Cytogenetics
An important tool in the field of chromosome study.
Molecular Cytogenetic Analysis (Fluorescent In Situ Hybridization, FISH)
In recent years, an important new method in the field of chromosomes study has been the rapid growth of the Molecular Cytogenetic Analysis, which has acted as a complement to the limitations of classical cytogenetic analysis (e.g. difficulty in detecting small changes in genetic material and complex chromosomal rearrangements).
More specifically, the following can be detected and elucidated with the molecular cytogenetic analysis (FISH):
- Numerical chromosomal abnormalities.
- Micro-deficiencies.
- Complex chromosomal changes.
- Chromosomes rearrangements of unknown origin in cases of prenatal, postnatal control, as well as in cases of neoplasms, in both metaphase chromosomes and interphase cytogenetics.
Also, a very important application of molecular cytogenetic analysis is its use in stem cell nuclei for preimplantation diagnosis of:
- Numerical chromosomal abnormalities.
- Gender in incidents with a history of gender-related conditions.
- Structural chromosomal abnormalities in cases with a similar history.
APPLICATIONS OF MOLECULAR CYTOGENETIC ANALYSIS IN TUMORS
CHRONIC MYELOGENOUS LEUKEMIA
- Chromosomal Shift Detection t(9; 22) (q34; q11) (BCR / ABL)
- Chromosome 8 Trisomy Detection
- Chromosome 19 Trisomy Detection
- Chromosome 17 Deletion Detection (17p13.1)
ACUTE MYELOGENOUS LEUKEMIA
- Detection of Chromosome 13 Trisomy
- MLL Gene Rearrangement Detection (11q23)
- Chromosomal Shift Detection t(1; 22) (p13; q23)
- Chromosome 21 Trisomy Detection
- Chromosome 8 Trisomy Detection
- Chromosome 16 Inversion Detection (CBFb / MYH11)
- Monosomy / Deletion Detection / Chromosome 5 (-5 / 5q-)
- Monosomy / Deletion Detection / Chromosome 7 (-7 / 7q-)
- Chromosomal Shift Detection t(15; 17) (q22; q11-21)
- Chromosomal Shift Detection t(8; 21) (q22; q22)
- EVI I Reversal or Shift Detection [inv (3) (q21q26), t (3; 3) (q21; q26)] (M1, M2, M4, M6, M7)
- Chromosome 20 Deletion Detection (del 20q)
ACUTE LYMPHOBLASTIC LEUKEMIA
- Chromosomal Shift Detection t(12; 21) (p13; q22) (TEL / AML1)
- MLL Gene Rearrangement Detection (11q23)
- Chromosomal Shift Detection t(9; 22) (q34; q11) (BCR / ABL)
- Chromosomal Shift Detection t(1; 19) (q23; p13)
- Chromosome 21 Trisomy Detection
- Chromosome 9 Deletion Detection del (9p21)
- Chromosomal Shift Detection t(8; 14) (q24; q32)
- C-MYC Gene Rearrangement Detection (8q24)
- E2A Gene Rearrangement Detection (19p13)
MYELODYSPLASTIC SYNDROMS
- Chromosome 8 Trisomy Detection
- Chromosome 21 Trisomy Detection
- Chromosome 16 REVERSAL DETECTION (CBFb / MYH11)
- Chromosome 5 Monosomy / Deletion Detection (-5 / 5q-)
- Chromosome 7 Monosomy / Deletion Detection (-7 / 7q-)
- Chromosome 20 Deletion Detection (del 20q)
- EVI I Reversal or Shift Detection [inv (3) (q21q26), t(3; 3) (q21; q26)] (M1, M2, M4, M6, M7)
- Y Chromosome Deletion Detection
MULTIPLE MYELOMA
- Chromosome 13 Deletion Detection (13q14)
- Chromosome 17 Deletion Detection (17p13.1)
- Chromosomal Shift Detection t(11; 14) (q13; q32) (BCL1 / IgH)
LYMPHOMAS
- Chromosomal Shift Detection t(2p23) (ALK)
- Chromosomal Shift Detection t(8q24) t (8; 22) (q24; q11) and t(2; 8) (p11; q24)
- Chromosomal Shift Detection t(8; 14) (q24; q32)
- Chromosomal Shift Detection t(11; 14) (q13; q32) (BCL1 / IgH)
- Chromosome 12 Trisomy Detection
- IGH Gene Rearrangement Detection (14q32)
- Chimerism (after allogeneic transplantation)
- XX / XY FISH chimerism detection
CHRONIC LYMPHOHYPERPLASTIC SYNDROMS
- Chromosome 11 Deletion Detection (11q22.3)
- Chromosome Trisomy Detection 12
- Chromosome 13 Deletion Detection (13q34)
- Chromosome 13 Deletion Detection (13q14.3)
- Chromosome 13 Deletion Detection (13q14)
- Chromosome 17 Deletion Detection (17p13.1)
- Shift Detection t(14; 18) (q32; q21)
- IGH Gene Rearrangement Detection (14q32)
- Shift Detection t(11; 14) (q13; q32)
- Chromosome 6 Deletion Detection (6q23.3)
NEUROBLASTOMA
- Chromosome 1 Deletion Detection (1p36)
- Quantitative Detection of MYCN Oncogene Copies (2p24)
- Chromosome 11 (11q) Deletion Detection
- Quantitative Amplification Detection on Chromosome 17 (17q gain)
CHRONIC MYELOHYPERPLASTIC SYNDROMS
- Monosomy Detection / Chromosome 5 (-5 / 5q-)
- Monosomy Detection / Chromosome 7 (-7 / 7q-)
- Chromosome 8 Trisomy Detection
- Chromosomal Shift Detection t(9; 22) (q34; q11) (BCR / ABL)
- Chromosome 20 Deletion Detection (del 20q)
- Chromosome 16 Inversion Detection (CBFb / MYH11)
- Chromosome 13 Deletion Detection (13q14)
- Chromosome 4 Deletion Detection (4q12) (FIP1L1 / PDGFRA)
OLIGODENDROGLIOMA
- Deletion Detection 1p36 / 1q25
- Deletion Detection 19p13 / 19q13
RHABDOMYOSARCOMA
-
FKHR Gene Rearrangement Detection (13q14)
BREAST, ENDOMETRIUM AND STOMACH CANCER
- Quantitative Detection of Copy Number of HER2 Oncogene (17q11.2-q12) by Fluorescent In Situ Hybridization (FISH)
- Quantitative Detection of Copy Number of HER2 Oncogene (17q11.2-q12) by Chromogen In situ Hybridization (CISH)
OTHER TESTS
- Detection of Sperm Aneuploids (X, Y, 18, 13, 21,15, 16, 22)
- M-FISH (multiplex, multicolor in situ hybridization)
Instructions for sending samples:
Molecular Cytogenetic Analysis (FISH): After consultation with the laboratory.