Leber Optic Atrophy: Postnatal Diagnosis Routine by Targeted mutation analysis at Birmingham IMD in 28 days

Test Leber Optic Atrophy
Service level Targeted mutation analysis
Referral categories Postnatal Diagnosis Routine
Laboratory Birmingham IMD
Calendar Days 28
NHS Price £221.49
Price Validated 28/09/2017 12:30
EQA Schemes
  • UKNEQAS (Disorder Specific)
Note MT-ND1
Notes

Laboratory details

West Midlands Inherited Metabolic Disorders
Birmingham Women’s and Children’s NHS Foundation Trust

Accreditations

Accreditation Number Status
CPA 4023 Active

Addresses

West Midlands Inherited Metabolic Disorders General Correspondence

West Midlands Inherited Metabolic Disorders
Dept of Clinical Chemistry
Birmingham Children's Hospital
Steelhouse Lane Birmingham
B4 6NH
United Kingdom

Contacts
Title Email Telephone Fax
Duty Molecular Biologist 0121 333 9877 0121 333 9911

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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