National Health System Support Services
Molecular Diagnostics
Request Form (126 Kb)
Cytogenetics/ Human Cancer Genetics Programme
- Contact
- Juan Cruz Cigudosa
+(34) 917 328 000
The Clinical Cytogenetics Laboratory offers metaphase and interphase chromosome analysis. The laboratory aids in the diagnosis, prognosis, and monitoring of hematologic disorders and solid tumors. Our staff is highly specialized and has vast experience in tissue culture, metaphase analysis, and FISH (fluorescence in situ hybridization). This laboratory is also developing new probes for the detection of cancer candidate genes involved in the development and tumor progression.
Tests
-
Conventional Cytogenetics
Indication
Technique used to identify chromosome abnormalities.
Test descriptiona
Identification of chromosome abnormalities (number and structural changes) by GTG-banding karyotype.
-
MML gene rearrangements
Indication
The mml gene translocation is the most common chromosome alteration in childhood acute lymphocytic leukemia (ALL). This translocation is associated with poor prognosis in both childhood ALL and in acute myeloid leukemias.
Test description
Detection of mml gene translocations by fluorescent in-situ hybridization (FISH). At least 15 different chromosomal partners have been involved with the mml gene (also known as ALL1), located in 11q23, in leukemia-producing translocations.
-
t(8;21) translocation or AML1-ETO fusion gene
Indication
The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia, especially in the M2 subtype. Associated with good prognosis.
Test description
Detection of aml1/eto fusion gene or t(8;21)(q22;q22) translocation by fluorescent in-situ hybridization (FISH).
-
t(15;17) translocation or PML-RARA fusion gene
Indication
The t(15;17)(q22;q11.2-q12) translocation is specifically associated with acute promyelocytic leukemia (APL, M3). Used for diagnosis and associated with good prognosis.
Test description
Detection of pml/rara fusion gene, or t(15;17)(q22;q11.2-q12) translocation by fluorescent in-situ hybridization (FISH).
-
INV(16) or MYH11-CBFB fusion gene
Indication
The chromosome 16 inversion is a characteristic of acute myeloid leukemia, most commonly of the M4Eo subtype. Associated with good prognosis.
Test description
Detection of chromosome 16 inversion, inv(16)(p13q22) by fluorescent in-situ hybridization (FISH).
-
MYC gene rearrangements
Indication
The detection of myc oncogene amplification in acute myeloid leukemia M2 is associated with bad prognosis. Several myc translocations are associated with acute lymphocytic leukemia and also indicate poor prognosis. In addition, the detection of myc gene translocations in Burkitt's lymphoma is a diagnostic test.
Test description
Detection of myc gene (8q24.12-q24.13) rearrangements by fluorescent in-situ hybridization (FISH).
-
7q Deletion
Indication
The monosomy 7 or 7q- is the most frequent cytogenetic abnormality (40%) in cases of secondary AML, and in some cases (5%) of de novo AML, and is associated with aggressive disease. In addition, the detection of monosomy 7 or a partial deletion of the long arm of chromosome 7 (7q-) is a frequent cytogenetic finding in de novo, secondary, and constitutional forms myelodysplasia. In all cases this deletion is associated with bad prognosis.
Test description
Detection of of monosomy 7 or a partial deletion of the long arm of chromosome 7 (7q-) by fluorescent in-situ hybridization (FISH).
-
5q Deletion
Indication
The chromosome 5 long arm deletion is the most frequently occurring single chromosome anomaly in secondary leukemia and is associated with poor prognosis. In contrast, as the sole anomaly, 5q- is characteristically found in refractory anemia with or without excess of blasts and indicates a favorable prognosis and a low rate of leukemic transformation. In conjunction with other chromosomal alterations indicates bad prognosis.
Test description
Detection of a partial deletion of the long arm of chromosome 5 by fluorescent in-situ hybridization (FISH).
-
Multiple Aberration Test for CLL
Indication
The 11q22–23 deletion, 17p deletion, trisomy 12, and p53 dysfunction are cytogenetic changes associated with a poor clinical outcome in chronic lymphocytic leukemia. In contrast, the 13q14 deletion is associated with a benign clinical course.
Test description
Detection of trisomy 12 and deletions on 11q22–23 (ATM locus), 13q14, 17p, and p53 by fluorescent in-situ hybridization (FISH).
-
t(12;21) translocation or TEL-AML1 fusion gene
Indication
The t(12;21) translocation is the most common genetic lesion in pediatric acute lymphocytic leukemia (ALL) and defines a subgroup of patients with an excellent prognosis.
Test description
Detection of tel/aml1 fusion gene or t(12;21) translocation by fluorescent in-situ hybridization (FISH).
-
t(9;22) translocation or BCR-ABL fusion gene
Indication
The presence of the t(9;22) translocation or the Philadelphia chromosome is used as a diagnostic test, as it is present in virtually all cases of chronic myeloid leukemia (CML). In addition, this translocation is associated with aggressive disease and poor prognosis in acute lymphocytic leukemia (ALL).
Test description
Detection of bcr/abl fusion gene, t(9;22)(q34;q11) translocation or Philadelphia chromosome by fluorescent in-situ hybridization (FISH).
-
t(14;18) translocation or BCL2-IgH fusion gene
Indication
The presence of the t(14;18) translocation is used as a diagnostic test for follicular lymphoma, and it is also present in some cases of large-cell lymphomas.
Test description
Detection of bcl2/IgH fusion gene or t(14;18)(q32;q21) translocation by fluorescent in-situ hybridization (FISH).
-
t(11;14) translocation or IgH-CCND1 (bcl1) fusion gene
Indication
The presence of the t(11;14) translocation is associated with mantle lymphoma, and is used as a diagnostic test
Test description
Detection of IgH/cyclin D1 (bcl1) fusion gene or t(11;14)(q13;q32) translocation by fluorescent in-situ hybridization (FISH).
-
t(2;5) translocation or NPM-ALK fusion gene
Indication
The presence of the t(2;5) translocation is associated with anaplastic lymphoma; used as diagnostic test.
Test description
Detection of npm/alk fusion gene or t(2;5)(p23;q35) translocation by fluorescent in-situ hybridization (FISH).
-
MALT1 gene rearrangements
Indication
The presence of malt gene translocations on B-cell lymphomas of mucosa-associated lymphoid tissue (MALT1 lymphomas) is associated with poor prognosis.
Test description
Detection of malt gene translocations by fluorescent in-situ hybridization (FISH).
-
p53 deletions
Indication
The presence of p53 gene deletions is detected in multiple types of cancer and is associated with poor prognosis.
Test description
Detection of p53 gene deletions by fluorescent in-situ hybridization (FISH).
-
HER2/NEU Amplification
Indication
her2/neu gene amplifications can be found in invasive breast cancers, uterus, ovarian, endometrial, primary gastric and prostate cancers, and osteosarcoma. This amplification is used as predictor of response to trastuzumab monoclonal antibody therapy in breast cancer.
Test description
Detection of her2/neu gene amplifications by fluorescent in-situ hybridization (FISH).
Specimen Requirements
Timely delivery/notification is essential. Please call for all incoming specimens (917 328 011).
If you need additional information, please contact us +34 912 246 917.
- Peripheral Blood Requirements/Bone Marrow Requirements
- Draw whole blood in sodium heparin tube (green or tan top). Blood: 7-20 ml for adults; Bone marrow: 2-3 ml. The specimen should be delivered within 16 hours of extraction.
- Same day shipments at room temperature.
- Overnight shipments of specimens should be refrigerated.
- Solid Tumor Requirements
Lymph node specimens should not be held overnight.
- Place fresh specimens in sterile saline or in a tube containing Hanks Balanced Salt Solution or PBS and Gentamycin. The tissue should be delivered within 6 hours of removal.
- Same day shipments of fresh solid tumor specimens should be kept at room temperature until shipped.
- Overnight shipments of fresh solid tumor specimens should be refrigerated. DO NOT FREEZE!
Please send the most viable-appearing portion of the specimen.Necrotic tissue and blood in the specimen hinder the growth of the viable cells in culture.
- For chromosomes, please send 1 cm square tissue when possible.
- For FISH on paraffin blocks, please send the entire block and a Hematoxylin and Eosin (H&E) stained slide, or 10 unstained 4 micron formalin fixed paraffin-embedded tissue sections on electrostatically charged slides containing representative tumor.
- For FISH on touch-prep, please make a fresh cut of the fresh or frozen lymph node. Gently touch the fresh cut surface (several times) to the center of the clean slide. Label the slides with the case identifiers. Allow the slide to air-dry. Place in a covered container to prevent damage to the specimen side of the slide.
