DYSF gene related symptoms and diseases
All the information presented here about the DYSF gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DYSF gene
Symptoms // Phenotype | % Cases |
---|---|
Myopathy | Common - Between 50% and 80% cases |
Elevated serum creatine phosphokinase | Common - Between 50% and 80% cases |
Muscle weakness | Uncommon - Between 30% and 50% cases |
Difficulty walking | Uncommon - Between 30% and 50% cases |
Distal muscle weakness | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with DYSF gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Muscular dystrophy
- Lower limb muscle weakness
- Distal amyotrophy
- Limb-girdle muscular dystrophy
- Difficulty climbing stairs
- Skeletal muscle atrophy
Rarely - Less than 30% cases
- EMG: myopathic abnormalities
- Limb muscle weakness
And 24 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DYSF gene
Here you will find a list of rare diseases related to the DYSF. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MIYOSHI MYOPATHY
Description
Miyoshi myopathy (MM) is a distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.
More info about MIYOSHI MYOPATHY
SOURCES: ORPHANET
MIYOSHI MUSCULAR DYSTROPHY 1; MMD1
Alternate names
MIYOSHI MUSCULAR DYSTROPHY 1; MMD1 Is also known as muscular dystrophy, distal, late-onset, autosomal recessive, miyoshi myopathy
Description
Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. Patients showed impaired tiptoe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986).
Most common symptoms of MIYOSHI MUSCULAR DYSTROPHY 1; MMD1
- Muscle weakness
- Skeletal muscle atrophy
- Myopathy
- Elevated serum creatine phosphokinase
- Difficulty walking
More info about MIYOSHI MUSCULAR DYSTROPHY 1; MMD1
SOURCES: OMIM
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B
Alternate names
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B Is also known as lgmd2b, limb-girdle muscular dystrophy due to dysferlin deficiency, muscular dystrophy, limb-girdle, type 3, lgmd3, muscular dystrophy, limb-girdle, type 2b
Description
Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B
- Generalized hypotonia
- Muscle weakness
- Skeletal muscle atrophy
- Fatigue
- Abnormality of the skeletal system
More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B
DISTAL MYOPATHY WITH ANTERIOR TIBIAL ONSET
Alternate names
DISTAL MYOPATHY WITH ANTERIOR TIBIAL ONSET Is also known as distal anterior compartment myopathy
Description
Distal myopathy with anterior tibial onset is a rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.
Most common symptoms of DISTAL MYOPATHY WITH ANTERIOR TIBIAL ONSET
- Myopathy
- Elevated serum creatine phosphokinase
- Distal muscle weakness
- Distal amyotrophy
More info about DISTAL MYOPATHY WITH ANTERIOR TIBIAL ONSET
CONGENITAL MYOPATHY, PARADAS TYPE
Description
Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.
More info about CONGENITAL MYOPATHY, PARADAS TYPE
SOURCES: ORPHANET
Search interest in DYSF
Potential gene panels for DYSF gene
Dysferlin DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the DYSF gene.
More info about this panelDistal 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 panelLimb Girdle Muscular Dystrophy Advanced Evaluation Panel
By Athena Diagnostics Inc Limb Girdle Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelMuscular Dystrophy Advanced Evaluation Panel
By Athena Diagnostics Inc Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CCDC78 CAPN3 DNAJB6
More info about this panelNeuromuscular 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 panelNGS Rhabdomyolysis and Metabolic Myopathies Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1
More info about this panelNGS Rhabdomyolysis and Metabolic Myopathies Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1
More info about this panelComprehensive 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 panelLimb-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 panelNeuromuscular 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 panelLimb-Girdle Muscular Dystrophy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Limb-Girdle Muscular Dystrophy Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb-Girdle Muscular Dystrophy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelDYSF. Detection of the mutations 1624delG and 927delG by sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the DYSF gene.
More info about this panelDYSF. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the DYSF gene.
More info about this panelDYSF. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the DYSF gene.
More info about this panelLimb-Girdle Muscular Dystrophies AR type 2B (2 mutations on DYSF gene) Panel
By CGC Genetics
This panel specifically test the DYSF gene.
More info about this panelMiyoshi muscular dystrophy 1 (sequence analysis of DYSF gene) Panel
By CGC Genetics
This panel specifically test the DYSF gene.
More info about this panelLimb-girdle muscular dystrophies (NGS panel for 26 genes) Panel
By CGC Genetics Limb-girdle muscular dystrophies (NGS panel for 26 genes) that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelCongenital muscular dystrophies (NGS panel for 31 genes) Panel
By CGC Genetics Congenital muscular dystrophies (NGS panel for 31 genes) that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1
More info about this panelMiyoshi muscular dystrophy 1 (deletions/duplications analysis of DYSF gene) Panel
By CGC Genetics
This panel specifically test the DYSF gene.
More info about this panelLimb-girdle muscular dystrophy type 2B (LGMD2B, deletion/duplication analysis of DYSF gene) Panel
By CGC Genetics
This panel specifically test the DYSF gene.
More info about this panelMiyoshi muscular dystrophy 1 (deletions/duplications analysis of DYSF gene) Panel
By CGC Genetics
This panel specifically test the DYSF gene.
More info about this panelLimb-girdle muscular dystrophy type 2B (LGMD2B, deletion/duplication analysis of DYSF gene) Panel
By CGC Genetics
This panel specifically test the DYSF gene.
More info about this panelDysferlin (DYSF) Sequencing Panel
By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics
This panel specifically test the DYSF gene.
More info about this panelDistal 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 panelLimb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 DNAJB6
More info about this panelLimb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy via DYSF Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the DYSF gene.
More info about this panelComprehensive 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 panelMetabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel that also includes the following genes: RYR1 SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 RBCK1 COQ8A
More info about this panelDistal 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 panelDistal 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 panelDistal 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 panelLimb girdle muscular dystrophy Comprehensive panel Panel
By Connective Tissue Gene Tests Limb girdle muscular dystrophy Comprehensive panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb girdle muscular dystrophy Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Limb girdle muscular dystrophy Deletion / Duplication panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb girdle muscular dystrophy NGS panel Panel
By Connective Tissue Gene Tests Limb girdle muscular dystrophy NGS panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelMetabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis Panel
By MGZ Medical Genetics Center Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis that also includes the following genes: RYR1 SLC22A5 LPIN1 FKRP ABHD5 CPT2 ANO5 DMD ISCU FDX2
More info about this panelMuscle Pain - fluctuating CK - Rhabdomyolysis Panel
By MGZ Medical Genetics Center Muscle Pain - fluctuating CK - Rhabdomyolysis that also includes the following genes: RYR1 SCN4A TTN TTR LPIN1 CACNA1S FKRP CLCN1 CPT2 ANO5
More info about this panelMuscular Dystrophy: Limb Girdle - autosomal recessive Panel
By MGZ Medical Genetics Center Muscular Dystrophy: Limb Girdle - autosomal recessive that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TTN CAPN3 TRIM32 FKRP POMGNT1
More info about this panelLimb-Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy related to DYSF Gene Panel
By MGZ Medical Genetics Center
This panel specifically test the DYSF gene.
More info about this panelMuscle 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 panelMuscle 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 panelMuscle 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 panelDistal 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 panelLimb Girdle Muscular Dystrophy Autosomal Recessive Panel Panel
By FirmaLab Limb Girdle Muscular Dystrophy Autosomal Recessive Panel that also includes the following genes: SGCA SGCB SGCE SGCG TCAP TTN CAPN3 TRIM32 FKRP ANO5
More info about this panelMiyoshi myopathy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DYSF gene.
More info about this panelMyopathy, distal with anterior tibial onset Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DYSF gene.
More info about this panelLimb-girdle muscular dystrophy, autosomal recessive type 2B Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DYSF gene.
More info about this panelLimb-girdle muscular dystrophy panel Panel
By Centogene AG - the Rare Disease Company Limb-girdle muscular dystrophy panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelAllNeuro 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 panelCongenital 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 panelMuscular Dystrophies Panel Panel
By CeGaT GmbH Muscular Dystrophies Panel that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1
More info about this panelLimb-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 panelSingle gene testing DYSF Panel
By CeGaT GmbH
This panel specifically test the DYSF gene.
More info about this panelLimb-Girdle Muscular Dystrophy type 2 (LGMD2) Panel
By Laboratory of Human Genetics GENOMED Health Care Center Limb-Girdle Muscular Dystrophy type 2 (LGMD2) that also includes the following genes: SGCA SGCD SGCG TCAP CAPN3 FKRP POMGNT1 POMT2 TRAPPC11 ANO5
More info about this panelLimb girdle muscular dystrophy 2B Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the DYSF gene.
More info about this panelLimb girdle muscular dystrophy-Panel Panel
By MVZ Dortmund Dr. Eberhard & Partner Limb girdle muscular dystrophy-Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT CAPN3 DNAJB6 CAV3 TRIM32
More info about this panelDysferlin Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the DYSF gene.
More info about this panelCongenital 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 panelLimb-Girdle Muscular Dystrophy Panel
By Asper Biogene Asper Biogene LLC Limb-Girdle Muscular Dystrophy that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb girdle muscular dystrophy 2B, DYSF sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the DYSF gene.
More info about this panelMuscular dystrophy, limb-girdle 2B Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the DYSF gene.
More info about this panelMiyoshi muscular dystrophy 1 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the DYSF gene.
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelMiyoshi muscular dystrophy 1 Panel
By MedGene
This panel specifically test the DYSF gene.
More info about this panelMuscular dystrophy, limb-girdle 2B Panel
By MedGene
This panel specifically test the DYSF gene.
More info about this panelInvitae 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 panelInvitae Comprehensive Muscular Dystrophy Panel Panel
By Invitae Invitae Comprehensive Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN RXYLT1 CAPN3 DNAJB6
More info about this panelInvitae 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 panelInvitae 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 panelInvitae 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 panelInvitae Limb-Girdle Muscular Dystrophy Panel Panel
By Invitae Invitae Limb-Girdle Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb-girdle muscular dystrophy type 2B (LGMD 2B): DYSF gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the DYSF gene.
More info about this panelLimb-girdle muscular dystrophy type 2B (LGMD 2B): DYSF gene deletions-duplications analysis (MLPA) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the DYSF gene.
More info about this panelLIMB-GIRDLE MUSCULAR DYSTROPHY Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LIMB-GIRDLE MUSCULAR DYSTROPHY that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLIMB-GIRDLE MUSCULAR DYSTROPHY, A.R. Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LIMB-GIRDLE MUSCULAR DYSTROPHY, A.R. that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TTN CAPN3 TRIM32 FKRP POMGNT1
More info about this panelLimb-Girdle Muscular Dystrophy Type 2B: DYSF Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the DYSF gene.
More info about this panelLimb-Girdle Muscular Dystrophy Type 2B: DYSF Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the DYSF gene.
More info about this panelNeuromuscular 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 panelExpanded 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 panelLimb-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 panelExpanded 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 panelMuscular Dystrophies NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Muscular Dystrophies NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN MMEL1 CAPN3 DNAJB6
More info about this panelNeuromuscular NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Neuromuscular NGS Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panelLimb-Girdle Muscular Dystrophy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Limb-Girdle Muscular Dystrophy NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelDistal 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 panelDYSF Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DYSF gene.
More info about this panelCardiomyopathy Panel Panel
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panelLGMD and Congenital Muscular Dystrophy Panel Panel
By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelComprehensive Muscular Dystrophy / Myopathy Panel Panel
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelComprehensive 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 panelMetabolic Myopathy and Rhabdomyolysis Panel Panel
By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1
More info about this panelDilated Cardiomyopathy (DCM) Panel Panel
By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panelAutosomal recessive limb-girdle muscular dystrophy type 2B Panel
By Bioarray
This panel specifically test the DYSF gene.
More info about this panelMiyoshi myopathy Panel
By Bioarray
This panel specifically test the DYSF gene.
More info about this panelMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B (AUTOSOMAL RECESSIVE) (DYSFERLIN DEFIC.) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the DYSF gene.
More info about this panelMIYOSHI MYOPATHY Panel
By Laboratorio de Genetica Clinica SL MIYOSHI MYOPATHY that also includes the following genes: ANO5 DYSF
More info about this panelMUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL that also includes the following genes: SGCA SGCB SGCD SGCG BVES TCAP MYOT TTN CAPN3 DNAJB6
More info about this panelLimb-girdle muscular dystrophy panel Panel
By LifeLabs Genetics Limb-girdle muscular dystrophy panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb-Girdle Muscular Dystrophy Type 2B, Sequencing DYSF Gene Panel
By Reference Laboratory Genetics
This panel specifically test the DYSF gene.
More info about this panelAutosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 17 Genes Panel
By Reference Laboratory Genetics Autosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TTN CAPN3 TRIM32 FKRP POMGNT1
More info about this panelLimb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes Panel
By Reference Laboratory Genetics Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelMuscle 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
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