All 23,000 Genes, Whole Genome or 1 Gene at a Time – Your Choice
- 10001 | Any 5 genes – full exon sequencing
- 10010 | Whole-Genome 60K array test – Oxford Gene Technology array – ISCA and Emory design for 413 Genetic Disorders
- 10020 | Whole-Genome 180K array test – Oxford Gene Technology array – ISCA and Emory design for 413 Genetic Disorders
- 10030 | UPD 180K array test – ISCA and Emory design
- 10040 | Whole-Genome 60K array test – Recurrent Miscarriage Diagnosis
- 10090 | Whole-Exome 30X Coverage – standard analysis
- 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.
- 10100 | Whole-Exome 50X Coverage – standard analysis
- 10110 | Whole-Exome 50X Coverage – advanced trio analysis
- 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.
- 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.
- 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.
- 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.
- 20010 | Non-invasive pre-natal sex determination test
- 20020 | Non-invasive pre-natal paternity test
- 20030 | MaterniT21 Plus – Sequenom – Non-invasive pre-natal Down’s Syndrome + Trisomy Ch 13 and Ch 18 Test + Y Chromosome
- 20031 | Non-invasive Rhesus Test
- 30010 | CCMC Array Leukaemia
- 80000 | Custom test for any genetic marker not on list
- 80010 | Achondroplasia – 2 common mutations of FGFR3 (1138 G>A/C)
- 80020 | Marfan Syndrome-like – ACTA2 – Full mutation screen
- 80030 | Adrenal Hypoplasia, Congenital X-linked (DAX1) – Full mutation analysis + MLPA
- 80040 | Alpha 1 – antitrypsin deficiency – 2 common mutations (S&Z)
- 80050 | Angelman syndrome – Methylation, UPD & deletion analysis
- 80060 | Aniridia (PAX6) – Full intragenic mutation screen
- 80070 | Anophthalmia/Microphalmia – BMP4 – Full mutation screen
- 80080 | Anophthalmia/Microphalmia – OTX2 – Full mutation screen
- 80090 | Anophthalmia/Microphalmia – PITX2 – Full mutation screen
- 80100 | Anophthalmia/Microphalmia – TFAP2A – Full mutation screen
- 80110 | Anophthalmia/Microphalmia – Dosage analysis
- 80120 | Autism associated with PWACR duplication – FISH/dosage PCR
- 80130 | Beckwith Wiedemann syndrome – 11p15 microsatellite analysis for UPD; 11p15 methylation analysis of ICR1 and ICR2; 11p15 MLPA analysis.
- 80140 | BCR/ABL kinase mutations – Limited mutation screen
- 80150 | BPES (FOXL2) Full mutation screen + MLPA
- 80160 | Breast/ovarian cancer full mutation screen of BRCA1 and BRCA2 – including dosage analysis by MLPA
- 80170 | Breast/ovarian cancer mutation screen of known BRCA1 and BRCA2 mutations
- 80180 | CAVD/CBAVD – CF mutations inc Poly T
- 80190 | Charcot Marie Tooth disease CMT1A – Duplication analysis
- 80200 | CMT1B (PO) (MPZ) – Full mutation screen
- 80210 | X-linked CMT – Full mutation analysis of Cx32
- 80220 | Cystic Fibrosis – 32 most common mutations
- 80230 | DAX1 – Full genetic screen
- 80240 | Di George Syndrome – MLPA 22q, 10/20p, 8p, 4q
- 80250 | Duchenne/Becker Muscular Dystrophy (deletion,duplication, carrier test) Full
- 80260 | Duchenne/Becker Muscular Dystrophy (deletion,duplication, carrier test) Carrier
- 80270 | Duplications of PWACR – FISH/dosage PCR
- 80280 | Factor V Leiden
- 80290 | Familial Hypercholesterolaemia – LDLR, APOB, PCSK9; Common 20 mutation screen, 40% of mutations
- 80300 | Familial Hypercholesterolaemia – LDLR full sequence analysis and MLPA
- 80310 | Fukutin-related protein (FKRP) – Common mutation screen
- 80320 | FLT 3 – Common duplication
- 80330 | Fragile X syndrome (FRAXA and FRAXE) – PCR expansion screen – Expansion analysis
- 80340 | Fragile X syndrome (FRAXA and FRAXE) – Southern blot analysis – Expansion analysis
- 80350 | Haemochromatosis – 2 common mutations
- 80360 | Hereditary neuropathy with liability to pressure palsies (HNPP) (17p11.2) – MLPA
- 80370 | Hereditary Non Polyposis Colon Cancer (HNPCC) – Full mutation screen of hMLH1 and hMSH2
- 80380 | Hereditary Non Polyposis Colon Cancer (HNPCC) – Dosage by MLPA
- 80390 | Hereditary Non Polyposis Colon Cancer (HNPCC) – Full mutation screen of hMSH6
- 80400 | Huntington Disease (HD) PCR expansion screen 1 PCR
- 80410 | Huntington Disease (HD) PCR expansion screen 2 PCR
- 80420 | Hypochondroplasia – Specific mutation 1620C>A
- 80430 | JAK 2 – V617F mutation
- 80440 | Leukaemia translocations – Multiple RT-PCR for 29 translocation mutations
- 80450 | Mowat Wilson Syndrome – Full mutation screen
- 80460 | Marfan syndrome – Full mutation screen of FBN1 Full Mutation screening by CSCE, SNPlex and MLPA
- 80470 | Marfan syndrome – Testing for known mutations
- 80480 | Multiple Exostoses – Full mutation screen
- 80490 | MYH11 (Marfan Syndrome-like) – Full mutation screen
- 80500 | Myocilin – Mutation screening
- 80510 | Myotonic Dystrophy (MyD) – PCR expansion screen
- 80520 | Myotonic Dystrophy (MyD) – Southern blot analysis
- 80530 | Neurofibromatosis (NF1) and Neurofibromatosis-Like Syndrome (NFLS) – Combined full mutation screen of NF1 and SPRED1
- 80540 | Neurofibromatosis (NF1) and Neurofibromatosis-Like Syndrome (NFLS) – Testing for known mutations
- 80550 | NPM1 – Nucleophosmin/Nucleoplasmin Family member 1 – Exon 11 mutations
- 80560 | Non-syndromic Deafness (DFNBI) – Common mutation 35delG (Cx26)
- 80561 | Noonan 1 – 7 exons of the PTPN11 gene (2, 3, 4, 7, 8, 12 and 13) which account for 45% of cases
- 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
- 80570 | Oculopharyngeal Muscular Dystrophy (OPMD) – Expansion analysis
- 80580 | PAX 6 – Full intragenic mutation screen
- 80590 | PAX 6 – Full intragenic mutation screen + FISH
- 80600 | PAX 6 – Testing for known mutations
- 80610 | Pseudohypoparathyroidism/GNAS – GNAS methylation, NESP55, STX16 deletions
- 80620 | Prader-Willi syndrome – Methylation, UPD & deletion analysis
- 80630 | Progressive myoclonus epilepsy type 1 (EPM1) (UVL) – Dodecamer repeat expansion analysis
- 80640 | Progressive myoclonus epilepsy type 1 (EPM1) (UVL) – Point mutation analysis
- 80650 | Prothrombin – P20210/20A analysis
- 80660 | PTEN gene mutation analysis – Full mutation analysis + MLPA
- 80670 | RETT Syndrome (MECP2) – Full mutation analysis + MLPA
- 80680 | RETT Syndrome (MECP2) – Testing for known mutations
- 80690 | Rubinstein Taybi Syndrome (CREBBP) – Full intragenic mutation screen and dosage by MLPA
- 80700 | Rubinstein Taybi Syndrome (CREBBP) – Testing for known mutations
- 80710 | Sex determination of CVS samples for molecular analysis – Amelogenin, SRY
- 80720 | Short stature gene analysis (SHOX) – Full mutation screen
- 80730 | Short stature gene analysis (SHOX) – MLPA Dosage analysis
- 80740 | Silver-Russell Syndrome – 11p15 methylation analysis of ICR1 MSMLPA analysis
- 80750 | Smith-Magenis Syndrome (RAI1) – Full mutation screen + MLPA
- 81090 | BPES (FOXL2) Full mutation screen + MLPA
- 80760 | SOX2 (Anophthalmia) – Full mutation screen + MLPA
- 80770 | Spinal Muscular Atrophy (SMN1) – Deletion analysis (exons 7 and 8)
- 81120 | H1N1 panel (Influenza A and Novel H1N1 subtype)
- 80780 | Steroid sulphatase deficiency (STS) – Deletion analysis by MLPA
- 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
- 80950 | Paternity Test Invasive Post-natal – Blood from Mother, Alleged Father and Child
- 81160 | HSV detection & Viral load
- 80800 | TAAD (Thoracic Aortic Aneurism Dissection) – Testing for known mutations
- 80810 | TGFBR1(Marfan Syndrome-like) – Full mutation screen + MLPA
- 80980 | Grandparentage Testing – Both paternal grandparents w/mother
- 81200 | Hepatitis B virus (detection and quantitation)
- 80820 | TGFB2 (Marfan Syndrome-like) – Full mutation screen + MLPA
- 80821 | Alpha & Beta Thalassaemia ALL IN ONE TEST – 68 Mutations covering South-East Asian, Arab and Indian populations
- 80822 | Beta Thalassaemia ALL IN ONE TEST – 47 Mutations covering South-East Asian, Arab and Indian populations
- 80823 | Alpha Thalassaemia ALL IN ONE TEST – 21 Mutations covering Mediterranean, South-East Asian, Arab and Indian populations
- 80824 | Beta Thalassaemia – 22 Mutations covering all major common Mediterranean populations
- 80825 | Beta Thalassaemia – 22 Mutations covering all major common South-East Asian populations
- 80826 | Beta Thalassaemia – 22 Mutations covering all major common Arab and Indian populations
- 80830 | Transient neonatal diabetes mellitus (TNDM) – Chromosome 6 microsatellite analysis for UPD, 6q24 methylation analysis
- 80840 | Metastatic Colorectal Cancer, response to Cetuximab: KRAS codons 12,13 & 61 – Pyro and Fluorescent DHPLC
- 80850 | Metastatic Colorectal Cancer, response to Cetuximab: KRAS codons 12,13 & 61 + BRAF – Pyro and Fluorescent DHPLC
- 80860 | Metastatic Colorectal Cancer, response to Cetuximab: BRAF (V600E) – Pyro and Fluorescent DHPLC
- 80870 | Non-small Cell Lung Carcinoma (NSCLC) response to Gefitinib / Erlotinib: EGFR exons 18-21 – Pyro and gene fragment analysis
- 80880 | UPD studies for clinically significant chromosomes – Microsatellite analysis
- 80890 | UPD 14 analysis – Chromosome 14 – Microsatellite analysis
- 80891 | Von Hippel Lindau – 3 exons sequencing and MLPA
- 80900 | Witkop Syndrome MSX1 – Full mutation screen
- 80910 | X-inactivation studies (e.g. agammaglobulinaemia,SCID, Wiskott-Aldrich) – Methylation analysis
- 80920 | X-linked Ichthyosis – Deletion analysis by MLPA
- 80930 | Y microdeletions (AZFa, b, and c) – Marker multiplex analysis
- 80940 | Paternity Test Invasive Pre-natal – CVS Amnio + Father’s blood
- 80950 | Paternity Test Invasive Post-natal – Blood from Mother, Alleged Father and Child
- 80960 | Paternity Test Invasive Post-natal – Blood from Alleged Father and Child
- 80970 | Maternity Test Invasive Post-natal – Blood from Mother and Child
- 80971 | Paternity Test LEGAL 25 LOCI
- 80980 | Grandparentage Testing – Both paternal grandparents w/mother
- 80990 | Grandparentage Testing – Both paternal grandparents wo/mother
- 81000 | Full Siblingship Study – Two alleged full sibs w/common parent
- 81010 | Full Siblingship Study – Two alleged full sibs w/o common parent
- 81020 | Tuberous Sclerosis – Sequencing and dosage analysis of TSC1 exons 3-23 and TSC2 exons 1-41
- 81030 | Half Siblingship Study – Two Alleged Half Sibs
- 81040 | Tuberous Sclerosis Parental Testing for specific mutation
- 81050 | Twin Zygosity – Determine Fraternal or Identical
- 81060 | Incontinentia Pigmenti (IP) PCR-based test for common mutations
- 81070 | Avuncular Test – Uncle/Aunt/Neice/Nephew
- 81080 | Incontinentia Pigmenti (IP) sequencing of exons 2-10 of the NEMO/IKBKG gene
- 81090 | BPES (FOXL2) Full mutation screen + MLPA
- 81100 | Paternal Ancestry Testing (Y-STR)
- 81110 | Ancestry by DNA
- 81120 | H1N1 panel (Influenza A and Novel H1N1 subtype)
- 81130 | Dengue virus (detection & serotyping)
- 81140 | Chikungunya virus
- 81150 | CMV (detection and Quantitation)
- 81160 | HSV detection & Viral load
- 81170 | HSV-1 and HSV-2 differentiation
- 81180 | HSV Viral load & Differentiation (Types 1 & 2)
- 81190 | BK virus
- 81200 | Hepatitis B virus (detection and quantitation)
- 81210 | Hepatitis C virus detection
- 81220 | Hepatitis C virus quantitation
- 81230 | VZV (detection and Quantitation)
- 81240 | MRSA
- 81250 | Melioidosis
- 81260 | Chlamydia trachomatis/ Neisseria gonorrhoea (CT/NG)
- 81270 | Chlamydia trachomatis/ Neisseria gonorhea/ Mycoplasma genitalium/ Trichomonas vaginalis (CT/NG/MG/TV)
- 81280 | HIV detection and viral load
- 81290 | Toxoplasma gondii detection
- 81300 | Mycoplasma pneumoniae detection
- 81310 | Adenovirus detection
- 81320 | Human Papiloma virus (HPV) Genotyping (33 genotypes)
- 81330 | Leptospirosis detection
- 81340 | Bordetella pertussis detection
- 81350 | Brucellosis detection
- 81360 | Epstein Barr virus (EBV) Detection Viral load
- 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)
- 90020 | CardioSURE – Cardiac Risk Genetic Markers Test