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Mitochondrial Genome Disorders 37 Gene Panel: Prenatal Diagnosis by Sequencing of selected exons at London Institute of Neurology in 3 days

Test Mitochondrial Genome Disorders 37 Gene Panel
Service level Sequencing of selected exons
Referral categories Prenatal Diagnosis
Laboratory London Institute of Neurology
Calendar Days 3
NHS Price £400 (HSS)
Price Validated 11/08/2017 17:50
EQA Schemes
  • UKNEQAS (Disorder Specific)
Note per amplimer
Notes

Laboratory details

London Institute of Neurology Neurogenetics Unit
University College London Hospitals NHS Foundation Trust

  • Website: Laboratory
  • Website: Clinical Service

Accreditations

Accreditation Number Status
CPA 1670 Active

Addresses

London Institute of Neurology Neurogenetics Unit General Correspondence

Neurogenetics Unit
Institute of Neurology/National Hospital for Neurology and Neurosurgery
Queen Square
London
WC1N 3BG
United Kingdom

Contacts
Title Email Telephone Fax
General Enquiries ucl-tr.NHNNgenetics@nhs.net 0203 448 4250 0207 419 0948

Show alternative names & symbols

Disorders Symbol MIM Links
  • Deafness, Nonsyndromic Sensorineural, Mitochondrial
  • 500008
  • Genetic Test Registry
  • Diabetes-Deafness Syndrome, Maternally Transmitted
    • Ballinger-Wallace Syndrome
    • Diabetes And Deafness, Maternally Inherited
    • Diabetes Mellitus, Type II, With Deafness
    • Niddm With Deafness
    • Noninsulin-Dependent Diabetes Mellitus With Deafness
  • MIDD
    • MIDD
  • 520000
  • Genetic Test Registry
  • Kearns-Sayre Syndrome
    • Chronic Progressive External Ophthalmoplegia With Myopathy
    • Cpeo With Myopathy
    • Cpeo With Ragged-Red Fibers
    • Mitochondrial Cytopathy
    • Oculocraniosomatic Syndrome
    • Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
    • Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
    • Ophthalmoplegia-Plus Syndrome
  • KSS
  • 530000
  • Genetic Test Registry
  • Leber Optic Atrophy
    • Leber Hereditary Optic Neuropathy
    • LHON
  • 535000
  • Genetic Test Registry
  • Mitochondrial Myopathy
    • Including Melas, Merrf, Narp, Pearson's Syndrome, Leigh's Syndrome, Midd, Cpeo, Kearn-Sayre Syndrome
  • 251900
  • Genetic Test Registry
  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
    • Melas Syndrome
  • MELAS
  • 540000
  • Genetic Test Registry
  • Mitochondrial Myopathy, Infantile, Transient
    • Cox Deficiency Myopathy, Infantile, Transient
    • Mitochondrial Myopathy, Infantile, Transient, Due To Respiratory Chain Deficiency
    • Respiratory Chain Deficiency, Infantile, Transient
  • MMIT
  • 500009
  • Genetic Test Registry
  • Myoclonic Epilepsy Associated With Ragged-Red Fibers
    • MERRF Syndrome
  • MERRF
  • 545000
  • Genetic Test Registry
  • Neuropathy, Ataxia, And Retinitis Pigmentosa
    • Narp Syndrome
  • NARP
  • 551500
  • Genetic Test Registry
  • Wolfram Syndrome, Mitochondrial Form
    • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness, Mitochondrial Form
    • Didmoad Syndrome, Mitochondrial Form
  • 598500
  • Genetic Test Registry
Genes Symbol MIM HGNC Links
  • mitochondrial genome
    • mitochondrial DNA
    • mitochondrial DNA depletion
    • mitochondrial DNA rearrangements
    • mt DNA
  • 0
  • 0
  • mitochondrially encoded 12S RNA
    • rRNA, 12S, mitochondrial
  • MT-RNR1
    • MTRNR1
  • 561000
  • 7470
  • mitochondrially encoded 16S RNA
  • MT-RNR2
    • MTRNR2
  • 561010
  • 7471
  • mitochondrially encoded ATP synthase 6
    • ATP synthase 6 complex v, atp synthase, subunit atpase 6
  • MT-ATP6
    • ATP6
    • MTATP6
  • 516060
  • 7414
  • mitochondrially encoded ATP synthase 8
    • ATP synthase 8
  • MT-ATP8
    • MTATP8
  • 516070
  • 7415
  • mitochondrially encoded cytochrome b
    • cytochrome b
  • MT-CYB
    • MTCYB
  • 516020
  • 7427
  • mitochondrially encoded cytochrome c oxidase I
    • cytochrome c oxidase I
  • MT-CO1
    • MTCO1
  • 516030
  • 7419
  • mitochondrially encoded cytochrome c oxidase II
    • cytochrome c oxidase II
  • MT-CO2
    • MTCO2
  • 516040
  • 7421
  • mitochondrially encoded cytochrome c oxidase III
    • cytochrome c oxidase III
  • MT-CO3
    • MTCO3
  • 516050
  • 7422
  • 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
  • 516000
  • 7455
  • mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
    • mitochondrially encoded NADH dehydrogenase 2
    • NADH dehydrogenase 2
  • MT-ND2
    • MTND2
  • 516001
  • 7456
  • mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
    • mitochondrially encoded NADH dehydrogenase 3
    • NADH dehydrogenase 3
  • MT-ND3
    • MTND3
  • 516002
  • 7458
  • 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
  • 516003
  • 7459
  • mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
    • mitochondrially encoded NADH dehydrogenase 4L
    • NADH dehydrogenase 4L
  • MT-ND4L
    • MTND4L
  • 516004
  • 7460
  • mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
    • complex i, subunit nd5
    • mitochondrially encoded NADH dehydrogenase 5
    • NADH dehydrogenase, subunit 5
    • NADH-ubiquinone oxidoreductase, subunit nd5
  • MT-ND5
    • MTND5
  • 516005
  • 7461
  • 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
  • 516006
  • 7462
  • mitochondrially encoded tRNA alanine
  • MT-TA
    • MTTA
  • 590000
  • 7475
  • mitochondrially encoded tRNA arginine
  • MT-TR
    • MTTR
  • 590005
  • 7496
  • mitochondrially encoded tRNA asparagine
  • MT-TN
    • MTTN
  • 590010
  • 7493
  • mitochondrially encoded tRNA aspartic acid
  • MT-TD
    • MTTD
  • 590015
  • 7478
  • mitochondrially encoded tRNA cysteine
  • MT-TC
    • MTTC
  • 590020
  • 7477
  • mitochondrially encoded tRNA glutamic acid
    • RNA glutamic acid
    • transfer RNA, mitochondrial, glutamic acid
    • tRNA-glu, mitochondrial
  • MT-TE
    • MTTE
  • 590025
  • 7479
  • mitochondrially encoded tRNA glutamine
  • MT-TQ
    • MTTQ
  • 590030
  • 7495
  • mitochondrially encoded tRNA glycine
  • MT-TG
    • MTTG
  • 590035
  • 7486
  • mitochondrially encoded tRNA histidine
  • MT-TH
    • MTTH
  • 590040
  • 7487
  • mitochondrially encoded tRNA isoleucine
  • MT-TI
    • MTTI
  • 590045
  • 7488
  • mitochondrially encoded tRNA leucine 1 (UUA/G)
    • transfer RNA, mitochondrial, leucine, 1
    • tRNA leucine 1 (UUA/G)
    • trRNA-leu, mitochondrial, 1
  • MT-TL1
    • MTTL1
  • 590050
  • 7490
  • mitochondrially encoded tRNA leucine 2 (CUN)
  • MT-TL2
    • MTTL2
  • 590055
  • 7491
  • mitochondrially encoded tRNA lysine
    • transfer RNA mitochondrial, lysine
    • tRNA lysine
    • tRNA-lys, mitochondrial
  • MT-TK
    • MERRF
    • MTTK
  • 590060
  • 7489
  • mitochondrially encoded tRNA methionine
  • MT-TM
    • MTTM
  • 590065
  • 7492
  • mitochondrially encoded tRNA phenylalanine
  • MT-TF
    • MTTF
  • 590070
  • 7481
  • mitochondrially encoded tRNA proline
  • MT-TP
    • MTTP
  • 590075
  • 7494
  • mitochondrially encoded tRNA serine 1 (UCN)
  • MT-TS1
    • MTTS1
  • 590080
  • 7497
  • mitochondrially encoded tRNA serine 2 (AGU/C)
  • MT-TS2
    • MTTS2
  • 590085
  • 7498
  • mitochondrially encoded tRNA threonine
  • MT-TT
    • LIMM
    • MTTT
  • 590090
  • 7499
  • mitochondrially encoded tRNA tryptophan
  • MT-TW
    • MTTW
  • 590095
  • 7501
  • mitochondrially encoded tRNA tyrosine
  • MT-TY
    • MTTY
  • 590100
  • 7502
  • mitochondrially encoded tRNA valine
  • MT-TV
    • MTTV
  • 590105
  • 7500

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