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MediChecks provides online health screening and blood testing services for over 1200 conditions, assessed by accredited laboratories, and actioned by you ...
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  Genetic tests. Blood tests, urine tests and health screening

genetic tests


We hope that you find our comprehensive range of genetic blood tests, genetic urine tests, genetic stool tests and health screens to be of use.

MediChecks also offer other types of blood, urine and stool tests which are aimed at medical conditions and diseases like sexually transmitted diseases, diabetes, anaemia, thyroid, cancer, allergies, hiv. Health screening tests include mens health, womens health, sexual health, nutrition, hormone tests, cardiovascular health and travel health.

We are able to tailor a specific group of blood, urine and stool tests to suit your individual screening needs. Health information and advice is available on a range of issues from diet and exercise to general well being and lifestyle.

MediChecks' medical glossary is a useful health and medical information source. Learn about how your blood is composed and what is blood.

Please do not hesitate to contact us should you not be able to locate a specific genetic blood test or health screen.

For all company health screening, occupational health checks and pre-emplyment tests, please visit MediChecks.com's Corporate Health Screening site or call us for further information on how we can benefit your organisation.


  22q11 Deletion  
  Achondroplasia - 2 common mutations in FGFR3 (c.1138G>A + c.1138G>C)  
  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 - methylation PCR  
  Angelman Syndrome - UBE3A hotspot sequencing  
  Angelmann's syndrome (karyotype FISH)  
  Ashkenazi Jewish Screen  
  Bannayan-Riley-Ruvalcaba Syndrome (BRRS) - PTEN sequencing  
  Becker Muscular Dystrophy - deletions/duplications  
  Bloom Syndrome  
  BRCA1 and 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 (with fragile X)  
  Chromosome Analysis (amniotic fluid)  
  Chromosome Analysis (blood)  
  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  
  Factor XIII  
  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 Karyotype  
  Fragile X Syndrome screen (FMR1 repeat analysis)  
  Friedreich Ataxia - FXN repeat analysis  
  Gaucher Disease  
  Genetic Reproductive 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  
  Interferon Gamma  
  Interleukin 1 Beta  
  Interleukin 10  
  Interleukin 2  
  Interleukin 6  
  Interleukin 8  
  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  
  Miller Dieker Syndrome  
  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 (karyotype and FISH)  
  Prader Willi Syndrome (M PCR)  
  Pre Travel Screen  
  Pseudoachondroplasia - COMP hotspot sequencing  
  Recurrent Miscarriage Profile  
  Reilly Day Syndrome (Familial Dysautonomia) - 2 common Ashkenazi mutations (p.R696P + c.2204+6T>C)  
  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  
  Telomeric Screen  
  Thrombotic Risk Profile  
  Torsion Dystonia (DYT1) - TOR1A common mutation c.904-906delGAG  
  Trisomy Analysis  
  Uni parental Disomy (UPD) - parents and child  
  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)  
 


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