Diagnostic testing

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

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)	Mutation screening: Level 1: Sequencing of AGS1 and exons 2, 6 and 7 of AGS2 (plus analysis for recurrent AGS3 Pakistani mutation, where specifically requested). Should detect at least one mutation in ~74% of AGS patients. Level 2: Sequencing of remaining exons of AGS2. Confirmation of mutations identified in research laboratory, carrier testing and prenatal diagnosis for all genes.
Alström syndrome*	*ALMS1*	Mutation screening: Level 1: Sequence analysis of exons 10 and 16. (Detects ~65% of reported mutations.) Level 2: Sequence analysis of exon 8. (Increases detection to ~78% of reported mutations.) Carrier testing and prenatal diagnosis.
Cockayne syndrome	*CSA* (ERCC8) *CSB* (ERCC6)	Microsatellite analysis for linkage/autozygosity studies in families of suitable structure.
Harlequin ichthyosis	*ABCA12*	Confirmation of recurrent Pakistani mutation in exon 49.
Meckel-Grüber syndrome**	*MKS1* *MKS3* (TMEM67, Meckelin)	Confirmation of research findings by sequence analysis of MKS1 and MKS3 and subsequent carrier testing. Analysis of recurrent Pakistani MKS3 splice-site mutations.
Nemaline myopathy	*ACTA1*	Confirmation of screening for exon 4 mutations (including common Pakistani mutations).
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 exon 14 for common Pakistani mutations. Rest of gene under development.
Disease approved by and offered through UK Genetic Testing Network *Gene dossier submitted to UK Genetic Testing Network