DES

OMIMHGNC

Synonym(s): CMD1I, CSM1, CSM2

Locus: 2q35

Protein: Desmin

 

Disorders

Filter By:

Test Type
Molecular
Cytogenetic
Panel
Test Method
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Mutation Scanning of Entire Coding Region
Sequencing, Capillary (Sanger)
Sequencing, Next Gen
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Czech Republic
Denmark
Finland
Germany
Spain
United Kingdom
USA

Tests

Test
TAT: 4-6 weeks
price: contact lab
Arrhythmia NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks
price: contact lab
Arrhythmia Panel
method(s): ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 12-13 weeks
price: contact lab
ARVC, Arrhythmogenic Right Ventricular Cardiomyopathy panel
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Aarhus University Hospital, Department of Molecular Medicine - Aarhus, Denmark
TAT: 3-5 weeks
price: $1,490.00
Autosomal Dominant Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $1,940.00
Autosomal Dominant Limb-Girdle Muscular Dystrophy NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,390.00
Autosomal Recessive Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $2,490.00
Autosomal Recessive Limb-Girdle Muscular Dystrophy NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: contact lab
Cardiomyopathies Del/Dup Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 5-6 weeks
price: $4,500.00
Cardiomyopathy (Comprehensive) Panel
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
Cardiomyopathy (Dilated) Multi-Gene Panels
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 8-10 weeks
price: contact lab
Cardiomyopathy (General) Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Cardiomyopathy (General) Multi-Gene Panels
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 12-13 weeks
price: contact lab
Cardiomyopathy: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 10-12 weeks
price: contact lab
Comprehensive Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 8-10 weeks
price: contact lab
Congenital Muscular Dystrophy Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 2-4 weeks
price: contact lab
Core Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 12-13 weeks
price: contact lab
DCM, Familial Dilated Cardiomyopathy panel
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Aarhus University Hospital, Department of Molecular Medicine - Aarhus, Denmark
TAT: 10-12 weeks
price: contact lab
DCM/LVNC Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
DES
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
DES-Related Dilated Cardiomyopathy
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Desminopathy
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
TAT: 3-5 weeks
price: $3,790.00
Dilated Cardiomyopathy Deletion/Duplication panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $3,490.00
Dilated Cardiomyopathy NextGen Sequencing (NGS) panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-6 weeks
price: $3,500.00
Dilated Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
TAT: 12-13 weeks
price: contact lab
Dilated Cardiomyopathy: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 3-5 weeks
price: $2,590.00
Distal Hereditary Myopathy Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $2,590.00
Distal Hereditary Myopathy NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 12-13 weeks
price: contact lab
Expanded Neuromuscular Disorders: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 8-10 weeks
price: contact lab
Fetal Akinesia / Arthrogryposis (AMC) - Multi-gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 2-4 weeks
price: contact lab
Heart Panel
method(s): ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 4-6 weeks
price: contact lab
Limb Girdle Muscular Dystrophy Del/Dup Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-10 weeks
price: contact lab
Limb Girdle Muscular Dystrophy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-5 weeks
price: $2,790.00
Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 8-10 weeks
price: contact lab
Limb-Girdle Muscular Dystrophy Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 5-7 weeks
price: $2,790.00
Limb-Girdle Muscular Dystrophy NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Limb-Girdle Muscular Dystrophy Type 2R
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
TAT: 12-13 weeks
price: contact lab
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Muscular Dystrophies NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-5 weeks
price: $1,590.00
Myofibrillar Myopathy Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,690.00
Myofibrillar Myopathy Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $2,190.00
Myofibrillar Myopathy NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-6 weeks
price: $4,920.00
Myofibrillar Myopathy Sanger Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $680.00
Myofibrillar Myopathy via the DES Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $990.00
Myofibrillar Myopathy via the DES Gene
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-5 weeks
price: contact lab
Myofibrillar Myopathy, DES-related: DES Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 6-7 weeks
price: contact lab
Myofibrillar Myopathy, DES-related: DES Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Myofibrillar myopathy, desmin related (DES) Test
method(s): ◦ Sequencing, Capillary (Sanger) 
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
TAT: 8-10 weeks
price: contact lab
Myopathy/Muscular Dystrophy - entire panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 12-13 weeks
price: contact lab
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Neuromuscular NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 7-8 weeks
price: contact lab
NGS of 13 genes: DES, DSC2, DSG2, DSP, JUP, PKP2, PKP4, PNN, RPSA, RYR2, TGFB3, TMEM43, TTN
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 13 genes: DES, DSC2, DSG2, DSP, JUP, PKP2, PKP4, PNN, RPSA, RYR2, TGFB3, TMEM43, TTN and Detection of large deletions and/ or duplications in genes, DSP and PKP2 by MLPA
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 13-15 weeks
price: contact lab
NGS of 154 genes, ABCA1, ABCC6, ABCC9, ACTA2, HRAS, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNE4, KCNH2, KCNJ11, KCNJ12, KCNJ2, KCNJ3, KCNJ5, KCNJ8, KCNQ1, KCNQ2, KRAS, LAMA4, LAMP2, LDB3, LDLR, LMNA, LPL, LRP6, MAP2K1, MAP2K2, MEF2A,
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 17 genes: DES, EMD, GAA, GLA, HCN1, HCN4, KCNA5, KCNQ1, LAMP2, LMNA, MYH6, NKX2-5, PRKAG2, SCN5A, SCN1B, SCN4B, TRPM4
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 34 genes: ACT A1, ATP2A1, BAG3, BIN1, CAV3, CFL2, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB, DES, DNM2, DYSF, FH L1, FLNC, GNE, ISCU, KBTBD13, LDB3, MATR3, MTM1, M YH2, MYH7, MYOT, NEB, RYR1, SEPN1, TNNT1, TPM2, TP M3, TTN, VCP
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 44 genes: ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, ANKRD1, BAG3, CRYAB, CSRP3, CTF1, DES, DMD, DSG2, EYA4, FHL2, FKTN, FKRP, ILK, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 44 genes: ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, ANKRD1, BAG3, CRYAB, CSRP3, CTF1, DES, DMD, DSG2, EYA4, FHL2, FKTN, FKRP, ILK, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 6 genes: BAG3, CRYAB, DES, FLNC, LDB3, MYOT.
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 6 genes: BAG3, CRYAB, DES, FLNC, LDB3, MYOT.
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 12-13 weeks
price: contact lab
NGS of 62 genes: ABCC9, AKAP9, ANK2, BAG3, SCNN1G, SNTA1, TGFB3, TMEM43, TRPM4, TTN and Detection of large deletions and/or duplications in the KCNE1, KCNQ1, KCNH2, KCNE2, SCN5A by MLPA. CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CASQ2, CAV3, CRYAB, DES
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 12-13 weeks
price: contact lab
NGS of 62 genes: ABCC9, AKAP9, ANK2, BAG3, SCNN1G, SNTA1, TGFB3, TMEM43, TRPM4, TTN. CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CASQ2, CAV3, CRYAB, DES, DPP6, DSC2, DSG2, DSP, FLNC, GJA1, GJA5, GPD1L, HCN1, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2,
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 8 genes: ACTC1, DES, MYH7, MYPN, TNNI3, TNNT2, TNNC1, TTR
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 12-13 weeks
price: contact lab
NGS of 90 genes: PSEN1, PSEN2, PTPN11, RAF1, RBM20, RPSA, RYR2, SCN5A, SDHA, SGCD, SHOC2, SLC25A4, SOS1, SPRED1, SYNE1, SYNE2, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, AGL, ANK2, AN
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-8 weeks
price: contact lab
Paediatric Cardiomyopathy NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
TAT: 2-4 weeks
price: contact lab
Pan Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 4-6 weeks
price: contact lab
Pan-Cardiovascular NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 weeks
price: contact lab
Sudden Death Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA