The number of disorders for which molecular genetic testing is possible is increasing rapidly. The laboratory monitors the situation and reviews the services accordingly. Please contact the laboratory for an updated list of services provided. There is an organised UK network for testing for rare disorders. The laboratory has arrangements with other centres for tests not included on the list below. Please contact the laboratory for details. Useful sources of information are the UK directory of molecular genetic services (www.cmgs.org) and the European directory of DNA laboratories (www.eddnal.com).

Adrenoleukodystrophy (X-linked)

Carrier detection and prenatal diagnosis using mutation detection and/or linked marker analysis.

Breast Cancer (familial)

BRCA1 mutation testing only at present. Referrals only accepted from clinical genetics department .

Back to Top

Cystic Fibrosis

Diagnostic testing, carrier detection and prenatal diagnosis using test for the 8 most common mutations only. Linked marker analysis where necessary. Other rarer mutations available by specific request.

Dentatorubral-pallidoluysian atrophy (DRPLA)

Diagnostic testing using direct mutation detection.

Duchenne/Becker Muscular Dystrophy

Diagnostic testing using multiplex deletion test. Carrier detection and prenatal diagnosis using fluorescent dosage analysis.

Factor XI deficiency

Diagnostic testing, carrier detection using test for the common mutations only. Further mutation studies as part of an ongoing research programme.

Back to Top

Familial Adenomatous Polyposis

Presymptomatic testing using mutation screening in exon 15 only, plus linked marker analysis where necessary.

Friedreich's Ataxia

Diagnostic testing and carrier detection using direct detection of the GAA expansion mutation. Other point mutation analysis available on request.

Fragile X syndrome

Diagnostic testing, carrier detection and prenatal diagnosis using direct Frax A mutation detection.. Frax E testing if specifically requested.

Gilbert's syndrome

Diagnostic testing for TATAA box mutation only.

Back to Top

Haemochromatosis

Diagnostic testing and family studies for the common C282Y mutation. Analysis of the H63D mutation by request only.

Haemophilia A

Carrier detection and prenatal diagnosis using linked markers only.

Hereditary Motor and Sensory Neuropathy (HMSN) /Hereditary Liability to Pressure Palsies (HNPP)

Diagnostic and presymptomatic testing for common 17p duplication / deletion by fluorescent dosage analysis.

Huntington's disease

Diagnostic testing and presymptomatic testing using direct mutation detection. Presymptomatic testing samples only accepted from the clinical genetics department.

Back to Top

Kennedy Syndrome (SBMA)

Diagnostic testing and presymptomatic testing using direct mutation detection.

Leber's Hereditary Optic Neuropathy (LHON)

Diagnostic testing using screen for 3 common mutations.

Medium chain acyldehydrogenase deficiency (MCAD)

Diagnostic testing and carrier detection using test for K329E common mutation.

Menke's syndrome

Carrier detection and prenatal diagnosis using linked marker analysis only.

Mitochondrial mutations

Diagnostic testing using screen for common mutations associated with MELAS, MERRF, NARP plus screen for common deletion.

Myotonic Dystrophy

Diagnostic testing and presymptomatic testing using direct mutation detection.

Back to Top

Prader Willi/Angelman syndrome

Diagnostic testing using methylation studies. Linked marker analysis on family to test for deletions, uniparental disomy.

Sexing

Confirmation of sex chromosome abnormalities determined cytogenetically using test for AMXY and SRY sequences. Prenatal diagnosis for X-linked disorders using test for AMXY sequences.

Sorsby's Fundus Dystrophy

Diagnostic testing and presymptomatic testing for common S181C mutation only.

Spinal Muscular Atrophy

Diagnostic testing using screen for SMN deletion. Prenatal diagnosis using linked markers plus SMN deletion screen. Additional point mutation testing on request.

Back to Top

Spinal Cerebella Ataxia (types 1, 2, 3, 6, 7)

Diagnostic testing and presymptomatic testing using direct mutation detection. Routine service for SCA1,2,3,6 unless specified. SCA7 testing by request only.

Zygosity/Paternity analysis

Zygosity testing of twins using a panel of 6 highly polymorphic markers. Paternity testing only available for clinical not legal cases.

Back to Top