List of Tests

  1. 10001 | Any 5 genes – full exon sequencing
  2. 80000 | Custom test for any genetic marker not on list
  3. 80010 | Achondroplasia – 2 common mutations of FGFR3 (1138 G>A/C)
  4. 80020 | Marfan Syndrome-like – ACTA2 – Full mutation screen
  5. 80030 | Adrenal Hypoplasia, Congenital X-linked (DAX1) – Full mutation analysis + MLPA
  6. 80040 | Alpha 1 – antitrypsin deficiency – 2 common mutations (S&Z)
  7. 80050 | Angelman syndrome – Methylation, UPD & deletion analysis
  8. 80060 | Aniridia (PAX6) – Full intragenic mutation screen
  9. 80070 | Anophthalmia/Microphalmia – BMP4 – Full mutation screen
  10. 80080 | Anophthalmia/Microphalmia – OTX2 – Full mutation screen
  11. 80090 | Anophthalmia/Microphalmia – PITX2 – Full mutation screen
  12. 80100 | Anophthalmia/Microphalmia – TFAP2A – Full mutation screen
  13. 80110 | Anophthalmia/Microphalmia – Dosage analysis
  14. 80120 | Autism associated with PWACR duplication – FISH/dosage PCR
  15. 80130 | Beckwith Wiedemann syndrome – 11p15 microsatellite analysis for UPD; 11p15 methylation analysis of ICR1 and ICR2; 11p15 MLPA analysis.
  16. 80140 | BCR/ABL kinase mutations – Limited mutation screen
  17. 80150 | BPES (FOXL2) Full mutation screen + MLPA
  18. 80160 | Breast/ovarian cancer full mutation screen of BRCA1 and BRCA2 – including dosage analysis by MLPA
  19. 80170 | Breast/ovarian cancer mutation screen of known BRCA1 and BRCA2 mutations
  20. 80180 | CAVD/CBAVD – CF mutations inc Poly T
  21. 80190 | Charcot Marie Tooth disease CMT1A – Duplication analysis
  22. 80200 | CMT1B (PO) (MPZ) – Full mutation screen
  23. 80210 | X-linked CMT – Full mutation analysis of Cx32
  24. 80220 | Cystic Fibrosis – 32 most common mutations
  25. 80230 | DAX1 – Full genetic screen
  26. 80240 | Di George Syndrome – MLPA 22q, 10/20p, 8p, 4q
  27. 80250 | Duchenne/Becker Muscular Dystrophy (deletion,duplication, carrier test) Full
  28. 80260 | Duchenne/Becker Muscular Dystrophy (deletion,duplication, carrier test) Carrier
  29. 80270 | Duplications of PWACR – FISH/dosage PCR
  30. 80280 | Factor V Leiden
  31. 80290 | Familial Hypercholesterolaemia – LDLR, APOB, PCSK9; Common 20 mutation screen, 40% of mutations
  32. 80300 | Familial Hypercholesterolaemia – LDLR full sequence analysis and MLPA
  33. 80310 | Fukutin-related protein (FKRP) – Common mutation screen
  34. 80320 | FLT 3 – Common duplication
  35. 80330 | Fragile X syndrome (FRAXA and FRAXE) – PCR expansion screen – Expansion analysis
  36. 80340 | Fragile X syndrome (FRAXA and FRAXE) – Southern blot analysis – Expansion analysis
  37. 80350 | Haemochromatosis – 2 common mutations
  38. 80360 | Hereditary neuropathy with liability to pressure palsies (HNPP) (17p11.2) – MLPA
  39. 80370 | Hereditary Non Polyposis Colon Cancer (HNPCC) – Full mutation screen of hMLH1 and hMSH2
  40. 80380 | Hereditary Non Polyposis Colon Cancer (HNPCC) – Dosage by MLPA
  41. 80390 | Hereditary Non Polyposis Colon Cancer (HNPCC) – Full mutation screen of hMSH6
  42. 80400 | Huntington Disease (HD) PCR expansion screen 1 PCR
  43. 80410 | Huntington Disease (HD) PCR expansion screen 2 PCR
  44. 80420 | Hypochondroplasia – Specific mutation 1620C>A
  45. 80430 | JAK 2 – V617F mutation
  46. 80440 | Leukaemia translocations – Multiple RT-PCR for 29 translocation mutations
  47. 80450 | Mowat Wilson Syndrome – Full mutation screen
  48. 80460 | Marfan syndrome – Full mutation screen of FBN1 Full Mutation screening by CSCE, SNPlex and MLPA
  49. 80470 | Marfan syndrome – Testing for known mutations
  50. 80480 | Multiple Exostoses – Full mutation screen
  51. 80490 | MYH11 (Marfan Syndrome-like) – Full mutation screen
  52. 80500 | Myocilin – Mutation screening
  53. 80510 | Myotonic Dystrophy (MyD) – PCR expansion screen
  54. 80520 | Myotonic Dystrophy (MyD) – Southern blot analysis
  55. 80530 | Neurofibromatosis (NF1) and Neurofibromatosis-Like Syndrome (NFLS) – Combined full mutation screen of NF1 and SPRED1
  56. 80540 | Neurofibromatosis (NF1) and Neurofibromatosis-Like Syndrome (NFLS) – Testing for known mutations
  57. 80550 | NPM1 – Nucleophosmin/Nucleoplasmin Family member 1 – Exon 11 mutations
  58. 80560 | Non-syndromic Deafness (DFNBI) – Common mutation 35delG (Cx26)
  59. 80561 | Noonan 1 – 7 exons of the PTPN11 gene (2, 3, 4, 7, 8, 12 and 13) which account for 45% of cases
  60. 80562 | Noonan 2 – three exons of RAF1 (6, 13 and 16) and three exons of SOS1 (3, 6 and 10) which will detect another 15% of cases
  61. 80570 | Oculopharyngeal Muscular Dystrophy (OPMD) – Expansion analysis
  62. 80580 | PAX 6 – Full intragenic mutation screen
  63. 80590 | PAX 6 – Full intragenic mutation screen + FISH
  64. 80600 | PAX 6 – Testing for known mutations
  65. 80610 | Pseudohypoparathyroidism/GNAS – GNAS methylation, NESP55, STX16 deletions
  66. 80620 | Prader-Willi syndrome – Methylation, UPD & deletion analysis
  67. 80630 | Progressive myoclonus epilepsy type 1 (EPM1) (UVL) – Dodecamer repeat expansion analysis
  68. 80640 | Progressive myoclonus epilepsy type 1 (EPM1) (UVL) – Point mutation analysis
  69. 80650 | Prothrombin – P20210/20A analysis
  70. 80660 | PTEN gene mutation analysis – Full mutation analysis + MLPA
  71. 80670 | RETT Syndrome (MECP2) – Full mutation analysis + MLPA
  72. 80680 | RETT Syndrome (MECP2) – Testing for known mutations
  73. 80690 | Rubinstein Taybi Syndrome (CREBBP) – Full intragenic mutation screen and dosage by MLPA
  74. 80700 | Rubinstein Taybi Syndrome (CREBBP) – Testing for known mutations
  75. 80710 | Sex determination of CVS samples for molecular analysis – Amelogenin, SRY
  76. 80720 | Short stature gene analysis (SHOX) – Full mutation screen
  77. 80730 | Short stature gene analysis (SHOX) – MLPA Dosage analysis
  78. 80740 | Silver-Russell Syndrome – 11p15 methylation analysis of ICR1 MSMLPA analysis
  79. 80750 | Smith-Magenis Syndrome (RAI1) – Full mutation screen + MLPA
  80. 81090 | BPES (FOXL2) Full mutation screen + MLPA
  81. 80760 | SOX2 (Anophthalmia) – Full mutation screen + MLPA
  82. 80770 | Spinal Muscular Atrophy (SMN1) – Deletion analysis (exons 7 and 8)
  83. 81120 | H1N1 panel (Influenza A and Novel H1N1 subtype)
  84. 80780 | Steroid sulphatase deficiency (STS) – Deletion analysis by MLPA
  85. 80790 | TAAD (Thoracic Aortic Aneurism Dissection) – Combined full screen of TGFBR1 & 2, MYH11 & ACTA 2 – 4 gene full Mutation screen; Mutation screening by DHPLC and dosage by MLPA
  86. 80950 | Paternity Test Invasive Post-natal – Blood from Mother, Alleged Father and Child
  87. 81160 | HSV detection & Viral load
  88. 80800 | TAAD (Thoracic Aortic Aneurism Dissection) – Testing for known mutations
  89. 80810 | TGFBR1(Marfan Syndrome-like) – Full mutation screen + MLPA
  90. 80980 | Grandparentage Testing – Both paternal grandparents w/mother
  91. 81200 | Hepatitis B virus (detection and quantitation)
  92. 80820 | TGFB2 (Marfan Syndrome-like) – Full mutation screen + MLPA
  93. 80821 | Alpha & Beta Thalassaemia ALL IN ONE TEST – 68 Mutations covering South-East Asian, Arab and Indian populations
  94. 80822 | Beta Thalassaemia ALL IN ONE TEST – 47 Mutations covering South-East Asian, Arab and Indian populations
  95. 80823 | Alpha Thalassaemia ALL IN ONE TEST – 21 Mutations covering Mediterranean, South-East Asian, Arab and Indian populations
  96. 80824 | Beta Thalassaemia – 22 Mutations covering all major common Mediterranean populations
  97. 80825 | Beta Thalassaemia – 22 Mutations covering all major common South-East Asian populations
  98. 80826 | Beta Thalassaemia – 22 Mutations covering all major common Arab and Indian populations
  99. 80830 | Transient neonatal diabetes mellitus (TNDM) – Chromosome 6 microsatellite analysis for UPD, 6q24 methylation analysis
  100. 80840 | Metastatic Colorectal Cancer, response to Cetuximab: KRAS codons 12,13 & 61 – Pyro and Fluorescent DHPLC
  101. 80850 | Metastatic Colorectal Cancer, response to Cetuximab: KRAS codons 12,13 & 61 + BRAF – Pyro and Fluorescent DHPLC
  102. 80860 | Metastatic Colorectal Cancer, response to Cetuximab: BRAF (V600E) – Pyro and Fluorescent DHPLC
  103. 80870 | Non-small Cell Lung Carcinoma (NSCLC) response to Gefitinib / Erlotinib: EGFR exons 18-21 – Pyro and gene fragment analysis
  104. 80880 | UPD studies for clinically significant chromosomes – Microsatellite analysis
  105. 80890 | UPD 14 analysis – Chromosome 14 – Microsatellite analysis
  106. 80891 | Von Hippel Lindau – 3 exons sequencing and MLPA
  107. 80900 | Witkop Syndrome MSX1 – Full mutation screen
  108. 80910 | X-inactivation studies (e.g. agammaglobulinaemia,SCID, Wiskott-Aldrich) – Methylation analysis
  109. 80920 | X-linked Ichthyosis – Deletion analysis by MLPA
  110. 80930 | Y microdeletions (AZFa, b, and c) – Marker multiplex analysis

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