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Molecular genetics 

Over 50 molecular genetic tests are conducted at WRGL:

These include triplet repeat disorders (Fragile X- FRAXA, 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 (CMT1A); Mowat-Wilson syndrome, plus a selection of rare disease genes. For a full list of molecular tests, see our DNA service list.

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 . Single-gene prenatal testing as a result of an abnormal ultrasound scan will require samples from both parents in addition to the fetal sample, in case the test detects a variant of uncertain significance.

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; for details of such tests and current prices, contact Duty Scientist


Page Last Updated: 19/11/2019 11:01 
Printed from Salisbury NHS Foundation Website