Cytogenetic Services 

Cytogenetic services provide high quality analysis for the detection of both constitutional chromosomal aberrations as well as abnormalities related to hematological malignancies. Routine and high-resolution karyotyping, Fluorescent In situ Hybridization (FISH), and array Comparative Genomic Hybridization (aCGH) are available to diagnose suspected chromosomal abnormalities in blood, solid tissues or prenatal samples. Cytogenetic analysis of malignancies (karyotyping and use of several available FISH probes) will provide information regarding malignancies, their prognosis and treatment strategies.

Our cytogenetics laboratory is CAP (College of American Pathologist) accredited. Recognition by CAP authenticates that the laboratory meets the highest possible quality control standards at every stage of testing.

The Cytogenetics Laboratory provides the following comprehensive testing services:

  • Standard Karyotyping

Changes that affect the number and/or structure of the chromosomes can cause problems with growth, development and related body functions. However, some chromosomal changes may have no effect on a person’s health. Standard G-banding chromosomal analyses are performed on all tissue types for diagnosis of congenital anomalies, mental retardation, leukemia, lymphoma or other hematological disorders and solid neoplasms.

Chromosome Analysis available for: 

  • Peripheral blood 

  • Bone Marrow 

  • Solid Tumors 

  • Amniotic Fluid 

  • Chorionic villi 

  • Cord Blood (Prenatal) 

  • Skin biopsy 

  • Fragile X Syndrome 

  • Breakage studies: 

    • Fanconi's Anemia  

    • Ataxia Telangiectasia

  •  Fluorescent In Situ Hybridization (FISH) analysis

A powerful tool for rapid detection of certain chromosomal abnormalities that is undetectable or difficult to be characterized by conventional cytogenetic methods. FISH is utilized as a valuable adjunct to traditional cytogenetics for screening several abnormalities such as marker chromosome, complex translocation, subtle translocations or deletions involving chromosomal ends, microdeletion syndrome, numerical aberrations of chromosomes and suspected aneuploidy (prenatal diagnosis).

FISH can usually be performed on the same specimen submitted for chromosome studies. Briefly, metaphase chromosomes or interphase nuclei are denatured on the slide, as is the fluorescently labeled DNA probe. The probe and the chromosomes/nuclei are then hybridized, slides are washed, counterstained and analyzed by fluorescent microscopy.

At GenaTi, FISH analyses is available for the following conditions: 

Microdeletion syndrome Probes 

  •   DiGeorge / Velocardiofacial syndrome (22q11.2) 

  •   Prader-Willi / Angelman syndrome (15q11-q13) 

  •   Williams syndrome (7q11.23) 

  •   Miller-Dieker syndrome (17p13.3) 

  •   Smith-Magenis syndrome (17p11.2) 

  •   Cri-du-Chat syndrome (5p15.2) 

  •   Wolf-Hirschhorn syndrome (4p16.3) 

  •   Kallmann syndrome / (STS) (Xp22.3) 

  •   1p36 deletion syndrome 

  •   SRY (Yp11.3)

Prenatal screening probe 

  •   Screening for numerical aberration of chromosomes (13, 21, 18, X & Y) 

Oncology/ Hemato-oncolgy Probes 

  •  BCR/ABL translocation probe t(9;22)(q34;q11.2) 

  •  CBFB Break Apart 16p13.11/16q22.1 

  •  AML1/ETO (RUNX1/RUNX1T1) 21q22.12/8q21.3 

  •  PML/RAR? (RARA) 15q24.1/17q21.1-q21.2 

  •  RP1 deletion (13q14) 

  •  BCL6 (3q27.3) 

  •  IgH (14q32.33) 

  •  c-MYC (8q24.21) 

  •  TP53 (17 p13.1) 

  •  Her2/neu

Other Probes 

  •   Centromeric probe 

  •   Whole chromosome painting probes 

  •   Telomeric probe 

  •   Arm-specific painting probes 

  •  Comparative Genomic Hybridization array (aCGH) Analysis

CGH array is a high resolution analysis with superior detection and accuracy rate for copy number variations (CNV) and chromosomal alterations that are too small to be appreciated by standard chromosomal analysis.

CGH array is performed at the DNA level and compares its content in relation to a universal reference. Test DNA and reference samples are then hybridized to the array. The arrays are scanned and the intensities of the fluorescence are plotted as a ratio at each oligonucleotide probe. These ratios can then be interpreted as representing either a loss or a gain of DNA. A copy number change is considered only when three or more adjacent oligonucleotides are shown to be duplicated or deleted (with an average size of ~ 100 kb).

(aCGH) can help in diagnosis of the following conditions: 

  • Autism 

  • Developmental delays 

  • Intellectual disability 

  • Dysmorphic features 

  • Congenital anomalies 

  • Family Screening 

  • Parental identity 

  • Array Confirmation

Please note: 
aCGH cannot detect polyploidy, balanced chromosomal rearrangements, mosaicism, small duplications, deletions or point mutations below the resolution of the used array. Clinical consultations by experts may be necessary for any anomaly discovered.

Copyright © 2018 Ro'ya - All Rights Reserved