Leigh Syndrome, French Canadian Type; Lsfc

Description

The French Canadian type of Leigh syndrome is an autosomal recessive severe neurologic disorder with onset in infancy. Features include delayed psychomotor development, mental retardation, mild dysmorphic facial features, hypotonia, ataxia, and the development of lesions in the brainstem and basal ganglia. Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by Debray et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Leigh syndrome, see {256000}.

Clinical Features

Top most frequent phenotypes and symptoms related to Leigh Syndrome, French Canadian Type; Lsfc

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Ataxia
  • Strabismus
  • Failure to thrive
  • Motor delay
  • Muscular hypotonia
  • Abnormal facial shape
And another 48 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Leigh Syndrome, French Canadian Type; Lsfc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
LRPPRC Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

LRPPRC
Specificity
100 %
Genes
50 %
LRPPRC Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LRPPRC
Specificity
100 %
Genes
50 %
LRPPRC Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

LRPPRC
Specificity
100 %
Genes
50 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
50 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
50 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
2 %
Genes
100 %
Respiratory Chain Deficiency.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, SDHAF2, NDUFS4, FOXRED1, NDUFAF2, SDHC, PDHB, TMEM70, NDUFAF1, TTC19, NDUFA10, NUBPL, COX4I2, SDHB, PDP1, NDUFA13 , (...)

View the complete list with 35 more genes
Specificity
4 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
2 %
Genes
100 %
Leigh syndrome, French-Canadian type (sequence analysis of LRPPRC gene).

By CGC Genetics in Portugal.

LRPPRC
Specificity
100 %
Genes
50 %
LRPPRC Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

LRPPRC
Specificity
100 %
Genes
50 %
French-Canadian type of Leigh syndrome via LRPPRC Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LRPPRC
Specificity
100 %
Genes
50 %
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes).

By PreventionGenetics PreventionGenetics in United States.

COX14, SCO2, COX15, SURF1, LRPPRC, FASTKD2, COX6B1, TACO1, SCO1, COX20, COA5, PET100, APOPT1, COA6, COA3
Specificity
14 %
Genes
100 %
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UQCRQ, BCS1L, C12orf65, DLD, POLG, NDUFS4, FOXRED1, NDUFAF2, COQ9, PDSS2, NDUFA12, LIAS, NDUFA9, PDHB, TTC19, NDUFA10, NUBPL, SUCLA2, TSFM, GFM1 , (...)

View the complete list with 43 more genes
Specificity
4 %
Genes
100 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AARS2, ACAD9, YARS2, UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, TWNK, C12orf65, ELAC2, OPA1, TRMU, DLD, POLG, NDUFS4, SLC25A4, GARS, AFG3L2, FOXRED1 , (...)

View the complete list with 154 more genes
Specificity
2 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Complex IV Defect.

By MGZ Medical Genetics Center in Germany.

C12orf65, COX14, COX4I2, ETHE1, SURF1, LRPPRC, FASTKD2, COX6B1, TACO1, COX10
Specificity
20 %
Genes
100 %
Leigh Syndrome.

By MGZ Medical Genetics Center in Germany.

ACAD9, ATP5F1E, ATPAF2, BCS1L, C12orf65, SDHAF2, SDHC, COX14, TTC19, SDHB, SCO2, PDHA1, COX15, SURF1, SDHAF1, LRPPRC, TACO1, MTFMT, SDHA, SDHD , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
100 %
Combined Respiratory Chain Defects.

By MGZ Medical Genetics Center in Germany.

AARS2, YARS2, C12orf65, TRMU, POLG, RRM2B, MTO1, DGUOK, SARS2, MTPAP, GFER, SUCLA2, MRPS22, RARS2, DARS2, TUFM, TSFM, MRPS16, TK2, GFM1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)

View the complete list with 166 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

View the complete list with 148 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, SDHAF2, OPA1, TRMU, WFS1, DLD, POLG, NDUFS4, SLC25A19, SLC25A4 , (...)

View the complete list with 111 more genes
Specificity
2 %
Genes
100 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
100 %
Leigh Syndrome, French-Canadian Type.

By PROCREA Genetic Laboratory PROCREA/Opmedic Group Inc. in Canada.

LRPPRC
Specificity
100 %
Genes
50 %
Leigh syndrome, French-Canadian type.

By Centogene AG - the Rare Disease Company in Germany.

LRPPRC
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
2 %
Genes
100 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)

View the complete list with 112 more genes
Specificity
2 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UQCRQ, UQCRB, ATPAF2, BCS1L, SDHAF2, NDUFS4, FOXRED1, SDHC, TMEM70, NDUFAF1, TTC19, NDUFA10, NUBPL, COX4I2, SDHB, SCO2, NDUFA2, COX15, SURF1, NDUFS8 , (...)

View the complete list with 23 more genes
Specificity
5 %
Genes
100 %
Leigh Syndrome, French-Canadian Type (LRPPRC).

By Integrated Genetics Westborough Integrated Genetics in United States.

LRPPRC
Specificity
100 %
Genes
50 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
2 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Lactic Acidosis-Pyruvate NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACAD9, YARS2, FBP1, PC, GYS2, UQCRB, ATP5F1E, ATPAF2, BCS1L, TRMU, DLD, POLG, NDUFS4, SLC25A4, FOXRED1, RRM2B, FH, COQ9, PDSS2, PDSS1 , (...)

View the complete list with 49 more genes
Specificity
3 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
LRPPRC.

By Fulgent Genetics Fulgent Genetics in United States.

LRPPRC
Specificity
100 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
50 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6 , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
50 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
LEIGH SYNDROME: NGS PANEL-2.

By Laboratorio de Genetica Clinica SL in Spain.

ACAD9, BCS1L, DLD, NDUFS4, FOXRED1, NDUFAF2, PDSS2, NDUFA12, NDUFA9, PDHB, NDUFAF1, TTC19, NDUFA10, SUCLA2, TUFM, COQ2, SCO2, PDHA1, NDUFA2, COX15 , (...)

View the complete list with 23 more genes
Specificity
5 %
Genes
100 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
50 %
SURF1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SURF1
Specificity
100 %
Genes
50 %
SURF1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SURF1
Specificity
100 %
Genes
50 %
SURF1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SURF1
Specificity
100 %
Genes
50 %
SURF1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

SURF1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GARS, KIF1B, MFN2, VCP, HARS, KARS, AIFM1, SURF1, NEFH, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TTR, GAA, COL3A1, EYA4, DSP, CRYAB, RAF1, FBN1, SCO2, TAZ, COX15, SURF1, CBS, FXN, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
50 %
Hypertrophic Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TTR, GAA, RAF1, SCO2, COX15, SURF1, FXN, GLA, PTPN11, CAV3, TTN, MYH7, LDB3, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, ANKRD1, TNNC1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Hypertrophic Cardiomyopathy Panel (23 genes).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TTR, SCO2, SURF1, CAV3, LDB3, MYBPC3, LAMP2, ACTC1, ANKRD1, TNNC1, TNNI3, PRKAG2, PLN, NEXN, TPM1, TNNT2, ACTN2, CSRP3, MYL2, MYL3 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Comprehensive Cardiomyopathy Panel (37 genes).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TTR, CRYAB, SCO2, TAZ, SURF1, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, NEBL , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
SURF Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SURF1
Specificity
100 %
Genes
50 %
SURF1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SURF1
Specificity
100 %
Genes
50 %
Leigh syndrome due to COX deficiency (sequence analysis of SURF1 gene).

By CGC Genetics in Portugal.

SURF1
Specificity
100 %
Genes
50 %
SURF1 Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

SURF1
Specificity
100 %
Genes
50 %
Leigh Syndrome (nuclear DNA mutation).

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

SCO2, SURF1
Specificity
50 %
Genes
50 %
Leigh syndrome with COX deficiency.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

SURF1
Specificity
100 %
Genes
50 %
SURF1-Related Leigh Syndrome (LS) via SURF1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SURF1
Specificity
100 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
50 %
Hypertrophic cardiomyopathy - different panels.

By Institute of Human Genetics Cologne University in Germany.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
Mitochondrial Respiratory Chain Complex IV Deficiency (Nuclear Genes).

By MGZ Medical Genetics Center in Germany.

SCO2, COX15, SURF1, FASTKD2, COX6B1, TACO1, COX10, SCO1
Specificity
13 %
Genes
50 %
Leigh Syndrome (nuclear DNA mutation).

By MGZ Medical Genetics Center in Germany.

BCS1L, NDUFS4, NDUFAF2, NDUFA10, SCO2, PDHA1, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFS1, NDUFV1, FASTKD2, COX6B1, TACO1, MTFMT, SDHA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, TWNK, TRMU, POLG, NDUFS4, RRM2B, MTO1, COQ9, PDSS2, PDSS1, COQ6, DGUOK, TMEM70, SUCLA2, COQ8A, TK2, COQ2, SCO2, ETHE1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
50 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
50 %
Leigh syndrome, due to COX deficiency.

By Centogene AG - the Rare Disease Company in Germany.

SURF1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
50 %
SURF1 - Leigh Syndrome.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital in Sweden.

SURF1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

C12orf65, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, TYMP, AIFM1, SURF1, NAGLU, HK1, ARSA, NDRG1, SBF2, PRX, FIG4 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
50 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
50 %
Skeletal Myopathy Panel.

By Health in Code in Spain.

AGL, GAA, DLD, SLC25A4, CRYAB, AGK, COQ2, TAZ, PHKA1, SURF1, SLC22A5, PMM2, DOLK, DMD, HRAS, FKTN, SGCA, SGCB, CAPN3, LMNA , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
50 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
50 %
Hypertrophic Cardiomyopathy Extended Panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
50 %
Skeletal myopathy Panel.

By Health in Code in Spain.

AGL, GAA, DLD, SLC25A4, CRYAB, AGK, CAVIN1, SLC25A3, COQ2, SCO2, TAZ, PHKA1, SURF1, FXN, SLC22A5, PMM2, SDHA, DOLK, DMD, HRAS , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
50 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
50 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
Leigh Syndrome (nuclear DNA mutation).

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

SURF1
Specificity
100 %
Genes
50 %
Leigh syndrome.

By Praxis fuer Humangenetik Wien in Austria.

SURF1
Specificity
100 %
Genes
50 %
Leigh syndrome.

By MedGene in Slovakia.

SURF1
Specificity
100 %
Genes
50 %
LEIGH SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

BCS1L, DLD, COQ2, SCO2, PDHA1, COX15, SURF1, TACO1, SLC19A3, COX10
Specificity
10 %
Genes
50 %
Mitochondrial respiratory chain complex II, III, and IV deficiency.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

UQCRQ, UQCRB, BCS1L, SDHAF2, SDHC, TTC19, COX4I2, SDHB, CYCS, SCO2, COX15, SURF1, SDHAF1, FASTKD2, COX6B1, TACO1, SDHA, SDHD, COX4I1, COX10 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Mitochondrial complex IV deficiency.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COX14, SCO2, COX15, SURF1, FASTKD2, COX6B1, TACO1, MT-TS1, MT-CO2, MT-CO1, MT-CO3, COX10, SCO1, MT-TN
Specificity
8 %
Genes
50 %
Leigh syndrome, SURF1-related.

By Integrated Genetics Westborough Integrated Genetics in United States.

SURF1
Specificity
100 %
Genes
50 %
SURF1.

By Fulgent Genetics Fulgent Genetics in United States.

SURF1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
50 %
CYTOCHROME C OXIDASE DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

COX14, SCO2, COX15, SURF1, FASTKD2, COX10, SCO1
Specificity
15 %
Genes
50 %
LEIGH'S SYNDROME (CYTOCHROME C OXIDASE DEFICIENCY).

By Laboratorio de Genetica Clinica SL in Spain.

BCS1L, DLD, NDUFS4, SCO2, PDHA1, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFS1, NDUFV1, SDHA, COX10
Specificity
8 %
Genes
50 %
LEIGH SYNDROME: NGS PANEL-1.

By Laboratorio de Genetica Clinica SL in Spain.

BCS1L, DLD, NDUFS4, PDHB, COQ2, SCO2, PDHA1, COX15, SURF1, NDUFS8, NDUFS7, TACO1, SDHA, SLC19A3, COX10
Specificity
7 %
Genes
50 %
Leigh Syndrome, Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

BCS1L, DLD, COQ2, SCO2, PDHA1, COX15, SURF1, TACO1, SLC19A3, COX10
Specificity
10 %
Genes
50 %
Charcot-Marie-Tooth Disease Type 4 , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

SURF1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, EGR2
Specificity
10 %
Genes
50 %
Leigh syndrome: SURF1 gene sequencing.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

SURF1
Specificity
100 %
Genes
50 %

Alternate names

Leigh Syndrome, French Canadian Type; Lsfc Is also known as cytochrome c oxidase deficiency, french canadian type, cox deficiency, french canadian type, cox deficiency, saguenay-lac-saint-jean type, leigh syndrome, saguenay-lac-saint-jean type;cox deficiency, french-canadian type; cytochrome c oxidase deficiency, french-canadian type; cytochrome oxidase deficiency, saguenay-lac-saint-jean type; leigh syndrome, french-canadian type; leigh syndrome, saguenay-lac-saint-jean type; slsj-cox deficiency.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPHEROCYTOSIS, TYPE 1; SPH1 MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8 MONOSOMY 5P CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE