Diagnostic testing

The tests listed below are available through the Yorkshire Regional DNA Laboratory as part of our rare recessive disease service provision.

For contact details, sample requirements and referral card, please visit the DNA laboratory website. For further information, please contact us on 0113 206 5205.

Disease	Locus or gene	Test or service provided
Aicardi-Goutières syndrome*	*AGS1* (TREX1) *AGS2* (RNASEH2B/FLJ11712) *AGS3* (RNASEH2C/AYP1) *AGS4* (RNASEH2A) *AGS5* (SAMHD1)	Full sequencing of all genes. Confirmation of mutations identified in research laboratory, carrier testing and prenatal diagnosis for all genes. (In collaboration with Prof. Yanick Crow, Manchester.)
Alström syndrome*	*ALMS1*	Mutation screening: Level 1: Sequence analysis of exons 10 and 16. (~70% of reported disease-causing variants occur in exons 10 and 16.) Level 2: Sequence analysis of exon 8. (~24% of reported disease-causing variants occur in exon 8.) Carrier testing and prenatal diagnosis.
Cockayne syndrome	*CSA* (ERCC8) *CSB* (ERCC6)	Microsatellite analysis for linkage or autozygosity studies in families of suitable structure.
Dihydropyrimidinase deficiency	*DPYS*	Confirmation of frameshift mutation (exon 8) in local pedigree in order to offer prenatal testing.
Harlequin ichthyosis	*ABCA12*	Confirmation of recurrent Pakistani mutation in exon 49.
Meckel-Grüber syndrome**	*MKS1* *MKS2* *MKS3* (TMEM67, Meckelin)	Confirmation of research findings by sequence analysis of MKS1, MKS2 and MKS3, and subsequent carrier testing. Analysis of recurrent Pakistani MKS3 splice-site mutations. (In collaboration with Dr Colin Johnson.)
Microcephalic osteodysplastic primordial dwarfism Type II (MOPD2)	*PCNT2* (Pericentrin-2)	Sequencing for mutation p.E348X (c.1042G>T)
Nemaline myopathy	*ACTA1*	Confirmation of screening for exon 4 mutations (including common Pakistani mutations).
Persistant Mullerian duct 2 syndrome (OMIM 261559)	AMH (OMIM 600957)	Sequencing for missense mutation p.R194C mutation.
Sandhoff disease	*HEXB*	Sequencing of 14 exons of HEXB. Carrier testing and prenatal diagnosis.
Turcot syndrome (Mismatch repair cancer syndrome, OMIM 276300)	*PMS2*	Sequencing of PMS2 including exon 14 for common Pakistani mutation (R802X). (In collaboration with Prof. David Bonthron.)
Disease approved by and offered through UK Genetic Testing Network *Gene dossier submitted to UK Genetic Testing Network