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:
Confirmation of mutations identified in research laboratory, carrier testing and prenatal diagnosis for all genes. |
|
Alström syndrome* |
ALMS1 |
Mutation screening:
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 |
||
Leber congenital amaurosis is the commonest form of congenital blindness. One gene, LCA5 on Chr. 6q14, encodes the ciliary protein lebercilin. The image shows lebercilin co-localized with tubulin in cultured cells.