Over 50 molecular genetic tests are conducted at WRGL:
These include triplet repeat disorders (Fragile X- FRAXA and FRAXE, Huntington disease, myotonic dystrophy- DM1 and DM2, OPMD, EPM1); cystic fibrosis; Duchenne and Becker muscular dystrophy; imprinting disorders (Prader-Willi and Angelman syndromes, Beckwith-Wiedemann and Russell-Silver syndromes); hereditary haemochromatosis; Lynch syndrome; DiGeorge syndrome; Rubinstein-Taybi syndrome; aniridia, Charcot-Marie-Tooth disease (CMT1, 2, 4 and X); Mowat-Wilson syndrome, plus a selection of rare disease genes. For a full list of molecular tests, see our DNA service list and also our entry on the UKGTN website. Within the Wessex region, these tests are free at the point of request.
Please note: UKGTN testing criteria need to be fulfilled for some referrals, notably Fragile X syndrome. Note also that referrals for carrier testing or presymptomatic testing for late-onset genetic disorders (such as Huntington disease) will only be accepted from a Clinical Geneticist.
Some genes or gene panels for common conditions are tested by next-generation sequencing .
Samples referred for tests not undertaken at our laboratory may be sent to other accredited centres (principally UKGTN-approved laboratories), subject to securing funding for testing.