BCS1L gene related symptoms and diseases
All the information presented here about the BCS1L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to BCS1L gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Hearing impairment | Common - Between 50% and 80% cases |
| Sensorineural hearing impairment | Common - Between 50% and 80% cases |
| Lactic acidosis | Common - Between 50% and 80% cases |
| Acidosis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with BCS1L gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cardiomyopathy
- Generalized hypotonia
- Ataxia
- Nystagmus
- Failure to thrive
- Muscular hypotonia
- Hyperreflexia
- Skeletal muscle atrophy
And 127 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to BCS1L gene
Here you will find a list of rare diseases related to the BCS1L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BJÖRNSTAD SYNDROME
Alternate names
BJÖRNSTAD SYNDROME Is also known as deafness-pili torti-hypogonadism syndrome, pili torti and nerve deafness, ptd
Description
Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.
Most common symptoms of BJÖRNSTAD SYNDROME
- Intellectual disability
- Short stature
- Hearing impairment
- Sensorineural hearing impairment
- Intellectual disability, severe
More info about BJÖRNSTAD SYNDROME
GRACILE SYNDROME
Alternate names
GRACILE SYNDROME Is also known as growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome, growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome, lactic acidosis, finnish, with hepatic hemosiderosis, fellman syndrome
Description
GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
Most common symptoms of GRACILE SYNDROME
- Hearing impairment
- Growth delay
- Intrauterine growth retardation
- Acidosis
- Neonatal hypotonia
More info about GRACILE SYNDROME
LEIGH SYNDROME; LS
Alternate names
LEIGH SYNDROME; LS Is also known as necrotizing encephalopathy, infantile subacute, of leigh, sne
Description
Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998).Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (OMIM ), complex II deficiency (OMIM ), complex III deficiency (OMIM ), complex IV deficiency (cytochrome c oxidase; {220110}), or complex V deficiency (OMIM ).
Most common symptoms of LEIGH SYNDROME; LS
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
More info about LEIGH SYNDROME; LS
SOURCES: OMIM
ISOLATED COMPLEX III DEFICIENCY
Alternate names
ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency, isolated ubiquinone-cytochrome c reductase deficiency, isolated mitochondrial respiratory chain complex iii deficiency, isolated coenzyme q-cytochrome c reductase deficiency
Description
Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
Most common symptoms of ISOLATED COMPLEX III DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about ISOLATED COMPLEX III DEFICIENCY
RENAL TUBULOPATHY-ENCEPHALOPATHY-LIVER FAILURE SYNDROME
Description
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.
More info about RENAL TUBULOPATHY-ENCEPHALOPATHY-LIVER FAILURE SYNDROME
SOURCES: ORPHANET
Search interest in BCS1L
Potential gene panels for BCS1L gene
BCS1L Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the BCS1L gene.
More info about this panel United States.
BCS1L Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the BCS1L gene.
More info about this panel United States.
BCS1L Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the BCS1L gene.
More info about this panel United States.
BCS1L Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the BCS1L gene.
More info about this panel United States.
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel United States.
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Respiratory Chain Deficiency Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Respiratory Chain Deficiency that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 UQCRB LRPPRC
More info about this panel United States.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
OtoGenome Test for Hearing Loss (110 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panel United States.
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Audiome (hearing loss panel) Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panel United States.
Bjornstad Syndrome (sequence analysis of gene BCS1L) Panel
Portugal.
By CGC Genetics
This panel specifically test the BCS1L gene.
More info about this panel Portugal.
BCS1L Sequence Analysis Panel
Netherlands.
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the BCS1L gene.
More info about this panel Netherlands.
Gracile syndrome Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the BCS1L gene.
More info about this panel Poland.
Bjornstad Syndrome via the BCS1L Gene Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the BCS1L gene.
More info about this panel United States.
Gracile syndrome via the BCS1L Gene Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the BCS1L gene.
More info about this panel United States.
Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel
United States.
By PreventionGenetics PreventionGenetics Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) that also includes the following genes: BCS1L UQCRB UQCRC2 UQCC2 CYC1 TTC19 LYRM7 UQCRQ UQCC3
More info about this panel United States.
Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L SCO2 SUCLA2 SUCLG1 SURF1 TSFM FBXL4 GFM1 GTPBP3 LRPPRC
More info about this panel United States.
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Leigh Syndrome Panel
Germany.
By MGZ Medical Genetics Center Leigh Syndrome that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 LRPPRC SLC19A3
More info about this panel Germany.
Leigh Syndrome (nuclear DNA mutation) Panel
Germany.
By MGZ Medical Genetics Center Leigh Syndrome (nuclear DNA mutation) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SURF1 COX10 COX15 COX6B1 TACO1 NDUFAF2
More info about this panel Germany.
Mitochondrial Respiratory Chain Complex III Deficiency, BCS1L-Related Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the BCS1L gene.
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Mitochondrial Diseases Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panel Germany.
Complex III Defect Panel
Germany.
By MGZ Medical Genetics Center Complex III Defect that also includes the following genes: BCS1L UQCRB UQCRC2 TTC19 UQCRQ
More info about this panel Germany.
Mitochondrial Hepato(encephalo)pathy and Phenocopies Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Hepato(encephalo)pathy and Phenocopies that also includes the following genes: BCS1L SCO1 SUCLG1 TWNK TSFM GFM1 ABHD5 CPT1A TRMU DGUOK
More info about this panel Germany.
Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3
More info about this panel Germany.
Mitochondrial complex III deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the BCS1L gene.
More info about this panel Germany.
Mitochondrial complex III deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the BCS1L gene.
More info about this panel Germany.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
Bjornstad syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the BCS1L gene.
More info about this panel Germany.
GRACILE syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the BCS1L gene.
More info about this panel Germany.
Leigh syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the BCS1L gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
Germany.
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panel Germany.
Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
Estonia.
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panel Estonia.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
LEIGH SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LEIGH SYNDROME that also includes the following genes: BCS1L SCO2 SURF1 SLC19A3 COX10 COX15 TACO1 COQ2 DLD PDHA1
More info about this panel Spain.
Mitochondrial respiratory chain complex II, III, and IV deficiency Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Mitochondrial respiratory chain complex II, III, and IV deficiency that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 UQCRB COX4I2
More info about this panel Spain.
Mitochondrial Diseases: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Mitochondrial Diseases: Sequencing Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SURF1 UQCRB LRPPRC NDUFAF5
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
GRACILE Syndrome (BCS1L) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the BCS1L gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Lactic Acidosis-Pyruvate NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lactic Acidosis-Pyruvate NGS Panel that also includes the following genes: BCS1L SCO2 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1 TAZ TK2 TSFM
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Hearing Loss NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
BCS1L Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BCS1L gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Ectodermal Dysplasia Panel Panel
Finland.
By Blueprint Genetics Ectodermal Dysplasia Panel that also includes the following genes: RMRP BCS1L IFT122 WNT10A EDARADD TP63 MPLKIP CDH3 PORCN EVC2
More info about this panel Finland.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel Finland.
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel
Finland.
By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE
More info about this panel Finland.
Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panel Finland.
3-M Syndrome / Primordial Dwarfism Panel Panel
Finland.
By Blueprint Genetics 3-M Syndrome / Primordial Dwarfism Panel that also includes the following genes: BCS1L XRCC4 PCNT SRCAP ORC6 CENPJ CDC45 CDC6 RTTN CUL7
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel
Taiwan.
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panel Taiwan.
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
United States.
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel United States.
LEIGH'S SYNDROME (CYTOCHROME C OXIDASE DEFICIENCY) Panel
Spain.
By Laboratorio de Genetica Clinica SL LEIGH'S SYNDROME (CYTOCHROME C OXIDASE DEFICIENCY) that also includes the following genes: BCS1L SCO2 SDHA SURF1 COX10 COX15 DLD NDUFS1 NDUFS3 NDUFS4
More info about this panel Spain.
MITOCHONDRIAL COMPLEX 3 DEFICIENCY (UBIQUINONE-CYTOCHROME C OXIDASE) Panel
Spain.
By Laboratorio de Genetica Clinica SL MITOCHONDRIAL COMPLEX 3 DEFICIENCY (UBIQUINONE-CYTOCHROME C OXIDASE) that also includes the following genes: BCS1L UQCRB TTC19 UQCRQ MT-CYB
More info about this panel Spain.
LEIGH SYNDROME: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL LEIGH SYNDROME: NGS PANEL that also includes the following genes: BCS1L SCO2 SDHA SURF1 SLC19A3 COX10 COX15 TACO1 COQ2 DLD
More info about this panel Spain.
Bjornstadt Syndrome , Sequencing BCS1L Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the BCS1L gene.
More info about this panel Spain.
Leigh Syndrome, Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Leigh Syndrome, Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: BCS1L SCO2 SURF1 SLC19A3 COX10 COX15 TACO1 COQ2 DLD PDHA1
More info about this panel Spain.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
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