All approved tests are listed in the NHS Directory of Molecular Genetic Testing
Not all requests for new tests are accepted by the UKGTN. There can be a variety of reasons for this, including: unclear scientific understanding; the test is still in the research phase; or the test does not add anything new in the diagnosis or management of the patient.
New tests approved by GenCAG in 2007 for services in 2008/9
| DISEASE | GENE | |||
|---|---|---|---|---|
| NAME | OMIM | GENE | OMIM | Laboratory |
| AICARDI-GOUTIERES SYNDROME 1; AGS1 | 225750 | 3-PRIME @REPAIR EXONUCLEASE 1; TREX1 | 606609 | Leeds regional molecular genetics laboratory (Diagnostic) |
| AICARDI-GOUTIERES SYNDROME 2; AGS2 | 610181 | RIBONUCLEASE H2, SUBUNIT B; RNASEH2B | 610326 | Leeds regional molecular genetics laboratory (Diagnostic) |
| AICARDI-GOUTIERES SYNDROME 3; AGS3 | 610329 | RIBONUCLEASE H2, SUBUNIT C; RNASEH2C | 610330 | Leeds regional molecular genetics laboratory (Diagnostic) |
| AICARDI-GOUTIERES SYNDROME 4; AGS4 | 610333 | RIBONUCLEASE H2, SUBUNIT A; RNASEH2A | 606034 | Leeds regional molecular genetics laboratory (Diagnostic) |
| AICARDI-GOUTIERES SYNDROME 5; AGS5 | 610905 | 3-PRIME @REPAIR EXONUCLEASE 1; TREX1 | 606609 | Leeds regional molecular genetics laboratory (Diagnostic) |
| CEREBRAL CAVERNOUS MALFORMATIONS; CCM | 116860 | KRIT 1, ANKYRIN REPEAT CONTAINING; KRIT1 | 604214 | Dundee regional molecular genetics laboratory (Diagnostic) |
| CEREBRAL CAVERNOUS MALFORMATION 2; CCM2 | 603284 | |||
| PROGRAMMED CELL DEATH 10; PDCD10 | 603285 | |||
| Charcot Marie Tooth disease, demyelinating, type 1D; CMT1D | 607678 | Early Growth Response 2; EGR2 | 129010 | Bristol regional molecular genetics laboratory (Diagnostic) |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2 | 609260 | MITOFUSIN 2; MFN2 | 608507 | London Institute of Neurology molecular genetics laboratory (Diagnostic) |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E | 607684 | NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL | 162280 | Bristol regional molecular genetics laboratory (Diagnostic) |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K | 607831 | GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1 | 606598 | London Institute of Neurology molecular genetics laboratory (Diagnostic) |
| CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F | 607734 | NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL | 162280 | Bristol regional molecular genetics laboratory (Diagnostic) |
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A | 214400 | GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1 | 606598 | London Institute of Neurology molecular genetics laboratory (Diagnostic) |
| Charge Syndrome | 214800 | Chromodomain helicase DNA-binding protein-7; CHD7 | 608892 | Birmingham regional molecular genetics laboratory (Diagnostic) AND Glasgow regional molecular genetics laboratory (Diagnostic) |
| EPISODIC ATAXIA, TYPE 2; EA2 | 108500 | CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA 1A SUBUNIT; CACNA1A | 601011 | Sheffield regional molecular genetics laboratory (Diagnostic) |
| Fibrodysplasia Ossificans Progressiva; FOP | 135100 | Activin A, type 1 receptor ; ACVR1 | 102576 | Glasgow regional molecular genetics laboratory (Diagnostic) |
| Hypertrophic Neuropathy of Dejerine Sottas | 145900 | Early Growth Response 2; EGR2 | 129010 | Bristol regional molecular genetics laboratory (Diagnostic) |
| PERIAXIN; PRX | 605725 | |||
| INFANTILE SPASM SYNDROME, X-LINKED | 308350 | CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5 | 300203 | Cardiff regional molecular genetics laboratory (Diagnostic) |
| MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 | 141500 | CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA 1A SUBUNIT; CACNA1A | 601011 | Sheffield regional molecular genetics laboratory (Diagnostic) |
| NEUROPATHY, CONGENITAL HYPOMYELINATING | 605253 | Early Growth Response 2; EGR2 | 129010 | Bristol regional molecular genetics laboratory (Diagnostic) |
| OSTEOGENESIS IMPERFECTA TYPE 3; OI3 | 259420 | COLLAGEN, TYPE 1, ALPHA 1; COL1A1 | 120150 | Sheffield regional molecular genetics laboratory (Diagnostic) |
| COLLAGEN, TYPE 1, ALPHA 2; COL1A2 | 120160 | |||
| RETINITIS PIGMENTOSA; RP | 268000 | retinitis pigmentosa GTPase regulator; RPGR | 312610 | Manchester regional molecular genetics laboratory (Diagnostic) |
| retinitis pigmentosa 2 (X-linked recessive); RP2 | 312600 | |||
| rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant); RHO | 180380 | |||
| peripherin 2 (retinal degeneration, slow); PRPH2 | 179605 | |||
| PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae); PRPF31 | 606419 | |||
| PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae); PRPF8 | 607300 | |||
| neural retina leucine zipper; NRL | 162080 | |||
| MP (inosine monophosphate) dehydrogenase 1;IMPDH1 | 146690 | |||
| PDGFA associated protein 1; PDAP1 | 607075 | |||
| retinitis pigmentosa 1 (autosomal dominant); RP1 | ||||
| SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A | 182600 | SPASTIC PARAPLEGIA 3A (AUTOSOMAL DOMINANT); SPG3A | 606439 | Sheffield regional molecular genetics laboratory (Diagnostic) |
| Spastic Paraplegia 31, autosomal dominant; SPG31 | 610250 | RECEPTOR EXPRESSION-ENHANCING PROTEIN 1; REEP1 | 609139 | Sheffield regional molecular genetics laboratory (Diagnostic) |