Mae gwasanaethau labordy Gwasanaeth Genomeg Feddygol Cymru Gyfan (AWMGS) yn darparu ystod eang o wasanaethau dadansoddi genetig a genomeg ar gyfer clefydau prin, canser a ffarmacogenetig i boblogaeth Cymru, y DU ac yn rhyngwladol. Fel rhan o wasanaeth genomeg integredig, mae'r labordy hefyd yn cydweithio'n agos â Meddygon Genetig Clinigol a chydweithwyr o ddisgyblaethau eraill, gan gynnwys gwasanaethau obstetreg, pediatreg ac oncoleg.
Mae Gwasanaeth Genomeg Feddygol Cymru Gyfan wedi ymrwymo i ddarparu gwasanaeth o'r radd flaenaf.
 
Defnyddiwch y tabl canlynol i weld y profion sydd ar gael. Er hwylustod, gallwch naill ai adfer y prawf a ddymunir trwy roi allweddair yn y blwch chwilio isod, neu ddewis o un o'r dewislenni isod i fynegeio yn ôl cod cyfeiriadur prawf (os yw'n hysbys), 'Arbenigedd', 'Targed' (genyn) a 'dull’.

Lab Photo

Lle nodir, mae'r profion a ddarparwn sy'n debyg i'r cyfeiriadur prawf wedi'u nodi â rhif 'R' neu 'M'.
Mae 'rhifau R' yn cyfateb i brofion clefydau prin ac etifeddol.
Mae 'rhifau M' yn cyfateb i brofion canser (somatig)
 
Os na ddangosir y prawf yr ydych yn chwilio amdano yma, efallai ei fod yn un yr ydym yn ei anfon at labordy y tu allan i Gymru, cysylltwch â ni o wybodaeth.
 
Gallwch ddod o hyd i ddolenni i Gyfeirlyfr Prawf GIG Lloegr isod:
   Rare and inherited disease (including inherited cancers)download icon new
download icon new   National genomic test directory for cancer
 

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Spinal Muscular Atrophy (SMA) Type I / II / III / IV R70 Neurology MLPA or equivalent SMN1 Download Service information sheet Download Request Form
Spinocerebellar Ataxia Type 1 / 2 / 3 / 6 / 7 / 17 (SCA1 / 2 / 3 / 6 / 7 / 17) Neurology STR Testing ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP Download Service information sheet Download Request Form
Systemic Mastocytosis M86.2 Haematology Simple targeted mutation testing cKIT Download Service information sheet Download Request Form
Thyroid (DNA) M9.1, M10.1, M11.1, M12.1 Oncology DNA Panel, Pyrosequencing BRAF, KRAS, NRAS, HRAS RET TP53 Download Service information sheet Download Request Form
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Tuberous Sclerosis Complex R228 Cancer Genetics DNA NGS panel TSC1, TSC2 Download Service information sheet Download Request Form
Validation of copy number variants using real-time quantitative PCR (qPCR) R240.1, R244.1 Developmental Delay Targeted Mutation Testing Specific Target Download Service information sheet Download Request Form
Waldenstrom Macroglobulinemia (WM) service / lymphoplasmacytic lymphoma M104.2 Haematology Simple targeted mutation testing MYD88 Download Service information sheet Download Request Form
Whole Exome Sequencing for Rare Diseases (WES) R27, R29 Rare Disease Whole Exome Sequencing Download Service information sheet Download Request Form
Whole Genome Sequencing for Rare Diseases (WGS) R27, R29, WINGS/R14 Rare Disease Whole Genome Sequencing Download Service information sheet