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Platelet Disorders: Prenatal Diagnosis by Sequencing of the entire coding region of gene (s) at Oxford RGC in 3 days

Test Platelet Disorders
Service level Sequencing of the entire coding region of gene (s)
Referral categories Prenatal Diagnosis
Laboratory Oxford RGC
Calendar Days 3
NHS Price £1150
Price Validated 07/06/2016 18:48
EQA Schemes
  • No EQA scheme available
Note Includes MCC
Notes

Laboratory details

The Oxford Genetics Laboratories
Oxford University Hospitals NHS Trust

  • Website: Laboratory

Accreditations

Accreditation Number Status
UKAS: ISO15189 8694 Active

Addresses

The Oxford Genetics Laboratories General Correspondence

The Oxford Medical Genetics Laboratories
Churchill Hospital
Oxford
OX3 7LJ
United Kingdom

Contacts
Title Email Telephone Fax
Molecular Genetics oxford.dnalab@nhs.net 01865 226001 01865 226006
Cytogenetics cytogenetics@orh.nhs.uk 01865 226001 01865 226006

Core Cytogenetic Service Information

Show alternative names & symbols

Disorders Symbol MIM Links
  • Bernard-Soulier Syndrome
    • Bleeding Disorder, Platelet-Type, 1
    • Glycoprotein Ib, Platelet, Deficiency Of
    • Platelet Glycoprotein Ib Deficiency
    • Von Willebrand Factor Receptor Deficiency
  • BSS
    • BDPLT1
  • 231200
  • Genetic Test Registry
  • Epstein Syndrome
    • Macrothrombocytopenia, Nephritis, And Deafness
  • EPSTNS
    • 0
  • 153650
  • Genetic Test Registry
  • Fechtner Syndrome
    • Alport Syndrome With Macrothrombocytopenia
    • Macrothrombocytopenia, Nephritis, Deafness, And Leukocyte Inclusions
  • FTNS
    • APSM
  • 153640
  • Genetic Test Registry
  • Glanzmann Thrombasthenia
    • Bleeding Disorder, Platelet-Type, 2
    • Glycoprotein Complex IIb-IIIa, Deficiency Of
    • GP IIb-IIIa Complex, Deficiency Of
    • Platelet Fibrinogen Receptor, Deficiency Of
    • Platelet Glycoprotein IIb-IIIa Deficiency
    • Thrombasthenia Of Glanzmann And Naegeli
  • GT
    • BDPLT2
  • 273800
  • Genetic Test Registry
  • May-Hegglin Anomaly
    • Bleeding Disorder, Platelet-Type, 6
    • Dohle Leukocyte Inclusions With Giant Platelets
    • Macrothrombocytopenia With Leukocyte Inclusions
  • MHA
    • BDPLT6
  • 155100
  • Genetic Test Registry
  • Pseudo-Von Willebrand Disease
    • Bleeding Disorder, Platelet-Type, 3
    • Von Willebrand Disease, Platelet-Type
  • VWDP
    • BDPLT3
  • 177820
  • Genetic Test Registry
  • Sebastian Syndrome
    • Macrothrombocytopenia With Dispersed Leukocytic Inclusions
    • Sebastian Platelet Syndrome
  • SBS
    • 0
  • 605249
  • Genetic Test Registry
Genes Symbol MIM HGNC Links
  • glycoprotein Ib platelet, alpha subunit
    • glycoprotein Ib (platelet), alpha polypeptide
  • GP1BA
    • GP1B
  • 606672
  • 4439
  • glycoprotein Ib platelet, beta subunit
    • glycoprotein Ib (platelet), beta polypeptide
  • GP1BB
    • CD42c
  • 138720
  • 4440
  • glycoprotein IX platelet
    • glycoprotein IX (platelet)
  • GP9
    • CD42a
    • GPIX
  • 173515
  • 4444
  • integrin subunit alpha 2b
    • integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
    • integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B
  • ITGA2B
    • CD41
    • CD41B
    • GP2B
    • PPP1R93
  • 607759
  • 6138
  • integrin subunit beta 3
    • integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
  • ITGB3
    • GP3A
  • 173470
  • 6156
  • myosin heavy chain 9
    • myosin, heavy chain 9, non-muscle
    • myosin, heavy polypeptide 9, non-muscle
  • MYH9
    • DFNA17
  • 160775
  • 7579

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