Fragile X Syndrome

Description: 
FRAXA PCR fragment analysis + AmplideX FMR1 PCR (Asuragen) analysis.
Synonyms or keywords: 
FRAXA; Fragile X Syndrome; FRAXA premutation related disease, Premature Ovarian Insufficiency, Fragile-X related tremor-ataxia syndrome (FXTAS); FMR1.
Department: 
Sample type and Volume required: 
3ml EDTA blood or 5 - 10ug genomic DNA
Turnaround time: 
66% reported within 34 days. Internal audit July - September 2019.
Contacts:
Monogenics Laboratory at Guy's Hospital
Genetics Department
Tower Wing - 5th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT

T: 020 7188 2582/1696
F: 020 7188 7273
E: dnadutyscientist@viapath.co.uk; gst-tr.viapathgeneticsoffice@nhs.net
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 11/10/2019