GNE gene related symptoms and diseases
All the information presented here about the GNE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GNE gene
Symptoms // Phenotype | % Cases |
---|---|
Rimmed vacuoles | Common - Between 50% and 80% cases |
Muscle weakness | Common - Between 50% and 80% cases |
Myopathy | Common - Between 50% and 80% cases |
Elevated serum creatine phosphokinase | Common - Between 50% and 80% cases |
EMG: myopathic abnormalities | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with GNE gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Seizures
- Scapular winging
- Lower limb amyotrophy
- Absent Achilles reflex
- Shoulder girdle muscle weakness
- Mildly elevated creatine phosphokinase
- Increased variability in muscle fiber diameter
- Steppage gait
And 87 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GNE gene
Here you will find a list of rare diseases related to the GNE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SIALURIA
Alternate names
SIALURIA Is also known as sialuria, french type
Description
Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.
Most common symptoms of SIALURIA
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Hypertelorism
More info about SIALURIA
GNE MYOPATHY
Alternate names
GNE MYOPATHY Is also known as nonaka myopathy, ibm2, distal myopathy, nonaka type, hibm2, dmrv, distal myopathy with rimmed vacuoles, hereditary inclusion body myopathy type 2, quadriceps-sparing myopathy, inclusion body myopathy type 2
Description
GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.
Most common symptoms of GNE MYOPATHY
- Muscle weakness
- Skeletal muscle atrophy
- Cardiomyopathy
- Myopathy
- Elevated serum creatine phosphokinase
More info about GNE MYOPATHY
NONAKA MYOPATHY; NM
Alternate names
NONAKA MYOPATHY; NM Is also known as myopathy, distal, with or without rimmed vacuoles, gne myopathy, inclusion body myopathy 2, autosomal recessive, formerly, ibm2, formerly, hibm, nonaka distal myopathy, inclusion body myopathy, quadriceps-sparing, qsm, inclusion body myopathy, hereditary, autosom
Most common symptoms of NONAKA MYOPATHY; NM
- Ataxia
- Muscle weakness
- Gait disturbance
- Myopathy
- Elevated serum creatine phosphokinase
More info about NONAKA MYOPATHY; NM
SOURCES: OMIM
Search interest in GNE
Potential gene panels for GNE gene
MitoMet®Plus aCGH Analysis Panel

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
Congenital Disorders of Glycosylation Panel Panel

By Baylor Miraca Genetics Laboratories Congenital Disorders of Glycosylation Panel that also includes the following genes: SLC35A1 ALG9 ALG1 ATP6V0A2 COG7 COG8 ALG12 SLC35C1 ALG3 ALG6
More info about this panel
GeneAware Complete Panel Version 2 (Female) Panel

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
GeneAware Complete Panel Version 2 (Male) Panel

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
Distal Myopathy Advanced Sequencing Evaluation Panel

By Athena Diagnostics Inc Distal Myopathy Advanced Sequencing Evaluation that also includes the following genes: TIA1 MYOT TTN VCP CAV3 LDB3 KLHL9 GNE CRYAB ANO5
More info about this panel
Lysosomal Storage Disease Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1
More info about this panel
Neuromuscular Disorders Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel
Comprehensive Neuromuscular Panel Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel
Congenital Disorders of Glycosylation Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Disorders of Glycosylation that also includes the following genes: SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12
More info about this panel
Limb-Girdle Muscular Dystrophy Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Limb-Girdle Muscular Dystrophy that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3
More info about this panel
Neuromuscular Disorders Sequencing Panel Panel

By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panel
Inclusion body myopathy 2 Panel

By Human Genetics University Hospital Bern
This panel specifically test the GNE gene.
More info about this panel
GNE (M712T) Mutation Analysis Panel

By GeneDx
This panel specifically test the GNE gene.
More info about this panel
GNE. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GNE gene.
More info about this panel
Nonaka Myopathy (sequence analysis of GNE gene) Panel

By CGC Genetics
This panel specifically test the GNE gene.
More info about this panel
Inclusion body myopathy 2 Panel

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the GNE gene.
More info about this panel
Nonaka myopathy Panel

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the GNE gene.
More info about this panel
Sialuria Panel

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the GNE gene.
More info about this panel
Distal Hereditary Myopathy Sequencing Panel Panel

By PreventionGenetics PreventionGenetics Distal Hereditary Myopathy Sequencing Panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 KLHL9
More info about this panel
Sialuria via the GNE Gene, Exon 5 Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the GNE gene.
More info about this panel
GNE Myopathy via GNE Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the GNE gene.
More info about this panel
Comprehensive Neuromuscular Sequencing Panel Panel

By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4
More info about this panel
Distal Myopathy NGS panel Panel

By Connective Tissue Gene Tests Distal Myopathy NGS panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE
More info about this panel
Distal Myopathy Comprehensive panel Panel

By Connective Tissue Gene Tests Distal Myopathy Comprehensive panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE
More info about this panel
Distal Myopathy Deletion / Duplication panel Panel

By Connective Tissue Gene Tests Distal Myopathy Deletion / Duplication panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE
More info about this panel
Histological Myofibrillar Myopathy Panel

By MGZ Medical Genetics Center Histological Myofibrillar Myopathy that also includes the following genes: MYOT TTN VCP LDB3 GNE CRYAB DES FHL1 FLNC LMNA
More info about this panel
Heart Diseases - panels Panel

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
More info about this panel
Muscle Disease with Distal Myopathy Panel

By MGZ Medical Genetics Center Muscle Disease with Distal Myopathy that also includes the following genes: TCAP TIA1 MYOT TTN VCP CCDC78 CAPN3 CAV3 LDB3 BICD2
More info about this panel
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panel
GNE Panel

By MGZ Medical Genetics Center
This panel specifically test the GNE gene.
More info about this panel
GNE- Related Myopathy Panel

By FirmaLab
This panel specifically test the GNE gene.
More info about this panel
Sialuria Panel

By FirmaLab
This panel specifically test the GNE gene.
More info about this panel
GNE p.M712T Panel

By FirmaLab
This panel specifically test the GNE gene.
More info about this panel
Distal Myopathy Panel Panel

By FirmaLab Distal Myopathy Panel that also includes the following genes: MYOT TTN CAV3 LDB3 GNE ANO5 DNM2 DYSF MATR3 MYH7
More info about this panel
Nonaka myopathy Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the GNE gene.
More info about this panel
Inclusion body myopathy Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the GNE gene.
More info about this panel
AllNeuro panel Panel

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
CentoICU platinum plus Panel

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
New Born testing (CentoICU) Panel

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
Selected Genetic Syndromes with Seizures Panel Panel

By CeGaT GmbH Selected Genetic Syndromes with Seizures Panel that also includes the following genes: SMARCA2 MED12 TSC1 TSC2 KDM6A NSD1 ZEB2 VPS13A PIGO GNE
More info about this panel
Metabolic Epilepsy Panel Panel

By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO
More info about this panel
Congenital and Distal Myopathies Panel Panel

By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panel
Limb-Girdle Muscular Dystrophies Panel Panel

By CeGaT GmbH Limb-Girdle Muscular Dystrophies Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel
Congenital Myopathy and Distal Myopathy NGS panel Panel

By Asper Biogene Asper Biogene LLC Congenital Myopathy and Distal Myopathy NGS panel that also includes the following genes: RYR1 SQSTM1 TIA1 TNNT1 TPM2 TPM3 MYOT TTN VCP ACTA1
More info about this panel
GNE-Related Myopathy, GNE sequencing Panel

By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the GNE gene.
More info about this panel
Family Prep Screen Panel

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
Invitae Comprehensive Neuromuscular Disorders Panel Panel

By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel
Invitae Inclusion Body Myopathy Panel Panel

By Invitae Invitae Inclusion Body Myopathy Panel that also includes the following genes: TTN VCP GNE MYH2
More info about this panel
Invitae Distal Myopathy Panel Panel

By Invitae Invitae Distal Myopathy Panel that also includes the following genes: SQSTM1 TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE CRYAB
More info about this panel
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel

By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1
More info about this panel
Invitae Comprehensive Myopathy Panel Panel

By Invitae Invitae Comprehensive Myopathy Panel that also includes the following genes: RYR1 BIN1 SCN4A SQSTM1 STIM1 TIA1 TNNT1 TPM2 TPM3 MYOT
More info about this panel
Inclusion body myopathy 2: GNE gene sequence analysis Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GNE gene.
More info about this panel
Congenital disorder of multiple glycosylation (CDG) Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of multiple glycosylation (CDG) that also includes the following genes: SEC23B SLC35A1 COG5 ALG9 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12
More info about this panel
Congenital Disorder of Glycosylation, GNE-Related: GNE Gene Sequencing Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the GNE gene.
More info about this panel
Congenital Disorder of Glycosylation, GNE-Related: GNE Gene Deletion/Duplication Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the GNE gene.
More info about this panel
Lysosomal Storage Disorders: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3
More info about this panel
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panel
Congenital Disorders of Glycosylation: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel
Expanded Neuromuscular Disorders: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3
More info about this panel
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

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
Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel
Congenital Disorders of Glycosylation NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Congenital Disorders of Glycosylation NGS Panel that also includes the following genes: RPN2 SEC23B SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7
More info about this panel
Epilepsy NGS Panel Panel

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
Lysosomal Disorders NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panel
Distal Hereditary Myopathy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Distal Hereditary Myopathy NGS Panel that also includes the following genes: TCAP TTN VCP CAV3 LDB3 GNE CRYAB ANO5 DES DYSF
More info about this panel
GNE Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the GNE gene.
More info about this panel
Comprehensive Epilepsy NGS Panel Panel

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
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
More info about this panel
Charcot-Marie-Tooth Neuropathy Panel Panel

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
More info about this panel
Congenital Disorders of Glycosylation Panel Panel

By Blueprint Genetics Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 ATP6V0A2 COG4
More info about this panel
Comprehensive Metabolism Panel Panel

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
Metabolic Epilepsy Panel Panel

By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT
More info about this panel
Comprehensive Epilepsy Panel Panel

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel
DISTAL MYOPATHY, TYPE NONAKA Panel

By Laboratorio de Genetica Clinica SL
This panel specifically test the GNE gene.
More info about this panel
Inclusion Body Myopathy Type 2 , Sequencing GNE Gene Panel

By Reference Laboratory Genetics
This panel specifically test the GNE gene.
More info about this panel
Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes Panel

By Reference Laboratory Genetics Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SEC23B COG5 ALG9 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12 SLC35C1
More info about this panel
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel

By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel

By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
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Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

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
Sialuria: gene sequencing Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GNE gene.
More info about this panel
GNE-Related Myopathy: gene sequencing Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GNE gene.
More info about this panel
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