Thrombotic Disorders 3 Gene Panel: Postnatal Diagnosis Routine by Testing for known mutations in family members at Cambridge RGC in 20 days

Test Thrombotic Disorders 3 Gene Panel
Service level Testing for known mutations in family members
Referral categories Postnatal Diagnosis Routine
Laboratory Cambridge RGC
Calendar Days 20
NHS Price £145
Price Validated 25/11/2016 14:21
EQA Schemes
  • Accredited Generic Technical Scheme
Notes

Laboratory details

East Anglian Medical Genetics Service
Cambridge University Hospitals NHS

Accreditations

Accreditation Number Status
CPA 1275 Active

Addresses

East Anglian Medical Genetics Service General Correspondence

East Anglian Medical Genetics Service
Genetics Laboratories Box 143
Level 6, Addenbrooke's Treatment Centre
Cambridge University Hospitals
Hills Road Cambridge
CB2 0QQ
United Kingdom

Contacts
Title Email Telephone Fax
Genetics Laboratory 01223 348866 01223 348870
Stephen Abbs Director of Genetics Laboratory 01223 348866
Ingrid Simonic Deputy Director of the Genetics Laboratories (Head of Cytogenetics) 01223 348713

Core Cytogenetic Service Information

Show alternative names & symbols

Disorders Symbol MIM Links
  • Antithrombin III Deficiency
    • Thrombophilia Due To Antithrombin III Deficiency
  • AT3D
    • THPH7
  • Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
    • PROC Deficiency, Autosomal Recessive
    • Protein C Deficiency, Autosomal Recessive
  • THPH4
    • 0
  • Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
  • THPH6
    • 0
Genes Symbol MIM HGNC Links
  • protein C, inactivator of coagulation factors Va and VIIIa
    • protein C
    • protein C (inactivator of coagulation factors Va and VIIIa)
  • PROC
  • protein S
    • protein S (alpha)
  • PROS1
    • PROS
  • serpin family C, member 1
    • antithrombin (aa 375-432)
    • antithrombin III
    • coding sequence signal peptide antithrombin part 1
    • serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1
    • serpin peptidase inhibitor, clade C (antithrombin), member 1
    • signal peptide antithrombin part 1
  • SERPINC1
    • AT3
    • ATIII
    • MGC22579
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