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Genetic

Choose from a wide range of Genetic tests. All of the following Genetic tests are available direct to you, anywhere in the UK.

If there are any Genetic tests which are not listed here, please try and search for them under the 'A-Z of Tests' located on the right of this page.

• 22q11 Deletion

• Alpha 1 Antitrypsin Genotype

• Alpha Feto Protein (amniotic fluid)

• Amnio PCR

• Amniocentesis Culture

• Androgen Insensitivity Diagnosis (AR sequencing + deletions/duplications)

• Angelman syndrome (UPD 15)

• Angelman Syndrome - UBE3A hotspot sequencing

• Angelmann's syndrome (karyotype FISH)

• Ashkenasi Jewish Screen

• Bannayan-Riley-Ruvalcaba Syndrome (BRRS) - PTEN sequencing

• Bloom Syndrome

• BRCA1 & BRCA2

• Breast Cancer Genetic Test

• CADASIL - NOTCH 3 Common mutations

• Canavan Disease - 2 common Ashkenazi mutations p.Y231X + p.E285A

• Charcot Marie Tooth Syndrome

• Chromosome Analysis ((blood))

• Chromosome Analysis (amniotic fluid)

• Chromosome Analysis (culture)

• Chromosome Analysis (fixed slide)

• Chromosome Analysis (marrow aspirate)

• Chromosome Analysis (PCR and culture)

• Chromosome Y Deletion

• Congenital absence of vas deferens (CF and polyT 5T and Y deletions)

• Connexin 26

• Cowden Syndrome - PTEN sequencing

• Cri du Chat (karyotype FISH)

• Cystic Fibrosis (7 Ashkenazi Jewish mutations)

• Cystic Fibrosis Screen

• deafness - Connexin-26 sequencing + Connexin-30 common deletion

• Deep Vein Thrombosis Risk Assessment

• Di George Syndrome

• Downs Risk Profile 1

• Downs Risk Profile 2

• Duchenne Muscular Dystrophy (male female common deletions and duplications)

• DVT Screen

• Ectrodactyly-Ectodermal Dysplasia-Clefting (Hay-Wells) - TP63 hotspot sequencing

• Fabry Disease

• Facioscapulohumeral Muscular Dystrophy

• Factor II Prothrombin (gene G20210A)

• Factor V Leiden

• Factor VIII (Haemophilia A) - detection of known mutation in a relative

• Factor VIII (Haemophilia A) - sequencing

• Factor VIII Assay

• Familial Adenomatous Polyposis (FAP) - APC gene sequencing

• Familial Cutaneous Malignant Melanoma - CDKN2A + CDK4 exon 2 sequencing

• Familial Hibernian Fever (TRAPS) - TNFRSF1A hotspot sequencing

• Familial Mediterranean Fever (MEFV hotspot sequencing)

• Fanconi's Anaemia

• FK506 (Tacrolimus)

• Fragile X Syndrome screen (FMR1 repeat analysis)

• Friedreich Ataxia - FXN repeat analysis

• Gaucher Disease

• Genetic Reporoductive Profile

• Glycogen Storage Disease

• Gorlin Syndrome (pTCH)

• Haemochromatosis

• Haemophilia B (Factor IX) - mutation screen

• Hay-Wells (Ectrodactyly-Ectodermal Dysplasia-Clefting) - hotspot TP63 sequencing

• Hereditary Neuropathy with Liability to pressure palsy gene Tier 1 - PMP22 deletion analysis

• Hereditary Non-Polyposis Colon Cancer (HNPCC) - MLH1+MSH2+MSH6 sequencing

• HLA B27

• HLA Tissue Type A, B, Cw, DRB1, DQB1

• HLA Tissue Typing A

• HLA Tissue Typing A, B

• HLA Tissue Typing B

• HLA Tissue Typing B27

• HLA Tissue Typing DR/DRQ

• HLA Tissue Typing Narcolepsy

• Human Parvovirus B19 DNA

• Huntingtons Disease

• Hyper-lgD Syndrome - MVK hotspot sequencing

• Incontinentia Pigmenti - NEMO common mutation

• Interleukin 1 Beta

• Jak 2 (V617F mutation)

• Kennedy Disease (Spinal Bulbar Muscular Atrophy AR repeat expansion)

• Lebers Hereditary Optic Neuropathy - LHON

• Long QT Syndrome Panel - KCNQ1+HERG+KCNE1+SCN5A+KCNE2 (sequencing of 20 hotspot exons)

• Marfan Syndrome - FBN1 sequencing + deletions/duplications

• Miscarriage Profile

• Mitochondrial Myopathy - 13 common mutations + DNA rearrangements

• MTHFR Variant

• Multiple Endocrine Nepoplasia Type 2B - RET hotspot sequencing

• Multiple Epiphyseal Dysplasia - COMP hotspot sequencing

• Mycoplasma PCR

• Myotonic Dystrophy Type 1 - DMPK repeat analysis

• Narcolepsy

• Noonan Syndrome Tier 1 - PTPN2 sequencing

• Oculopharyngeal Muscular Dystrophy - PABPN1 repeat analysis

• Parvovirus B19 DNA

• Paternity Test

• Peutz-Jeghers Syndrome - STK11 sequencing

• Poly T

• Post Natal Paternity Test

• Prader Willi (UPD 15)

• Prader Willi Syndrome (M PCR)

• Pre Travel Screen

• Pseudoachondroplasia - COMP hotspot sequencing

• Recurrent Miscarriage Profile

• Rett Syndrome - MECP2 sequencing

• Rubella Virus (PCR)

• Smith Magennis Syndrome

• Sotos Syndrome (Cerebral Gigantism) - NSD1 sequencing + deletions/duplications

• Spinal Muscular Atrophy

• SRY Gene

• Tacrolimus (FK506)

• Tay Sachs Screen

• Thrombotic Risk Profile

• Torsion Dystonia (DYT1) - TOR1A common mutation c.904-906delGAG

• Trisomy Analysis

• Vohwinkel Syndrome - Connexin 26 sequencing

• Von Hippel-Lindau Syndrome

• Werdnig Hoffman Disease

• Williams Syndrome (karyotype and FISH)

• Wolf Hirschorn Syndrome (karyotype FISH)

• X-linked Hydrocephalus/MASA Syndrome - L1-CAM sequencing

• Y Chromosome Deletion

• Zygosity Testing (comparative DNA profile)