CAPN3 gene related symptoms and diseases

All the information presented here about the CAPN3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CAPN3 gene

Symptoms // Phenotype % Cases
Muscle weakness Very Common - Between 80% and 100% cases
Difficulty walking Very Common - Between 80% and 100% cases
Limb-girdle muscular dystrophy Very Common - Between 80% and 100% cases
Scapular winging Very Common - Between 80% and 100% cases
Muscular dystrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CAPN3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Proximal muscle weakness
  • Calf muscle hypertrophy
  • Flexion contracture
  • Elevated serum creatine phosphokinase
  • Myopathy
  • Not very common - Between 30% and 50% cases

  • Wrist flexion contracture
  • Myofibrillar myopathy
  • Myositis

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CAPN3 gene

Here you will find a list of rare diseases related to the CAPN3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A


Alternate names

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A Is also known as lgmd2a, muscular dystrophy, limb-girdle, type 1i, lgmd1i, limb-girdle muscular dystrophy due to calpain deficiency, primary calpainopathy

Description

Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.

Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy
  • Gait disturbance


More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

SOURCES: OMIM ORPHANET

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1


Alternate names

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1 Is also known as lgmd2, muscular dystrophy, limb-girdle, type 2a, lgmd2a, muscular dystrophy, pelvofemoral, calpainopathy, leyden-moebius muscular dystrophy, muscular dystrophy, limb-girdle, type 2

Description

Autosomal recessive limb-girdle muscular dystrophy-1 affects primarily the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures (summary by Mercuri et al., 2005). Genetic Heterogeneity of Autosomal Recessive Limb-Girdle Muscular DystrophyAutosomal recessive LGMD is genetically heterogeneous.LGMDR2 (OMIM ), previously symbolized LGMD2B, is caused by mutation in the dysferlin gene (DYSF ) on 2p13. LGMDR3 (OMIM ), previously symbolized LGMD2D, is caused by mutation in the alpha-sarcoglycan gene (SGCA ) on 17q21. LGMDR4 (OMIM ), previously symbolized LGMD2E, is caused by mutation in the beta-sarcoglycan gene (SGCB ) on 4q12. LGMDR5 (OMIM ), previously symbolized LGMD2C, is caused by mutation in the gamma-sarcoglycan gene (SGCG ) on 13q12. LGMDR6 (OMIM ), previously symbolized LGMD2F, is caused by mutation in the delta-sarcoglycan gene (SGCD ) on 5q33. LGMDR7 (OMIM ), previously symbolized LGMD2G, is caused by mutation in the TCAP gene (OMIM ) on 17q12. LGMDR8 (OMIM ), previously symbolized LGMD2H, is caused by mutation in the TRIM32 gene (OMIM ) on 9q33. LGMDR9 (OMIM ), previously symbolized LGMD2I, is caused by mutation in the FKRP gene (OMIM ) on 19q13. LGMDR10 (OMIM ), previously symbolized LGMD2J, is caused by mutation in the titin gene (TTN ) on 2q31. LGMDR11 (OMIM ), previously symbolized LGMD2K, is caused by mutation in the POMT1 gene (OMIM ) on 9q34. LGMDR12 (OMIM ), previously symbolized LGMD2L, is caused by mutation in the ANO5 gene (OMIM ) on 11p14. LGMDR13 (OMIM ), previously symbolized LGMD2M, is caused by mutation in the FKTN gene (OMIM ) on 9q31. LGMDR14 (OMIM ), previously symbolized LGMD2N, is caused by mutation in the POMT2 gene (OMIM ) on 14q24. LGMDR15 (OMIM ), previously symbolized LGMD2O, is caused by mutation in the POMGNT1 gene (OMIM ) on 1p34. LGMDR16 (OMIM ), previously symbolized LGMD2P, is caused by mutation in the DAG1 gene (OMIM ) on 3p21. LGMDR17 (OMIM ), previously symbolized LGMD2Q, is caused by mutation in the PLEC1 gene (OMIM ) on 8q24. LGMDR18 (OMIM ), previously symbolized LGMD2S, is caused by mutation in the TRAPPC11 gene (OMIM ) on 4q35. LGMDR19 (OMIM ), previously symbolized LGMD2T, is caused by mutation in the GMPPB gene (OMIM ) on 3p21. LGMDR20 (OMIM ), previously symbolized LGMD2U, is caused by mutation in the ISPD gene (OMIM ) on 7p21. LGMDR21 (OMIM ), previously symbolized LGMD2Z, is caused by mutation in the POGLUT1 gene (OMIM ) on 3q13.Some forms of autosomal recessive LGMD were reclassified by Straub et al. (2018). LGMD2R was reclassified as a form of myofibrillar myopathy (MFM1 ). For forms previously designated LGMD2W, LGMD2X, and LGMD2Y, see {616827}, {616812}, and {617072}, respectively.For a discussion of autosomal dominant LGMD, see LGMDD1 (OMIM ).

Most common symptoms of MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

  • Muscle weakness
  • Flexion contracture
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Difficulty walking


More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

SOURCES: OMIM


Potential gene panels for CAPN3 gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

CAPN3 Evaluation Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the CAPN3 gene.

More info about this panel

CAPN3 Duplication/Deletion Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the CAPN3 gene.

More info about this panel

Limb Girdle Muscular Dystrophy Advanced Evaluation Panel

United States.

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 panel

Muscular Dystrophy Advanced Evaluation Panel

United States.

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 panel

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

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

Limb-Girdle Muscular Dystrophy Panel

United States.

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

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

Limb-Girdle Muscular Dystrophy Sequencing Panel Panel

United States.

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 panel

Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel Panel

United States.

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 panel

CAPN3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CAPN3 gene.

More info about this panel

Limb-girdle muscular dystrophies (NGS panel for 26 genes) Panel

Portugal.

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 panel

Limb-girdle muscular dystrophy 2A (LGMD2A, sequence analysis of CAPN3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CAPN3 gene.

More info about this panel

Limb-girdle muscular dystrophy type 2A (LGMD2A, deletion/duplication analysis on CAPN3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CAPN3 gene.

More info about this panel

Limb-girdle muscular dystrophy type 2A (LGMD2A, deletion/duplication analysis on CAPN3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CAPN3 gene.

More info about this panel

CALPAINOPATHY Panel

Belgium.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique

This panel specifically test the CAPN3 gene.

More info about this panel

Calpain (CAPN3) Sequencing Panel

United States.

By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics

This panel specifically test the CAPN3 gene.

More info about this panel

Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel

United States.

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 panel

Limb Girdle Muscular Dystrophy Type 2A via CAPN3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CAPN3 gene.

More info about this panel

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

Limb girdle muscular dystrophy Comprehensive panel Panel

United States.

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 panel

Limb girdle muscular dystrophy Deletion / Duplication panel Panel

United States.

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 panel

Limb girdle muscular dystrophy NGS panel Panel

United States.

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 panel

Muscular Dystrophy: Limb Girdle - autosomal recessive Panel

Germany.

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 panel

CAPN3 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the CAPN3 gene.

More info about this panel

Muscle Disease with Contractures and/or Rigid Spine Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with Contractures and/or Rigid Spine that also includes the following genes: RYR1 TNNT1 TPM2 TPM3 ACTA1 CAPN3 SELENON SYNE2 SYNE1 CFL2

More info about this panel

Muscle Disease with Distal Myopathy Panel

Germany.

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

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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

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Muscle Disease with FSHD Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with FSHD Phenocopies that also includes the following genes: SGCA VCP CAPN3 SMCHD1 FHL1

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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

Limb Girdle Muscular Dystrophy Autosomal Recessive Panel Panel

United States.

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 panel

Limb-girdle muscular dystrophy, autosomal recessive type 2A Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CAPN3 gene.

More info about this panel

Muscular dystrophy, limb-girdle, type 2A Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CAPN3 gene.

More info about this panel

Limb-girdle muscular dystrophy panel Panel

Germany.

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 panel

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

Limb-Girdle Muscular Dystrophies Panel Panel

Germany.

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

Single gene testing CAPN3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the CAPN3 gene.

More info about this panel

Limb-Girdle Muscular Dystrophy type 2 (LGMD2) Panel

Poland.

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 panel

LGMD2A, CAPN3 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the CAPN3 gene.

More info about this panel

Limb girdle muscular dystrophy 2A Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the CAPN3 gene.

More info about this panel

Limb girdle muscular dystrophy-Panel Panel

Germany.

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 panel

Limb-Girdle Muscular Dystrophy Panel

Estonia.

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 panel

Limb-girdle muscular dystrophy type 2A (LGMD2A), CAPN3 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the CAPN3 gene.

More info about this panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA

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Skeletal Myopathy Panel Panel

Spain.

By Health in Code Skeletal Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SLC22A5 SLC25A4 SURF1 TAZ TCAP TNNI3 MYOT

More info about this panel

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

Skeletal myopathy Panel Panel

Spain.

By Health in Code Skeletal myopathy Panel that also includes the following genes: SCO2 SDHA SGCA SGCB SGCD SLC22A5 SLC25A3 SLC25A4 SURF1 TAZ

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Muscular dystrophy, limb-girdle 2A Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CAPN3 gene.

More info about this panel

CAPN3 Gene Sequencing Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the CAPN3 gene.

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qCarrier Plus Panel

Spain.

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 panel

Muscular dystrophy, limb-girdle 2A Panel

Slovakia.

By MedGene

This panel specifically test the CAPN3 gene.

More info about this panel

Invitae Comprehensive Neuromuscular Disorders Panel Panel

United States.

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 Comprehensive Muscular Dystrophy Panel Panel

United States.

By Invitae Invitae Comprehensive Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN RXYLT1 CAPN3 DNAJB6

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Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel

United States.

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 Limb-Girdle Muscular Dystrophy Panel Panel

United States.

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 panel

Limb-girdle muscular dystrophy type 2A (LGMD 2A): CAPN3 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CAPN3 gene.

More info about this panel

LIMB-GIRDLE MUSCULAR DYSTROPHY Panel

Spain.

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

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LIMB-GIRDLE MUSCULAR DYSTROPHY, A.R. Panel

Spain.

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 panel

Limb-Girdle Muscular Dystrophy Type 2A: CAPN3 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the CAPN3 gene.

More info about this panel

Limb-Girdle Muscular Dystrophy Type 2A: CAPN3 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the CAPN3 gene.

More info about this panel

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

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

Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel Panel

United States.

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

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

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

Muscular Dystrophies NGS Panel Panel

United States.

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 panel

Neuromuscular NGS Panel Panel

United States.

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 panel

Limb-Girdle Muscular Dystrophy NGS Panel Panel

United States.

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 panel

CAPN3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CAPN3 gene.

More info about this panel

Cardiomyopathy Panel Panel

Finland.

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 panel

LGMD and Congenital Muscular Dystrophy Panel Panel

Finland.

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 panel

Comprehensive Muscular Dystrophy / Myopathy Panel Panel

Finland.

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 panel

Comprehensive Cardiology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA

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Autosomal recessive limb girdle muscular dystrophy type 2A Panel

Spain.

By Bioarray

This panel specifically test the CAPN3 gene.

More info about this panel

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A (AUTOSOMAL RECESSIVE) (CALPAIN DEFIC.) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CAPN3 gene.

More info about this panel

MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL Panel

Spain.

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

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Limb-girdle muscular dystrophy panel Panel

Canada.

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 panel

Limb-Girdle Muscular Dystrophy Type 2A, Sequencing CAPN3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CAPN3 gene.

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Autosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 17 Genes Panel

Spain.

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

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Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes Panel

Spain.

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

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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

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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

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