Directory of tests
For more information on prices, please contact the West Midlands Regional Genetics Laboratory:
- +44(0)121 335 8036
- bwc.genetics.lab@nhs.net
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.