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Porphyria Variegata: Postnatal Diagnosis Urgent by Testing for known mutations in family members at Cardiff RGC in 5 days

Test Porphyria Variegata
Service level Testing for known mutations in family members
Referral categories Postnatal Diagnosis Urgent
Laboratory Cardiff RGC
Calendar Days 5
NHS Price £160
Price Validated 20/10/2017 13:47
EQA Schemes
  • EMQN (Disorder Specific)
Notes

Laboratory details

AWMGS (All Wales Medical Genetics Service)
NHS Wales

  • Website: All Wales Genetics Laboratory
  • Website: All Wales Medical Genetics Service

Accreditations

Accreditation Number Status
CPA 2381 (Molecular) Active
CPA 1545 (Cytogenetics) Active

Addresses

AWMGS (All Wales Medical Genetics Service) General Correspondence

All Wales Medical Genetics Laboratory
Institute of Medical Genetics
University Hospital of Wales
Heath Park
Cardiff
CF14 4XW
United Kingdom

Contacts
Title Email Telephone Fax
Business Manager michaela.john@wales.nhs.uk 029 2074 2641 029 2074 4043
Duty Scientist lab.genetics@wales.nhs.uk 029 2074 2641 029 2074 4043

Core Cytogenetic Service Information

Show alternative names & symbols

Disorders Symbol MIM Links
  • Porphyria Variegata
    • Porphyria, South African Type
    • Ppox Deficiency
    • Protoporphyrinogen Oxidase Deficiency
    • Variegate Porphyria
    • VP
  • 176200
  • Genetic Test Registry
Genes Symbol MIM HGNC Links
  • protoporphyrinogen oxidase
  • PPOX
    • PPO
  • 600923
  • 9280

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