CRYAB gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CRYAB gene

Symptoms // Phenotype % Cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with CRYAB gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Congestive heart failure
  • Muscular dystrophy
  • Myofibrillar myopathy
  • Dyspnea
  • Respiratory insufficiency
  • Rarely - Less than 30% cases

  • Ventricular arrhythmia
  • Thromboembolism
  • Arrhythmia

And 68 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CRYAB gene

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


ALPHA-B CRYSTALLIN-RELATED LATE-ONSET DISTAL MYOPATHY


Alternate names

ALPHA-B CRYSTALLIN-RELATED LATE-ONSET DISTAL MYOPATHY Is also known as myopathy, myofibrillar, with or without cataract and/or cardiomyopathy, alpha-b crystallinopathy, myopathy, myofibrillar, alpha-b crystallin-related, late-onset distal crystallinopathy, myopathy, desmin-related, associated with mutation in the cryab gene

Description

Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003).A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see {613869}.For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Most common symptoms of ALPHA-B CRYSTALLIN-RELATED LATE-ONSET DISTAL MYOPATHY

  • Muscle weakness
  • Cataract
  • Dysphagia
  • Respiratory insufficiency
  • Respiratory distress


More info about ALPHA-B CRYSTALLIN-RELATED LATE-ONSET DISTAL MYOPATHY

SOURCES: MESH OMIM ORPHANET

FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY


Alternate names

FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY Is also known as mfm, fatal infantile hypertonic, alpha-b crystallin-related

Description

Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.

Most common symptoms of FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY

  • Seizures
  • Flexion contracture
  • Respiratory insufficiency
  • Myopathy
  • Hypertonia


More info about FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY

SOURCES: OMIM ORPHANET

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY


Alternate names

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc

Description

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

SOURCES: OMIM ORPHANET

CARDIOMYOPATHY, DILATED, 1II; CMD1II


Most common symptoms of CARDIOMYOPATHY, DILATED, 1II; CMD1II

  • Cataract
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dilated cardiomyopathy


More info about CARDIOMYOPATHY, DILATED, 1II; CMD1II

SOURCES: OMIM

CATARACT 16, MULTIPLE TYPES; CTRCT16


Alternate names

CATARACT 16, MULTIPLE TYPES; CTRCT16 Is also known as cataract, posterior polar, 2, cataract, congenital lamellar, ctpp2

Description

Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as congenital posterior polar, congenital lamellar, and juvenile. Autosomal dominant and autosomal recessive forms have been described.The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 2; CTPP2.'

Most common symptoms of CATARACT 16, MULTIPLE TYPES; CTRCT16

  • Cataract
  • Myopia
  • Congenital cataract
  • Retinal dystrophy
  • Retinal detachment


More info about CATARACT 16, MULTIPLE TYPES; CTRCT16

SOURCES: OMIM


Potential gene panels for CRYAB 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

Distal Myopathy Advanced Sequencing Evaluation Panel

United States.

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

Myofibrillar Myopathy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Myofibrillar Myopathy Advanced Sequencing Evaluation that also includes the following genes: MYOT TTN LDB3 SELENON CRYAB DES FHL1 FLNC BAG3

More info about this panel

Comprehensive Cardiac Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

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

Dilated & Arrhythmogenic Cardiomyopathies Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Dilated & Arrhythmogenic Cardiomyopathies Panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN

More info about this panel

Pan-cardiomyopathy panel Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Pan-cardiomyopathy panel that also includes the following genes: RYR2 SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

Cardiomyopathy Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1

More info about this panel

Dilated Cardiomyopathy Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dilated Cardiomyopathy Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

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

Restrictive Cardiomyopathy Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Restrictive Cardiomyopathy that also includes the following genes: TNNI3 TNNT2 TTR ACTC1 CRYAB DES MYBPC3 MYH7 BAG3

More info about this panel

Dilated Cardiomyopathy Panel (30 genes) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Dilated Cardiomyopathy Panel (30 genes) that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

More info about this panel

Comprehensive Cardiomyopathy Panel (37 genes) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Comprehensive Cardiomyopathy Panel (37 genes) that also includes the following genes: SCN5A SCO2 SGCD SURF1 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Restrictive Cardiomyopathy Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Restrictive Cardiomyopathy Panel that also includes the following genes: TNNI3 TNNT2 TTR ACTC1 CRYAB DES MYBPC3 MYH7 BAG3

More info about this panel

DCM and DMD related Cardiomyopathy Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center DCM and DMD related Cardiomyopathy that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

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

DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN

More info about this panel

Pan Cardiomyopathy Panel (62 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pan Cardiomyopathy Panel (62 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN

More info about this panel

Comprehensive Cardiomyopathy Panel Panel

United States.

By GeneDx Comprehensive Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3

More info about this panel

Myofibrillar myopathy, alpha-B-crystallin related 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 CRYAB gene.

More info about this panel

CardioNext with TTN Panel

United States.

By Ambry Genetics CardioNext with TTN that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TAZ TBX1 TBX20 TBX5

More info about this panel

CMNext with TTN Panel

United States.

By Ambry Genetics CMNext with TTN that also includes the following genes: RYR2 SCN5A TAZ TBX20 TCAP TGFB3 TMPO TNNC1 TNNI3 TNNT2

More info about this panel

CustomNext: Cardio Panel

United States.

By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20

More info about this panel

Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related (sequence analysis of CRYAB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CRYAB gene.

More info about this panel

Cataracts (NGS panel for 41 genes) Panel

Portugal.

By CGC Genetics Cataracts (NGS panel for 41 genes) that also includes the following genes: BFSP1 BFSP2 VIM WFS1 FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12

More info about this panel

Distal Hereditary Myopathy Sequencing Panel Panel

United States.

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

Congenital Cataracts Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Cataracts Sequencing Panel with CNV Detection that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA

More info about this panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel

Dilated Cardiomyopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dilated Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Pan Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN5A SCO2 SGCD SGCG BRAF SOS1 TAZ TCAP TGFB3

More info about this panel

Myofibrillar Myopathy via CRYAB Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CRYAB 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

Distal Myopathy NGS panel Panel

United States.

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

More info about this panel

Distal Myopathy Comprehensive panel Panel

United States.

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

More info about this panel

Distal Myopathy Deletion / Duplication panel Panel

United States.

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

Myofibrillar myopathy and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders NGS panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC

More info about this panel

Myofibrillar myopathy and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders Comprehensive panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC

More info about this panel

Myofibrillar myopathy and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders Deletion / Duplication panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC

More info about this panel

Hypertrophic cardiomyopathy - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hypertrophic cardiomyopathy - different panels that also includes the following genes: RIT1 MRPL3 RRAS SLC22A5 BRAF SOS1 SOS2 SURF1 TNNI3 TNNT2

More info about this panel

Histological Myofibrillar Myopathy Panel

Germany.

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

Cataract Panel

Germany.

By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B

More info about this panel

Myofibrillar Myopathy related to CRYAB Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the CRYAB gene.

More info about this panel

Heart Diseases - panels Panel

Germany.

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

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

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

More info about this panel

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

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

Myofibrillar Panel Panel

United States.

By FirmaLab Myofibrillar Panel that also includes the following genes: MYOT LDB3 CRYAB DES FLNC BAG3

More info about this panel

Cardiomyopathy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiomyopathy panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Myofibrillar myopathy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Myofibrillar myopathy panel that also includes the following genes: MYOT LDB3 CRYAB DES FHL1 FLNC BAG3

More info about this panel

Myofibrillar myopathy panel Panel

Germany.

By Centogene AG - the Rare Disease Company Myofibrillar myopathy panel that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

More info about this panel

Myopathy, desmin-related, associated with mutation in the CRYAB gene Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CRYAB gene.

More info about this panel

Cataract panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cataract panel that also includes the following genes: BFSP1 BFSP2 VIM WFS1 UNC45B FYCO1 CHMP4B P3H2 VSX2 BCOR

More info about this panel

Alpha-B-Crystallinopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CRYAB gene.

More info about this panel

Cataract, posterior polar type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CRYAB gene.

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

Congenital and Distal Myopathies Panel Panel

Germany.

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

Cataract Panel Panel

Germany.

By CeGaT GmbH Cataract Panel that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 BCOR AGK SLC16A12

More info about this panel

Hypertrophic Cardiomyopathy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hypertrophic Cardiomyopathy that also includes the following genes: SLC25A4 SOS1 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

More info about this panel

Cataract Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM UNC45B FYCO1 PXDN CHMP4B P3H2 VSX2

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Dilated Cardiomyopathy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Dilated Cardiomyopathy that also includes the following genes: SCN5A SGCD TAZ TBX20 TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Congenital Myopathy and Distal Myopathy NGS panel Panel

Estonia.

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

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

More info about this panel

Dilated Cardiomyopathy Panel Panel

Spain.

By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP

More info about this panel

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

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Spain.

By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4

More info about this panel

Cardiomyopathies Panel Panel

Spain.

By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1

More info about this panel

Hypertrophic Cardiomyopathy Extended Panel Panel

Spain.

By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10

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

Dilated Cardiomyopathy Panel Panel

Spain.

By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: TAZ TNNC1 TNNI3 TNNT2 TPM1 TTN ACTA1 ACTC1 CAV3 ANKRD1

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

Hypertrophic cardiomyopathy extended panel Panel

Spain.

By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Panel

United States.

By Invitae Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TGFB3 TNNC1 TNNI3 TNNT2

More info about this panel

Invitae Cardiomyopathy Comprehensive Panel Panel

United States.

By Invitae Invitae Cardiomyopathy Comprehensive Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Invitae Dilated Cardiomyopathy Panel Panel

United States.

By Invitae Invitae Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1

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 Congenital Cataracts Panel Panel

United States.

By Invitae Invitae Congenital Cataracts Panel that also includes the following genes: BFSP1 BFSP2 FYCO1 VSX2 BCOR AGK CRYAA CRYAB CRYBA1 CRYBB1

More info about this panel

Invitae Myofibrillar Myopathy Panel Panel

United States.

By Invitae Invitae Myofibrillar Myopathy Panel that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

More info about this panel

Invitae Distal Myopathy Panel Panel

United States.

By Invitae Invitae Distal Myopathy Panel that also includes the following genes: SQSTM1 TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE CRYAB

More info about this panel

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel

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 Comprehensive Myopathy Panel Panel

United States.

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

Myofibrillar myopathy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Myofibrillar myopathy that also includes the following genes: TPM3 MYOT TTN DNAJB6 LDB3 TRIM32 CRYAB DES FHL1 FLNC

More info about this panel

Dilated Cardiomyopathy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dilated Cardiomyopathy: Sequencing Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

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

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Comprehensive Cardiovascular: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF

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Cardiomyopathy: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cardiomyopathy: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TNNC1 TNNI3

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Cardiomyopathy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cardiomyopathy: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 TAZ TCAP TNNC1

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Comprehensive Cardiovascular: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI BRAF SNTA1

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Dilated Cardiomyopathy: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dilated Cardiomyopathy: Deletion/Duplication Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

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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

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Pan-Cardio NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1

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Distal Hereditary Myopathy NGS Panel Panel

United States.

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

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Myofibrillar Myopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Myofibrillar Myopathy NGS Panel that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

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Dilated Cardiomyopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Dilated Cardiomyopathy NGS Panel that also includes the following genes: SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN VCL ACTC1

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Hypertrophic Cardiomyopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hypertrophic Cardiomyopathy NGS Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3

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CRYAB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CRYAB gene.

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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

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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

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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

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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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Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

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Genetic Study of Hypertrophic Cardiomyopathy Panel (2 panels: 57 genes or 18 genes) Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Genetic Study of Hypertrophic Cardiomyopathy Panel (2 panels: 57 genes or 18 genes) that also includes the following genes: BRAF TCAP TNNC1 TNNI3 TNNT2 TPM1 ACTC1 LDB3 CRYAB CSRP3

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Congenital Cataract, Autosomal Recessive NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Congenital Cataract, Autosomal Recessive NGS and Deletion/Duplication Panel that also includes the following genes: FYCO1 AGK CRYAA CRYAB CRYBB1 CRYBB3 SIL1 CTDP1 TDRD7 GALK1

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Restrictive Cardiomyopathy NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Restrictive Cardiomyopathy NGS and Deletion/Duplication Panel that also includes the following genes: TNNI3 TNNT2 TTR ACTC1 MYPN CRYAB DES MYBPC3 MYH7 BAG3

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CRYAB Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the CRYAB gene.

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Cardiomyopathy Exome Panel Panel

United States.

By Northwest Clinical Genomics Laboratory University of Washington Cardiomyopathy Exome Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1

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FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL that also includes the following genes: MRPL3 SCN5A SGCD TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2

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MYOFIBRILLAR MYOPATHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MYOFIBRILLAR MYOPATHY NGS PANEL that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

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MYOFIBRILLAR MYOPATHY Panel

Spain.

By Laboratorio de Genetica Clinica SL MYOFIBRILLAR MYOPATHY that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

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FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL that also includes the following genes: SCN5A SGCD TAZ TBX20 TBX5 TCAP TMPO TNNC1 TNNI3 TPM1

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FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERTROPHIC CARDIOMYOPATHY: NGS PANEL that also includes the following genes: MRPL3 SCN5A TCAP KLF10 TNNC1 TNNI3 TNNT2 TPM1 TTN VCL

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Myofibrillar Myopathy, Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Myofibrillar Myopathy, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

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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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Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA

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Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel

Spain.

By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ

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Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN5A SDHA SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2

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Phosphorus Pan Cardiomyopathy Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TGFB3 TNNC1 TNNI3 TNNT2

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Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2

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Phosphorus Pan Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 SOS2 TAZ

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 SNTA1 TAZ TCAP TGFB3

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF

More info about this panel

Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SDHA SGCD SLC22A5 BRAF SOS1 SOS2

More info about this panel

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 SNTA1 TAZ TCAP

More info about this panel

Phosphorus Dilated Cardiomyopathy Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1

More info about this panel


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