The Medical Genetics Center

Dr. Osama K Zaki                    

 
650 band-stage karyotype showing isochromosome X

HIGH RESOLUTION CHROMOSOME ANALYSIS,  BLOOD

    Since the inception of banding methods to facilitate the unequivocal identification of chromosomes, major interest has been devoted to obtaining less condensed chromosomes. An advantage of elongated chromosomes is that they can visualize finer details with a large number of bands that otherwise are represented as a few major bands in condensed metaphase chromosomes.

    High resolution cytogenetic study includes several techniques for elongation of chromosomes to examine larger number of sub-bands.  The so-called "microdeletion syndromes" are best detected high resolution chromosome study.

Indications:

1. To diagnose cases suspected to have a micro-chromosomal disorder. To see a list of the commonest syndromes click here 

2. To verify the nature of a previously detected or suspected chromosomal abnormality during routine cytogenetic study.

3. To look for non specific subtle chromosomal abnormalities in cases with strong suspicion of chromosomal abnormalities and normal routine karyotype.

Specimen :

3- 5 ml of  peripheral blood are drawn in green-top vacutainer (Sod heparin tubes) or heparinized syringe.  Invert several times to mix and send in room temperature. DO NOT freeze or expose to direct sunlight.

Average report time: 

Results are usually available within 4-7 working days .  Few cases, may require longer time if non routine techniques are required.

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