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 18:50
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
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

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

Laboratory details

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

Accreditations

Addresses

London Institute of Neurology Neurogenetics Unit General Correspondence

Contacts

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