treatment of
this entity; this is followed by
standard chemotherapy. In summary,
immediate patient survival and important
clinical decisions are based on accurate
diagnosis of APL. Cytogenetic and
molecular tests can be used to establish
a definitive diagnosis of APL. There is
a strong association of t(15;17), and
its molecular equivalent PML/RARa gene
rearrangement, with this subtype of AML.
In fact, the utility of ATRA therapy is
based on changes induced in the retinoic
acid receptor a (RARa) gene by this
translocation. Moreover, the response to
ATRA in patients with AAPL is directly
related to the presence of PML/RARa gene
rearrangement (i.e., some AML -- M3
classified in the FAB scheme -- do not
have this molecular characteristic and
have no response to ATRA). Therefore,
the molecular definition of APL appears
to have more clinical relevance than the
morphologic one. Cytogenetic analysis is
capable of detecting t(15;17) in many
cases of APL; however, up to 30 percent
of cases may be negative with this
technique. |
<5.04% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
66 |
FISH |
Prenatal Chromosomes 13,18,21,X,Y
(AneuVysion) |
88271 (5), 88274 (2), 88291 (1) |
Probe, Analysis, & Interpretation |
AneuVysion (13, 18, 21, X and Y). Rapid
detection of common fetal trisomies and
sex chromosome aneusomies is especially
important in high risk pregnancies and
medically indicated situations. |
Fluorescence in situ hybridization
(FISH) is performed for aneuploidy of
chromosomes X, Y, 13, 18, and 21. The
FISH analysis does not detect structural
chromosome abnormalities, mosaicism, and
other numerical chromosome abnormalities
(excluding X, Y, 13, 18, and 21). In
addition, false-positive or negative
results, as well as maternal cell
contamination, have been demonstrated in
prenatal FISH analysis. The American
College of Medical Genetics recommends
that irreversible therapeutic action
should not be initiated on the basis of
FISH results alone. |
<8.86% |
Amniotic Fluid, Peripheral Blood,
Products of Conception, Cytogenetic prep |
|
67 |
FISH |
Prostate Cancer Probe Panel (8p, 8q) |
88271 (3), 88275 (1), 88291 (1) |
Probe, Chromosome Analysis, &
Interpretation |
Detects most common chromosomal
abnormalities in prostate cancer,
involving chromosome 8 |
|
<5% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
68 |
FISH |
SIL-TAL (1p) |
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Detects 1p deletions and rearrangements
associated with T-ALL and AML |
|
<5% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
72 |
FISH |
TCF3 (19p13) |
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Detects common rearrangements involving
19p13 in ALL and other acute leukemias
|
Detects common rearrangements involving
19p13 in ALL and other acute leukemias
|
<5% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
73 |
FISH |
TCR a/d (14q11) |
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Detects common rearrangements involving
the T-cell receptor locus on chromosome
14 |
Detects common rearrangements involving
the T-cell receptor locus on chromosome
14 |
|
|
|
74 |
FISH |
Telomeric Regions |
88271 (41), 88273 (15), 88291 (1) |
Probe, Analysis, & Interpretation |
Subtelomeres are known to contain a high
concentration of genes as compared to
other chromosome regions but are
difficult or impossible to detect by
conventional cytogenetics. FISH for
subtelomere abnormalities should be done
when routine cytogenetic analysis are
suspect and for testing family members
of individuals with known telomere
rearrangements. |
Subtelomeres are known to contain a high
concentration of genes as compared to
other chromosome regions but are
difficult or impossible to detect by
conventional cytogenetics. FISH for
subtelomere abnormalities should be done
when routine cytogenetic anal |
<1 |
Peripheral Blood, Cytogenetic prep |
|
95 |
FISH |
TLX3 - (5q) – FISH T-ALL, AML |
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
TLX3 deletions are common in T-cell
acute leukemias. They can also be seen
in AML and other hematologic diseases. |
TLX3 deletions are common in T-cell
acute leukemias. They can also be seen
in AML and other hematologic diseases. |
<5% |
Peripheral Blood, Bone Marrow asp,
Paraffin, Cytogenetic prep, Fresh tissue |
|
96 |
FISH |
Toposiomerase IIA |
88271 (1), 88275 (1), 88291 (1) |
Probe, Analysis, & Interpretation |
Chromosome 17 locus involved in the
etiology of breast cancer. Toposiomerase
IIA abnormalities are associated with a
less favorable prognosis. |
Chromosome 17 locus involved in the
etiology of breast cancer. Topoisomerase
IIA abnormalities are associated with a
less favorable prognosis. |
<5% |
TEST SCHEDULES
