EMD

OMIMHGNC

Synonym(s): STA, LEMD5

Locus: Xq28

Protein: Emerin

 

Disorders

Tests

Test Type
Molecular (128)
Multi-Gene Panel (107)
Multi-Method Panel (53)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (1)
Del/Dup (CNV) (53)
Mutation Scanning of Entire Coding Region (9)
Sequencing, Capillary (Sanger) (29)
Genotyping (Microarray, Beads, etc.) (1)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (98)
Prenatal/Carrier
Prenatal (41)
Carrier (68)
Lab Location
USA(65)
Germany(16)
Netherlands(2)
Spain(13)
Portugal(2)
Canada(16)
Bulgaria(1)
United Kingdom(1)
Poland(3)
Finland(8)
Austria(1)
 
TAT: 12-16 weeks
price: $1,880.00
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, NGS Panel (50 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 4-8 weeks
price: $635.00
Analysis EMD gene (Emery-Dreifuss Muscular Dystrophy, X-Linked)
method(s): ◦ Sequencing, Capillary (Sanger) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 2-4 weeks
price: contact lab
EMD Full Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
TAT: 6-8 weeks
price: contact lab
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 6-8 weeks
price: contact lab
Pan Cardiomyopathy Panel (62 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 2-3 weeks
price: contact lab
EMD-Related Emery Dreifuss Muscular Dystrophy Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
EMD-Related Emery-Dreifuss Muscular Dystrophy, X-Linked
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 4-5 weeks
price: contact lab
Emery-Dreifuss Muscular Dystophy, X-linked: EMD Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
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: 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: 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: 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: 6-7 weeks
price: contact lab
Emery-Dreifuss Muscular Dystophy, X-linked: EMD Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 9-10 weeks
price: contact lab
Sanger sequencing of the EMD gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 5 genes: EMD, FHL1, LMNA, SYNE1, SYNE2.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
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): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 25 genes: ANO 5, CAPN3, CAV3, DAG1, DMD, DYSF, EMD, FHL1, FKRP, FKTN, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGC A, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TRIM32, TTN
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 8 genes: ANO5 , DMD, DYSF, EMD, FHL1, LMNA, SYNE1, SYNE2.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 5 genes: EMD, FHL1, LMNA, SYNE1, SYNE2.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
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): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
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): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 8-9 weeks
price: contact lab
Congenital Myopathy with Prominent Contractures Seq Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 6-7 weeks
price: contact lab
Congenital Myopathy with Prominent Contractures Del/Dup Panel
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 6-8 weeks
price: contact lab
Paediatric Cardiomyopathy NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 10-12 weeks
price: contact lab
DCM/LVNC Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 10-12 weeks
price: contact lab
Comprehensive Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
X-Linked Emery-Dreifuss Muscular Dystrophy Type 1, Sequencing EMD Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 7-10 days
price: contact lab
Emery-Dreifuss Myopathy: X-Linked
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 10-12 weeks
price: contact lab
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Cardiomyopathy and Arrhythmia Panel, Sequencing, 85 Genes
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 3-4 weeks
price: contact lab
X Chromosome Ultra-High Density Microarray
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Neuromuscular Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Cardiac Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 4-6 weeks
price: contact lab
CardioGene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
Emery-Dreifuss muscular dystrophy (sequence analysis of EMD gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Congenital muscular dystrophies (NGS Panel for 31 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-5 weeks
price: contact lab
CardioNext -Inherited Cadiovascular Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 4-5 weeks
price: contact lab
CMNext - Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 6-8 weeks
price: contact lab
MyoGene Panel (43 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 6-8 weeks
price: contact lab
Muscular Dystrophy (LGMD/EDMD) Panel (25 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 8-9 weeks
price: contact lab
Neuromuscular Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 3-5 weeks
price: contact lab
Emery-Dreifuss Muscular Dystrophy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Cardiomyopathy in the Context of Neuromuscular Disease
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Childhood: Muscle Weakness with High CK (>6x) / Congenital Muscular Dystrophies / Alpha-Dystroglycanopathies
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Muscle Disease with Contractures and/or Rigid Spine
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Cardiomyopathies, Comprehensive Diagnostics
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Muscle Weakness (Myopathy, Muscular Dystrophy)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
X-Linked Mental Retardation
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Syndromic Disorders
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
EMD
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Cardiomyopathy, Dilated Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Muscular Dystrophies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Cardiomyopathy Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 4-6 weeks
price: contact lab
Dilated Cardiomyopathy (DCM) Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
Dilated Cardiomyopathy: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Dilated Cardiomyopathy: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Emery-Dreifuss Muscular Dystophy, X-linked: EMD Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Emery-Dreifuss Muscular Dystophy, X-linked: EMD Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Expanded Neuromuscular Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Neuromuscular Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Neuromuscular Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Limb-Girdle Muscular Dystrophy: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Limb-Girdle Muscular Dystrophy: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Cardiomyopathy: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Cardiomyopathy: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Comprehensive Cardiovascular: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Comprehensive Cardiovascular: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
X-Linked Emery-Dreifuss Muscular Dystrophy
method(s): ◦ Sequencing, Capillary (Sanger) 
GMDL Genica - Sofia, Bulgaria
TAT: 8-10 weeks
price: contact lab
Muscle disorders panel
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
Familial Cardiomyopathy Full Gene Sequencing Panel (CardioGeneSeq)
method(s): ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
TAT: 6-8 weeks
price: contact lab
Neuromuscular Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Emery-Dreifuss Muscular Dystrophy, Panel Massive Sequencing (NGS) 6 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 8-10 weeks
price: contact lab
Atrioventricular (AV) Block Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
TAT: 8-10 weeks
price: contact lab
Dilated Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
TAT: 8-10 weeks
price: contact lab
DCM and DMD related Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
TAT: 8-10 weeks
price: contact lab
Comprehensive Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Heart Institute Diagnostic Lab - Cincinnati, OH, USA
TAT: 10 weeks
price: contact lab
Dilated Cardiomyopathy Test
method(s): ◦ Sequencing, Next Gen 
Children's Hospital of Eastern Ontario, Genetics Diagnostic Laboratory - Ottawa, Canada
TAT: 10 weeks
price: contact lab
Pan Cardiomyopathy Panel Test
method(s): ◦ Sequencing, Next Gen 
Children's Hospital of Eastern Ontario, Genetics Diagnostic Laboratory - Ottawa, Canada
TAT: 2-4 weeks
price: contact lab
Comprehensive Cardiomyopathy (NextGen Sequencing Panel and Copy Number Analysis; 131 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Muscular Dystrophy/Myopathy (NextGen Sequencing Panel and Copy Number Analysis; 184 Genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2 weeks
price: contact lab
EMD Full Gene Sequencing Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Fetal Akinesia, Arthrogryposis, or Contractures (NextGen Sequencing Panel and Copy Number Analysis; 153 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Hereditary Cardiac Arrhythmia (NextGen Sequencing Panel and Copy Number Analysis; 57 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Cardiology Genetic Panel (Full), Panel Massive Sequencing (NGS) 110 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-3 days
price: contact lab
Dilated Cardiomyopathy NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
EMD
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Hypertrophic Cardiomyopathy NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Muscular Dystrophies NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Neuromuscular NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: contact lab
Pan-Cardio NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 274 (Pan-Ethnic Extended Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 4-6 weeks
price: $3,000.00
Comprehensive Cardiomyopathy Cardiac Arrhythmia Exome Panel
method(s): ◦ Sequencing, Next Gen 
UW Medicine Center for Precision Diagnostics Northwest Clinical Genomics Laboratory - Seattle, WA, USA
TAT: 4-6 weeks
price: $2,500.00
Cardiomyopathy Exome Panel
method(s): ◦ Sequencing, Next Gen 
UW Medicine Center for Precision Diagnostics Northwest Clinical Genomics Laboratory - Seattle, WA, USA
TAT: 4-6 weeks
price: $2,500.00
Cardiac Arrhythmia Exome Panel
method(s): ◦ Sequencing, Next Gen 
UW Medicine Center for Precision Diagnostics Northwest Clinical Genomics Laboratory - Seattle, WA, USA
TAT: 3-4 weeks
price: contact lab
Pan Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Heart Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Core Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Dilated Cardiomyopathy (DCM) Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Emery-Dreifuss Muscular Dystrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Osteogenesis Imperfecta Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Muscular Dystrophy / Myopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: $690.00
Emery-Dreifuss Muscular Dystrophy (EDMD1) via the EMD Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Congenital Muscular Dystrophy Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Dilated Cardiomyopathy Deletion/Duplication panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $550.00
Emery-Dreifuss Muscular Dystrophy (EDMD1) via the EMD Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,140.00
Congenital Muscular Dystrophy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,040.00
Dilated Cardiomyopathy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-5 weeks
price: contact lab
CustomNext-Cardio
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Emery-Dreifuss muscular dystrophy (Emery-Dreifuss Muskeldystrophie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Muscle Polyneuropathies, Panel Massive Sequencing (NGS) 112 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-5 weeks
price: $2,490.00
Comprehensive Neuromuscular Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,990.00
Comprehensive Neuromuscular Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Emery-Dreifuss muscular dystrophy type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Dilated Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Cardiomyopathy Comprehensive Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Arrhythmogenic Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Emery-Dreifuss Muscular Dystrophy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Arrhythmia Comprehensive Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Comprehensive Neuromuscular Disorders Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Comprehensive Muscular Dystrophy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
Cardiac Conduction System Related Disorders, Panel Massive Sequencing (NGS) 21 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 7-8 weeks
price: contact lab
Cardiomyopathy dilated panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany