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
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Congenital Disorders of Glycosylation Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Female) Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Male) Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Distal Myopathy Advanced Sequencing Evaluation Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Lysosomal Storage Disease Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Neuromuscular Disorders Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Comprehensive Neuromuscular Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Congenital Disorders of Glycosylation Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Limb-Girdle Muscular Dystrophy Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Neuromuscular Disorders Sequencing Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Inclusion body myopathy 2 Panel
![](/img/flags/Switzerland.png.pagespeed.ce.J0yNRX_kke.png)
By Human Genetics University Hospital Bern
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/Switzerland.png.pagespeed.ce.J0yNRX_kke.png)
GNE (M712T) Mutation Analysis Panel
![](/img/flags/United-states.png)
By GeneDx
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/United-states.png)
GNE. Complete sequencing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Nonaka Myopathy (sequence analysis of GNE gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Inclusion body myopathy 2 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Nonaka myopathy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Sialuria Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Distal Hereditary Myopathy Sequencing Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Sialuria via the GNE Gene, Exon 5 Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/United-states.png)
GNE Myopathy via GNE Gene Sequencing with CNV Detection Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Neuromuscular Sequencing Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Distal Myopathy NGS panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Distal Myopathy Comprehensive panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Distal Myopathy Deletion / Duplication panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Histological Myofibrillar Myopathy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Heart Diseases - panels Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Muscle Disease with Distal Myopathy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
GNE Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MGZ Medical Genetics Center
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
GNE- Related Myopathy Panel
![](/img/flags/United-states.png)
By FirmaLab
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/United-states.png)
Sialuria Panel
![](/img/flags/United-states.png)
By FirmaLab
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/United-states.png)
GNE p.M712T Panel
![](/img/flags/United-states.png)
By FirmaLab
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/United-states.png)
Distal Myopathy Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Nonaka myopathy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Inclusion body myopathy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
AllNeuro panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
CentoICU platinum plus Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
New Born testing (CentoICU) Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Selected Genetic Syndromes with Seizures Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Metabolic Epilepsy Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital and Distal Myopathies Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Limb-Girdle Muscular Dystrophies Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital Myopathy and Distal Myopathy NGS panel Panel
![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
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![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
GNE-Related Myopathy, GNE sequencing Panel
![](/img/flags/United-states.png)
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/United-states.png)
Family Prep Screen Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Invitae Comprehensive Neuromuscular Disorders Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Invitae Inclusion Body Myopathy Panel Panel
![](/img/flags/United-states.png)
By Invitae Invitae Inclusion Body Myopathy Panel that also includes the following genes: TTN VCP GNE MYH2
More info about this panel![](/img/flags/United-states.png)
Invitae Distal Myopathy Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Invitae Comprehensive Myopathy Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Inclusion body myopathy 2: GNE gene sequence analysis Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital disorder of multiple glycosylation (CDG) Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Disorder of Glycosylation, GNE-Related: GNE Gene Sequencing Panel
![](/img/flags/United-states.png)
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/United-states.png)
Congenital Disorder of Glycosylation, GNE-Related: GNE Gene Deletion/Duplication Panel
![](/img/flags/United-states.png)
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/United-states.png)
Lysosomal Storage Disorders: Sequencing Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Congenital Disorders of Glycosylation: Sequencing Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Expanded Neuromuscular Disorders: Sequencing Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Congenital Disorders of Glycosylation NGS Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Epilepsy NGS Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Lysosomal Disorders NGS Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Distal Hereditary Myopathy NGS Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
GNE Panel
![](/img/flags/United-states.png)
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Epilepsy NGS Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Charcot-Marie-Tooth Neuropathy Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Congenital Disorders of Glycosylation Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Metabolism Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Metabolic Epilepsy Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Epilepsy Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
DISTAL MYOPATHY, TYPE NONAKA Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Laboratorio de Genetica Clinica SL
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Inclusion Body Myopathy Type 2 , Sequencing GNE Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Sialuria: gene sequencing Panel
![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
GNE-Related Myopathy: gene sequencing Panel
![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GNE gene.
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SUCLA2 PTPRC GRHPR ALG8 SLC6A18