Molecular Genetics Laboratory

Diagnostic Molecular Genetics Laboratory

The Molecular Genetics Laboratory provides comprehensive DNA testing for a large number of genetic disorders. It provides prenatal diagnosis and presymptomatic and carrier testing according to National Pathology Accreditation Advisory Council (NPAAC) guidelines.

How to access the service

Molecular Genetic diagnoses are available for the following disorders:

Fragile XA syndrome -diagnosis, carrier status and prenatal diagnosis
Fragile XE mental retardation - diagnosis, carrier status and prenatal diagnosis
Myotonic dystrophy - diagnosis, presymptomatic and prenatal diagnosis
Duchenne/Becker muscular dystrophy - diagnosis, carrier status and prenatal diagnosis
Spinal muscular atrophy - diagnosis, carrier status and prenatal diagnosis
Friedreich ataxia - diagnosis, carrier status
Angelman/Prader Willi syndrome (DNA methylation test) - diagnosis
Spinocerebellar ataxia (1,2,3,6,7 and including DRPLA) - diagnosis and presymptomatic diagnosis
Spinobulbar muscular atrophy - diagnosis, carrier testing and presymptomatic diagnosis
Uniparental disomy - diagnosis and prenatal diagnosis
Fetal sexing - prenatal diagnosis
Gender ambiguity - diagnosis
Achondroplasia (FGFR3 G380R) - diagnosis and prenatal diagnosis
FGFR3 craniosynostosis (Pro250Arg mutation) - diagnosis, carrier status and prenatal diagnosis
X-linked spondyloepiphyseal dysplasia tarda (all exons) - diagnosis, carrier status and prenatal diagnosis
Familial Mediterranean Fever (exon 10 and exon 2 mutations) -diagnosis
Connexin 26 (30delG mutation) and sequencing of ORF - diagnosis
Mutation detection in other disorders, by prior arrangement.