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Service List for DNA testing at the Yorkshire Regional DNA Laboratory
Testing for some of the diseases listed below is offered through the UK genetic testing network
Further details regarding this testing can be found on the UKGTN website
An alpabetical list of genes tested can be found on the Tests - By Gene page
* ADENOMATOUS POLYPOSIS OF THE COLON
* AICARDI-GOUTIÈRES SYNDROME
* ALSTROM SYNDROME
* BREAST CANCER
* COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS
* CONGENITAL ADRENAL HYPERPLASIA (DUE TO 21-HYDROXYLASE DEFICIENCY)
* CENTRAL CORE DISEASE
* CYSTIC FIBROSIS
* DEAFNESS, AUTOSOMAL RECESSIVE 1
* DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
* FAMILIAL MEDULLARY THYROID CARCINOMA
* FAMILIAL EXUDATIVE VITREORETINOPATHY
* GENDER ASSIGNMENT/GENETIC IDENTITY
* GLUT1 DEFICIENCY SYNDROME
* HARLEQUIN ICTHYOSIS
* HUNTINGTON DISEASE
* HYPERTROPHIC CARDIOMYOPATHY
* ICHTHYOSIS, X-LINKED (STEROID SULPHATASE DEFICIENCY)
* LI-FRAUMENI SYNDROME
* LYNCH SYNDROME, TURCOT SYNDROME, COLORECTAL CANCER - PMS2
* MALIGNANT HYPERTHERMIA
* MARFAN SYNDROME
* MECKEL-GRUBER SYNDROME
* MELANOMA, CUTANEOUS MALIGNANT
* MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
* MULTIPLE ENDOCRINE NEOPLASIA, TYPE II
* OCULOPHARYNGEAL MUSCULAR DYSTROPHY
* OPTIC ATROPHY 1
* PHEOCHROMOCYTOMA
* PRIMARY HYPERTROPHIC OSTEOARTHROPATHY (PHO)
* SANDHOFF DISEASE
* VON HIPPEL-LINDAU SYNDROME
* Y CHROMOSOME MICRODELETIONS
Details for each service above includes key factors which are known to affect performance of tests or interpretation of test results. This includes information on the sensitivity, specificity and reference ranges as appropriate.
Service List for DNA testing at the Northern Genetics Service, Newcastle
(GenLYNC collaboration)
The diseases below are offered to local users under the GenLYNC collaboration, and are performed in Newcastle. Samples should be sent to the Leeds laboratory as usual, but enquiries about details of services should be directed to the Newcastle laboratory.
* HAEMOCHROMATOSIS
* FRAGILE X SYNDROME
* MYOTONIC DYSTROPHY (TYPES 1 AND 2)
* SPINAL MUSCULAR ATROPHY (SMA)
* DUCHENNE /BECKER MUSCULAR DYSTROPHY
* DRPLA
* MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
* ALPHA-1-ANTITRYPSIN DEFICIENCY
* FRIEDREICH ATAXIA
* FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A
* CHARCOT-MARIE-TOOTH DISEASE X-LINKED
* HEREDITARY MOTOR AND SENSORY NEUROPATHY
* HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
* MITOCHONDRIAL ANALYSIS
* MICROSATELLITE INSTABILITY FOR HNPCC
* MUTYH-ASSOCIATED COLORECTAL ADENOMA
* DNA POLYMERASE GAMMA (POLG)
* ANGELMAN SYNDROME / PRADER-WILLI SYNDROME
* RETT SYNDROME
* SPINAL AND BULBAR MUSCULAR ATROPHY
* SPINOCEREBELLAR ATAXIA (INCLUDING SCA17)
* X INACTIVATION STUDIES
Where testing for a particular genetic disorder is not available in Leeds or as part of the GenLYNC collaboration, samples can be forwarded as appropriate to an external laboratory. A list of laboratories to which samples are routinely sent is available on request. Where possible, this is through the UK Genetic Testing Network (UKGTN) and to CPA accredited laboratories.