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