Full List of Genetic Tests

All 23,000 Genes, Whole Genome or 1 Gene at a Time – Your Choice

  1. 10001 | Any 5 genes – full exon sequencing
  2. 10010 | Whole-Genome 60K array test – Oxford Gene Technology array – ISCA and Emory design for 413 Genetic Disorders
  3. 10020 | Whole-Genome 180K array test – Oxford Gene Technology array – ISCA and Emory design for 413 Genetic Disorders
  4. 10030 | UPD 180K array test – ISCA and Emory design
  5. 10040 | Whole-Genome 60K array test – Recurrent Miscarriage Diagnosis
  6. 10090 | Whole-Exome 30X Coverage – standard analysis
  7. 10091 | Whole-Exome 30X Coverage – standard analysis including full Clinical diagnosis report. MD signed clinical diagnosis report. Includes reporting of variants related to clinical phenotype, variant filtering and reporting of carrier status for autosomal recessive markers.
  8. 10100 | Whole-Exome 50X Coverage – standard analysis
  9. 10110 | Whole-Exome 50X Coverage – advanced trio analysis
  10. 10120 | Clinical diagnosis report for Exome. MD signed clinical diagnosis report. Includes reporting of variants related to clinical phenotype, variant filtering and reporting of carrier status for autosomal recessive markers.
  11. 10121 | Clinical diagnosis report for Exome. Advanced report. MD signed clinical diagnosis report. FULL VERSION, including all items of STANDARD report and: Pharmacogenetic marker analysis, carrier status for recessive Mendelian disorders and full list of variants.
  12. 10130 | Full clinical diagnostic test. Includes Exome sequencing (SNPs/Indels), 180K microarray for (Deletions and Amplifications) and MD signed STANDARD clinical diagnosis report. Includes reporting of variants related to clinical phenotype and reason for referral.
  13. 10131 | Full clinical diagnostic test. Includes Exome sequencing (SNPs/Indels), 180K microarray for (Deletions and Amplifications) and MD signed clinical diagnosis report. FULL VERSION, including all items of STANDARD report and: Pharmacogenetic marker analysis, carrier status for recessive Mendelian disorders and full list of variants.
  14. 20010 | Non-invasive pre-natal sex determination test
  15. 20020 | Non-invasive pre-natal paternity test
  16. 20030 | MaterniT21 Plus – Sequenom – Non-invasive pre-natal Down’s Syndrome + Trisomy Ch 13 and Ch 18 Test + Y Chromosome
  17. 20031 | Non-invasive Rhesus Test
  18. 30010 | CCMC Array Leukaemia
  19. 80000 | Custom test for any genetic marker not on list
  20. 80010 | Achondroplasia – 2 common mutations of FGFR3 (1138 G>A/C)
  21. 80020 | Marfan Syndrome-like – ACTA2 – Full mutation screen
  22. 80030 | Adrenal Hypoplasia, Congenital X-linked (DAX1) – Full mutation analysis + MLPA
  23. 80040 | Alpha 1 – antitrypsin deficiency – 2 common mutations (S&Z)
  24. 80050 | Angelman syndrome – Methylation, UPD & deletion analysis
  25. 80060 | Aniridia (PAX6) – Full intragenic mutation screen
  26. 80070 | Anophthalmia/Microphalmia – BMP4 – Full mutation screen
  27. 80080 | Anophthalmia/Microphalmia – OTX2 – Full mutation screen
  28. 80090 | Anophthalmia/Microphalmia – PITX2 – Full mutation screen
  29. 80100 | Anophthalmia/Microphalmia – TFAP2A – Full mutation screen
  30. 80110 | Anophthalmia/Microphalmia – Dosage analysis
  31. 80120 | Autism associated with PWACR duplication – FISH/dosage PCR
  32. 80130 | Beckwith Wiedemann syndrome – 11p15 microsatellite analysis for UPD; 11p15 methylation analysis of ICR1 and ICR2; 11p15 MLPA analysis.
  33. 80140 | BCR/ABL kinase mutations – Limited mutation screen
  34. 80150 | BPES (FOXL2) Full mutation screen + MLPA
  35. 80160 | Breast/ovarian cancer full mutation screen of BRCA1 and BRCA2 – including dosage analysis by MLPA
  36. 80170 | Breast/ovarian cancer mutation screen of known BRCA1 and BRCA2 mutations
  37. 80180 | CAVD/CBAVD – CF mutations inc Poly T
  38. 80190 | Charcot Marie Tooth disease CMT1A – Duplication analysis
  39. 80200 | CMT1B (PO) (MPZ) – Full mutation screen
  40. 80210 | X-linked CMT – Full mutation analysis of Cx32
  41. 80220 | Cystic Fibrosis – 32 most common mutations
  42. 80230 | DAX1 – Full genetic screen
  43. 80240 | Di George Syndrome – MLPA 22q, 10/20p, 8p, 4q
  44. 80250 | Duchenne/Becker Muscular Dystrophy (deletion,duplication, carrier test) Full
  45. 80260 | Duchenne/Becker Muscular Dystrophy (deletion,duplication, carrier test) Carrier
  46. 80270 | Duplications of PWACR – FISH/dosage PCR
  47. 80280 | Factor V Leiden
  48. 80290 | Familial Hypercholesterolaemia – LDLR, APOB, PCSK9; Common 20 mutation screen, 40% of mutations
  49. 80300 | Familial Hypercholesterolaemia – LDLR full sequence analysis and MLPA
  50. 80310 | Fukutin-related protein (FKRP) – Common mutation screen
  51. 80320 | FLT 3 – Common duplication
  52. 80330 | Fragile X syndrome (FRAXA and FRAXE) – PCR expansion screen – Expansion analysis
  53. 80340 | Fragile X syndrome (FRAXA and FRAXE) – Southern blot analysis – Expansion analysis
  54. 80350 | Haemochromatosis – 2 common mutations
  55. 80360 | Hereditary neuropathy with liability to pressure palsies (HNPP) (17p11.2) – MLPA
  56. 80370 | Hereditary Non Polyposis Colon Cancer (HNPCC) – Full mutation screen of hMLH1 and hMSH2
  57. 80380 | Hereditary Non Polyposis Colon Cancer (HNPCC) – Dosage by MLPA
  58. 80390 | Hereditary Non Polyposis Colon Cancer (HNPCC) – Full mutation screen of hMSH6
  59. 80400 | Huntington Disease (HD) PCR expansion screen 1 PCR
  60. 80410 | Huntington Disease (HD) PCR expansion screen 2 PCR
  61. 80420 | Hypochondroplasia – Specific mutation 1620C>A
  62. 80430 | JAK 2 – V617F mutation
  63. 80440 | Leukaemia translocations – Multiple RT-PCR for 29 translocation mutations
  64. 80450 | Mowat Wilson Syndrome – Full mutation screen
  65. 80460 | Marfan syndrome – Full mutation screen of FBN1 Full Mutation screening by CSCE, SNPlex and MLPA
  66. 80470 | Marfan syndrome – Testing for known mutations
  67. 80480 | Multiple Exostoses – Full mutation screen
  68. 80490 | MYH11 (Marfan Syndrome-like) – Full mutation screen
  69. 80500 | Myocilin – Mutation screening
  70. 80510 | Myotonic Dystrophy (MyD) – PCR expansion screen
  71. 80520 | Myotonic Dystrophy (MyD) – Southern blot analysis
  72. 80530 | Neurofibromatosis (NF1) and Neurofibromatosis-Like Syndrome (NFLS) – Combined full mutation screen of NF1 and SPRED1
  73. 80540 | Neurofibromatosis (NF1) and Neurofibromatosis-Like Syndrome (NFLS) – Testing for known mutations
  74. 80550 | NPM1 – Nucleophosmin/Nucleoplasmin Family member 1 – Exon 11 mutations
  75. 80560 | Non-syndromic Deafness (DFNBI) – Common mutation 35delG (Cx26)
  76. 80561 | Noonan 1 – 7 exons of the PTPN11 gene (2, 3, 4, 7, 8, 12 and 13) which account for 45% of cases
  77. 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
  78. 80570 | Oculopharyngeal Muscular Dystrophy (OPMD) – Expansion analysis
  79. 80580 | PAX 6 – Full intragenic mutation screen
  80. 80590 | PAX 6 – Full intragenic mutation screen + FISH
  81. 80600 | PAX 6 – Testing for known mutations
  82. 80610 | Pseudohypoparathyroidism/GNAS – GNAS methylation, NESP55, STX16 deletions
  83. 80620 | Prader-Willi syndrome – Methylation, UPD & deletion analysis
  84. 80630 | Progressive myoclonus epilepsy type 1 (EPM1) (UVL) – Dodecamer repeat expansion analysis
  85. 80640 | Progressive myoclonus epilepsy type 1 (EPM1) (UVL) – Point mutation analysis
  86. 80650 | Prothrombin – P20210/20A analysis
  87. 80660 | PTEN gene mutation analysis – Full mutation analysis + MLPA
  88. 80670 | RETT Syndrome (MECP2) – Full mutation analysis + MLPA
  89. 80680 | RETT Syndrome (MECP2) – Testing for known mutations
  90. 80690 | Rubinstein Taybi Syndrome (CREBBP) – Full intragenic mutation screen and dosage by MLPA
  91. 80700 | Rubinstein Taybi Syndrome (CREBBP) – Testing for known mutations
  92. 80710 | Sex determination of CVS samples for molecular analysis – Amelogenin, SRY
  93. 80720 | Short stature gene analysis (SHOX) – Full mutation screen
  94. 80730 | Short stature gene analysis (SHOX) – MLPA Dosage analysis
  95. 80740 | Silver-Russell Syndrome – 11p15 methylation analysis of ICR1 MSMLPA analysis
  96. 80750 | Smith-Magenis Syndrome (RAI1) – Full mutation screen + MLPA
  97. 81090 | BPES (FOXL2) Full mutation screen + MLPA
  98. 80760 | SOX2 (Anophthalmia) – Full mutation screen + MLPA
  99. 80770 | Spinal Muscular Atrophy (SMN1) – Deletion analysis (exons 7 and 8)
  100. 81120 | H1N1 panel (Influenza A and Novel H1N1 subtype)
  101. 80780 | Steroid sulphatase deficiency (STS) – Deletion analysis by MLPA
  102. 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
  103. 80950 | Paternity Test Invasive Post-natal – Blood from Mother, Alleged Father and Child
  104. 81160 | HSV detection & Viral load
  105. 80800 | TAAD (Thoracic Aortic Aneurism Dissection) – Testing for known mutations
  106. 80810 | TGFBR1(Marfan Syndrome-like) – Full mutation screen + MLPA
  107. 80980 | Grandparentage Testing – Both paternal grandparents w/mother
  108. 81200 | Hepatitis B virus (detection and quantitation)
  109. 80820 | TGFB2 (Marfan Syndrome-like) – Full mutation screen + MLPA
  110. 80821 | Alpha & Beta Thalassaemia ALL IN ONE TEST – 68 Mutations covering South-East Asian, Arab and Indian populations
  111. 80822 | Beta Thalassaemia ALL IN ONE TEST – 47 Mutations covering South-East Asian, Arab and Indian populations
  112. 80823 | Alpha Thalassaemia ALL IN ONE TEST – 21 Mutations covering Mediterranean, South-East Asian, Arab and Indian populations
  113. 80824 | Beta Thalassaemia – 22 Mutations covering all major common Mediterranean populations
  114. 80825 | Beta Thalassaemia – 22 Mutations covering all major common South-East Asian populations
  115. 80826 | Beta Thalassaemia – 22 Mutations covering all major common Arab and Indian populations
  116. 80830 | Transient neonatal diabetes mellitus (TNDM) – Chromosome 6 microsatellite analysis for UPD, 6q24 methylation analysis
  117. 80840 | Metastatic Colorectal Cancer, response to Cetuximab: KRAS codons 12,13 & 61 – Pyro and Fluorescent DHPLC
  118. 80850 | Metastatic Colorectal Cancer, response to Cetuximab: KRAS codons 12,13 & 61 + BRAF – Pyro and Fluorescent DHPLC
  119. 80860 | Metastatic Colorectal Cancer, response to Cetuximab: BRAF (V600E) – Pyro and Fluorescent DHPLC
  120. 80870 | Non-small Cell Lung Carcinoma (NSCLC) response to Gefitinib / Erlotinib: EGFR exons 18-21 – Pyro and gene fragment analysis
  121. 80880 | UPD studies for clinically significant chromosomes – Microsatellite analysis
  122. 80890 | UPD 14 analysis – Chromosome 14 – Microsatellite analysis
  123. 80891 | Von Hippel Lindau – 3 exons sequencing and MLPA
  124. 80900 | Witkop Syndrome MSX1 – Full mutation screen
  125. 80910 | X-inactivation studies (e.g. agammaglobulinaemia,SCID, Wiskott-Aldrich) – Methylation analysis
  126. 80920 | X-linked Ichthyosis – Deletion analysis by MLPA
  127. 80930 | Y microdeletions (AZFa, b, and c) – Marker multiplex analysis
  128. 80940 | Paternity Test Invasive Pre-natal – CVS Amnio + Father’s blood
  129. 80950 | Paternity Test Invasive Post-natal – Blood from Mother, Alleged Father and Child
  130. 80960 | Paternity Test Invasive Post-natal – Blood from Alleged Father and Child
  131. 80970 | Maternity Test Invasive Post-natal – Blood from Mother and Child
  132. 80971 | Paternity Test LEGAL 25 LOCI
  133. 80980 | Grandparentage Testing – Both paternal grandparents w/mother
  134. 80990 | Grandparentage Testing – Both paternal grandparents wo/mother
  135. 81000 | Full Siblingship Study – Two alleged full sibs w/common parent
  136. 81010 | Full Siblingship Study – Two alleged full sibs w/o common parent
  137. 81020 | Tuberous Sclerosis – Sequencing and dosage analysis of TSC1 exons 3-23 and TSC2 exons 1-41
  138. 81030 | Half Siblingship Study – Two Alleged Half Sibs
  139. 81040 | Tuberous Sclerosis Parental Testing for specific mutation
  140. 81050 | Twin Zygosity – Determine Fraternal or Identical
  141. 81060 | Incontinentia Pigmenti (IP) PCR-based test for common mutations
  142. 81070 | Avuncular Test – Uncle/Aunt/Neice/Nephew
  143. 81080 | Incontinentia Pigmenti (IP) sequencing of exons 2-10 of the NEMO/IKBKG gene
  144. 81090 | BPES (FOXL2) Full mutation screen + MLPA
  145. 81100 | Paternal Ancestry Testing (Y-STR)
  146. 81110 | Ancestry by DNA
  147. 81120 | H1N1 panel (Influenza A and Novel H1N1 subtype)
  148. 81130 | Dengue virus (detection & serotyping)
  149. 81140 | Chikungunya virus
  150. 81150 | CMV (detection and Quantitation)
  151. 81160 | HSV detection & Viral load
  152. 81170 | HSV-1 and HSV-2 differentiation
  153. 81180 | HSV Viral load & Differentiation (Types 1 & 2)
  154. 81190 | BK virus
  155. 81200 | Hepatitis B virus (detection and quantitation)
  156. 81210 | Hepatitis C virus detection
  157. 81220 | Hepatitis C virus quantitation
  158. 81230 | VZV (detection and Quantitation)
  159. 81240 | MRSA
  160. 81250 | Melioidosis
  161. 81260 | Chlamydia trachomatis/ Neisseria gonorrhoea (CT/NG)
  162. 81270 | Chlamydia trachomatis/ Neisseria gonorhea/ Mycoplasma genitalium/ Trichomonas vaginalis (CT/NG/MG/TV)
  163. 81280 | HIV detection and viral load
  164. 81290 | Toxoplasma gondii detection
  165. 81300 | Mycoplasma pneumoniae detection
  166. 81310 | Adenovirus detection
  167. 81320 | Human Papiloma virus (HPV) Genotyping (33 genotypes)
  168. 81330 | Leptospirosis detection
  169. 81340 | Bordetella pertussis detection
  170. 81350 | Brucellosis detection
  171. 81360 | Epstein Barr virus (EBV) Detection Viral load
  172. 81370 | RV 16 (Adenovirus, Influenza A & B virus, Parainfluenza virus1, 2, 3 & 4, Rhinovirus A/B/C, RSV A & B, Bocavirus 1/2/3/4, Metapneumovirus, Coronavirus 229E, Coronavirus NL63 & OC43, and Enterovirus)
  173. 90020 | CardioSURE – Cardiac Risk Genetic Markers Test

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