Leber Optic Atrophy: Postnatal Diagnosis Urgent by Targeted mutation analysis at Sheffield RGC in 14 days

Test Leber Optic Atrophy
Service level Targeted mutation analysis
Referral categories Postnatal Diagnosis Urgent
Laboratory Sheffield RGC
Calendar Days 14
NHS Price £225
Price Validated 27/05/2016 14:44
EQA Schemes
  • UKNEQAS (Disorder Specific)
Note MT-ND1 3460G>A & MT-ND4 m.11778G>A & MT-ND6 m.14484T>C
Notes

Laboratory details

Sheffield Diagnostic Genetics Service (SDGS) Laboratory Genetics
Sheffield Children's NHS Foundation Trust

Accreditations

Accreditation Number Status
CPA 3098 Active

Addresses

Sheffield Diagnostic Genetics Service (SDGS) Laboratory Genetics General Correspondence

Sheffield Diagnostic Genetics Service
Sheffield Children's NHS Foundation Trust
Western Bank Sheffield
S10 2TH
United Kingdom

Contacts
Title Email Telephone Fax
General Enquiries 011427 17014 011427 50629

Core Cytogenetic Service Information

Show alternative names & symbols

Disorders Symbol MIM Links
  • Leber Optic Atrophy
    • Leber Hereditary Optic Neuropathy
    • LHON
Genes Symbol MIM HGNC Links
  • mitochondrially encoded ATP synthase 6
    • ATP synthase 6 complex v, atp synthase, subunit atpase 6
  • MT-ATP6
    • ATP6
    • MTATP6
  • mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
    • mitochondrially encoded NADH dehydrogenase 1
    • NADH dehydrogenase 1
    • NADH dehydrogenase, subunit 1
    • NADH-ubiquinone oxidoreductase, subunit nd1
  • MT-ND1
    • MTND1
  • mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
    • complex I, subunit nd4
    • mitochondrially encoded NADH dehydrogenase 4
    • NADH dehydrogenase 4
    • NADH dehydrogenase, subunit 4
    • NADH-ubiquinone oxidoreductase, subunit nd4
  • MT-ND4
    • MTND4
    • ND4
  • mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
    • complex i, subunit nd6
    • mitochondrially encoded NADH dehydrogenase 6
    • NADH dehydrogenase, subunit 6
    • NADH-ubiquinone oxidoreductase, subunit nd6
    • NADHdehydrogenase 6
  • MT-ND6
    • MTND6
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