PYGM gene related symptoms and diseases
All the information presented here about the PYGM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PYGM gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Progressive muscle weakness | Very Common - Between 80% and 100% cases |
| Acute rhabdomyolysis | Very Common - Between 80% and 100% cases |
| Exercise-induced muscle cramps | Very Common - Between 80% and 100% cases |
| Dark urine | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PYGM gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Exercise-induced myalgia
- Myoglobinuria
- Acute kidney injury
- Rhabdomyolysis
- Exercise intolerance
- Muscle stiffness
- Abnormality of the cardiovascular system
- Pain
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PYGM gene
Here you will find a list of rare diseases related to the PYGM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY
Alternate names
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY Is also known as glycogen storage disease type 5, myophosphorylase deficiency, glycogen storage disease type v, muscle glycogen phosphorylase deficiency, gsd due to muscle glycogen phosphorylase deficiency, mcardle disease, gsd type v, glycogenosis type 5, glycogenosis type v, gsd
Description
Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.
Most common symptoms of GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY
- Muscle weakness
- Pain
- Flexion contracture
- Skeletal muscle atrophy
- Fatigue
More info about GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY
Search interest in PYGM
Potential gene panels for PYGM gene
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.
PYGM Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PYGM gene.
More info about this panel United States.
PYGM Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PYGM gene.
More info about this panel United States.
PYGM Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PYGM gene.
More info about this panel United States.
PYGM Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the PYGM gene.
More info about this panel United States.
Neuromuscular Disorders Panel Panel
United States.
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 United States.
NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel
United States.
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 panel United States.
NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel
United States.
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 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.
Comprehensive Neuromuscular Panel Panel
United States.
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 United States.
PYGM Mutation Analysis for GSD V Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the PYGM gene.
More info about this panel United States.
Neuromuscular Disorders Sequencing Panel Panel
United States.
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 United States.
Glycogen Storage Disease Type V Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the PYGM gene.
More info about this panel United States.
Glycogene storage disease V - McArdle disease Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
This panel specifically test the PYGM gene.
More info about this panel Czech Republic.
Glycogen Storage Disease and Gluconeogenesis Sequencing Panel Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Glycogen Storage Disease and Gluconeogenesis Sequencing Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA ALDOB GBE1
More info about this panel Czech Republic.
Glycogen Storage Disease Type V Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the PYGM gene.
More info about this panel United Kingdom.
Glycogen Storage Disease- Muscle Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Glycogen Storage Disease- Muscle that also includes the following genes: RBCK1 AGL ENO3 FBP2 GAA ALDOA GBE1 GYG1 GYS1 LDHA
More info about this panel United Kingdom.
Rhabdomyolysis Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Rhabdomyolysis that also includes the following genes: RYR1 SLC22A5 LPIN1 CAV3 RBCK1 CPT1B CPT2 ISCU AGL ENO3
More info about this panel United Kingdom.
PYGM. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PYGM gene.
More info about this panel Spain.
PYGM. Detection of the mutation p.Arg50Stp by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PYGM gene.
More info about this panel Spain.
Glycogen Storage Disease Type V Panel
Portugal.
By CGC Genetics
This panel specifically test the PYGM gene.
More info about this panel Portugal.
Glycogen Storage Disease type V (mutation p.Arg50Stp on PYGM gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PYGM gene.
More info about this panel Portugal.
Glycogen Storage Disease type V (sequence analysis of PYGM gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PYGM gene.
More info about this panel Portugal.
Glycogen storage disease (NGS panel for 22 genes) Panel
Portugal.
By CGC Genetics Glycogen storage disease (NGS panel for 22 genes) that also includes the following genes: SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1
More info about this panel Portugal.
Glycogen storage disease type V (McArdle disease, deletion/duplication analysis of PYGM gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PYGM gene.
More info about this panel Portugal.
Glycogen storage disease type V (McArdle disease, deletion/duplication analysis of PYGM gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PYGM gene.
More info about this panel Portugal.
PYGM Sequence Analysis Panel
Netherlands.
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the PYGM gene.
More info about this panel Netherlands.
McArdle disease-Glycogen storage disease type V Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the PYGM gene.
More info about this panel India.
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA ALDOB GBE1
More info about this panel United States.
Glycogen Storage Disease, Type V (McArdle Disease) via PYGM Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PYGM gene.
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
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 United States.
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel
United States.
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 panel United States.
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.
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis Panel
Germany.
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 panel Germany.
Muscle Pain - fluctuating CK - Rhabdomyolysis Panel
Germany.
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 panel Germany.
PYGM Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the PYGM gene.
More info about this panel Germany.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
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 Germany.
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
Germany.
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 Germany.
Metabolic myopathies panel Panel
Germany.
By Centogene AG - the Rare Disease Company Metabolic myopathies panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ABHD5 CPT2 PNPLA2 AGL ENO3 ETFA
More info about this panel Germany.
McArdle disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PYGM 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.
Glycogen storage disease type V Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PYGM gene.
More info about this panel Germany.
Glycogen storage disease V Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the PYGM gene.
More info about this panel Germany.
Metabolic Myopathies Panel Panel
Germany.
By CeGaT GmbH Metabolic Myopathies Panel that also includes the following genes: SLC16A1 SLC22A5 TAZ LPIN1 SLC25A20 PUS1 RBCK1 RRM2B ABHD5 ACAD9
More info about this panel Germany.
Single gene testing PYGM Panel
Germany.
By CeGaT GmbH
This panel specifically test the PYGM gene.
More info about this panel Germany.
Glycogen Storage Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Glycogen Storage Disease that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1 GYG1
More info about this panel Estonia.
Metabolic Myopathy and Rhabdomyolysis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Metabolic Myopathy and Rhabdomyolysis that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 CAV3
More info about this panel Estonia.
Glycogen Storage Disease Type V (GSDV, McArdle disease), PYGM sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the PYGM gene.
More info about this panel United States.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Dyslipidemias / Early atherosclerosis Panel
Spain.
By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1
More info about this panel Spain.
Familialhypercholesterolemia Extended Panel Panel
Spain.
By Health in Code Familialhypercholesterolemia Extended Panel that also includes the following genes: RYR1 SLCO1B1 SLC22A8 ABCG5 ABCG8 LDLRAP1 CH25H PCSK9 CPT2 COQ2
More info about this panel Spain.
McArdle Disease (Glycogen storage disease V) Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PYGM gene.
More info about this panel Austria.
PYGM Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the PYGM gene.
More info about this panel Austria.
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.
McArdle Disease (Glycogen storage disease V) Panel
Slovakia.
By MedGene
This panel specifically test the PYGM gene.
More info about this panel Slovakia.
Invitae Muscle Glycogen Storage Disease Panel Panel
United States.
By Invitae Invitae Muscle Glycogen Storage Disease Panel that also includes the following genes: RBCK1 ENO3 GAA ALDOA GBE1 GYG1 GYS1 LAMP2 LDHA PFKM
More info about this panel United States.
Invitae Comprehensive Glycogen Storage Disease Panel Panel
United States.
By Invitae Invitae Comprehensive Glycogen Storage Disease Panel that also includes the following genes: SLC2A2 RBCK1 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1
More info about this panel United States.
McArdle disease: PYGM gene mutations analysis (R49X, G204S, Y84X, W797R, 708/709del) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PYGM gene.
More info about this panel Spain.
McArdle disease: PYGM gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PYGM gene.
More info about this panel Spain.
GLYCOGEN STORAGE DISEASE Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases GLYCOGEN STORAGE DISEASE that also includes the following genes: SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1
More info about this panel Spain.
METABOLIC MYOPATHIES Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases METABOLIC MYOPATHIES that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ABHD5 CPT2 PNPLA2 AGL ENO3 ETFA
More info about this panel Spain.
Myophosphorylase Deficiency (McArdle Disease): PYGM Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PYGM gene.
More info about this panel United States.
Myophosphorylase Deficiency (McArdle Disease): PYGM Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PYGM gene.
More info about this panel United States.
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel
United States.
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 United States.
Expanded Neuromuscular Disorders: Sequencing Panel Panel
United States.
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 United States.
Glycogen Storage Disorders- Muscle: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Muscle: Sequencing Panel that also includes the following genes: AGL ENO3 GAA GBE1 GYS1 LAMP2 PFKM PGAM2 PGM1 PHKB
More info about this panel United States.
Glycogen Storage Disorders: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders: Comprehensive Sequencing Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA GBE1 GYS1 GYS2
More info about this panel United States.
Inherited Metabolic Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
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.
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
United States.
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 United States.
Glycogen Storage Disease V (McArdle Disease): PYGM Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PYGM gene.
More info about this panel United States.
Glycogen Storage Disorders- Muscle: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Muscle: Deletion/Duplication Panel that also includes the following genes: AGL ENO3 GAA GBE1 GYS1 LAMP2 PFKM PGAM2 PGM1 PHKB
More info about this panel United States.
Glycogen Storage Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders: Deletion/Duplication Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA GBE1 GYS1 GYS2
More info about this panel United States.
PYGM Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PYGM gene.
More info about this panel United States.
Glycogen Storage Disorder Panel Panel
Finland.
By Blueprint Genetics Glycogen Storage Disorder Panel that also includes the following genes: SLC2A2 RBCK1 NHLRC1 AGL ENO3 EPM2A FBP1 G6PC SLC37A4 GAA
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.
Metabolic Myopathy and Rhabdomyolysis Panel Panel
Finland.
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 panel Finland.
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel
Finland.
By Blueprint Genetics Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel that also includes the following genes: SLC16A1 SLC2A2 HNF1A UCP2 RBCK1 NHLRC1 PTF1A ACSF3 AGL ENO3
More info about this panel Finland.
Glycogen storage disease type 5 Panel
Spain.
By Bioarray
This panel specifically test the PYGM gene.
More info about this panel Spain.
GLYCOGEN STORAGE: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL GLYCOGEN STORAGE: NGS PANEL that also includes the following genes: AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1 GYS2
More info about this panel Spain.
Glycogen Storage Disease Type 5 (McArdle Disease), Sequencing PYGM Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PYGM gene.
More info about this panel Spain.
Glycogen Storage Disease Type 5 (McArdle Disease), Mutations (R49X, G204S, Y84X,W797R, 708/709del) PYGM Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PYGM gene.
More info about this panel Spain.
Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes Panel
Spain.
By Reference Laboratory Genetics Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SLC2A2 AGL G6PC SLC37A4 GAA GBE1 GYS2 PFKM PHKA2 PYGL
More info about this panel Spain.
Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ABHD5 CPT2 PNPLA2 AGL ENO3 ETFA
More info about this panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
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 Spain.
Glycogen storage disease, type V Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the PYGM gene.
More info about this panel Germany.
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.
Glycogen Storage Disease Type V: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PYGM gene.
More info about this panel Canada.
Glycogen Storage Disease Type V: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PYGM gene.
More info about this panel Canada.
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