Directory of tests

For more information on prices, please contact the West Midlands Regional Genetics Laboratory:

For referral information, please see the West Midlands Regional Genetics Laboratory page.

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Chromosome Breakage Syndromes

Chromosome Breakage Syndromes

TESTING STRATEGY

  • Fanconi Anaemia: Chromosome breakage in the presence of Mitomycin C and Diepoxybutane.
  • Blooms Syndrome: Chromosome analysis of Sister Chromatid Exchange
  • Roberts Syndrome and FC Phocomelia: Chromosome Analysis of Premature Centromeric Separation
  • Mosaic Variegated Mosaicism: Chromosome analydid for mosaicism and Premature Chromatid Separation.

SAMPLE REQUIREMENTS AND REPORTING TIME

  • 5ml blood in Lithium Heparin.
  • 4 weeks

Prenatal Diagnosis is not currently offered for Fanconi Anaemia.