LMNA

OMIMHGNC

Synonym(s): HGPS, LMN1, CMD1A, LGMD1B, PRO1, LMNL1

Locus: 1q22

Protein: Lamin A/C transcript variant 1

 

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
Turkey
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: 4-6 weeks
price: contact lab
Atrial Fibrillation NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Autosomal Dominant Enery-Dreifuss Muscular Dystrophy Type 2 , Sequencing LMNA Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 3-5 weeks
price: $1,390.00
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: 4-6 weeks
price: $2,130.00
Autosomal Dominant Limb Girdle Muscular Dystrophy Sanger Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
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
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Type 3, Sequencing LMNA Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
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
TAT: 8-10 weeks
price: contact lab
Cardiomyopathy (Dilated) Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
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
Charcot-Marie-Tooth Disease Type 2B1, Sequencing LMNA Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
Charcot-Marie-Tooth Neuropathy Type 2B1
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
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
Comprehensive Lipodystrophy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
Congenital Muscular Dystrophy Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 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
Congenital Muscular Dystrophy Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 8-10 weeks
price: contact lab
Congenital Muscular Dystrophy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 12-13 weeks
price: contact lab
Congenital 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
Congenital Myopathy with Prominent Contractures 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
Congenital Myopathy with Prominent Contractures Seq Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 2-4 weeks
price: contact lab
Core Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 4-6 weeks
price: contact lab
DCM with Cardiac Conduction Disorder (DCM-CCD) Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Transgenomic - New Haven - New Haven, CT, USA
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
Dilated Cardiomyopathy
method(s): ◦ Sequencing, Capillary (Sanger) 
Laboratories AGEL - Novy Jicin, Czech Republic
TAT: 4-6 weeks
price: contact lab
Dilated Cardiomyopathy (DCM) Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Transgenomic - New Haven - New Haven, CT, USA
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
Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 28 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
Dilated Cardiomyopathy, Sequencing LMNA Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
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: 2-4 weeks
price: contact lab
EDMD Panel
method(s): ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
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
Familial Partial Lipodystrophy Type 2
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Familial Partial Lipodystrophy Type Dunnigan, Sequencing LMNA Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
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: >20 weeks
price: contact lab
Gene panel testing for Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
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
Hereditary Neuropathies NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 10 weeks
price: contact lab
Hereditary Neuropathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 3-4 weeks
price: $610.00
Hutchinson-Gilford Progeria Syndrome (HGPS) via the LMNA 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
Hutchinson-Gilford Progeria Syndrome (HGPS) via the LMNA 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: 10 weeks
price: contact lab
iGene Cardiac (Risk Prediction)
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
TAT: 10 weeks
price: $5,500.00
iGene Comprehensive (Cancer, Cardiac, Drug Sensitivity)
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
TAT: 3-4 weeks
price: $610.00
Laminopathies via the LMNA 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
Laminopathies via the LMNA 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: 3-5 weeks
price: $1,890.00
Left Ventricular Noncompaction (LVNC) 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: $2,290.00
Left Ventricular Noncompaction (LVNC) 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: contact lab
Left Ventricular Noncompaction Cardiomyopathy (LVNC)
method(s): ◦ Sequencing, Capillary (Sanger) 
Transgenomic - New Haven - New Haven, CT, USA
Lethal Restrictive Dermopathy, LMNA-Related
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
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: 4-5 weeks
price: contact lab
Limb-Girdle Muscular Dystrophy (LGMD) Type 1B: LMNA Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Limb-Girdle Muscular Dystrophy (LGMD) Type 1B: LMNA Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, 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 1B
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Limb-Girdle Muscular Dystrophy Type 1B, Sequencing LMNA Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
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
Lipodystrophy NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4 weeks
price: contact lab
LMNA deletion/duplication
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 2-3 weeks
price: contact lab
LMNA Gene Sequence Analysis (Emery-Dreifuss/Limb Girdle muscular dystrophy)
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 5-6 weeks
price: contact lab
LMNA Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 3-4 weeks
price: contact lab
LMNA Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 4-6 weeks
price: contact lab
LMNA sequencing (Lamin A/C)
method(s): ◦ Sequencing, Capillary (Sanger) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
LMNA-Related Dilated Cardiomyopathy
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
LMNA-Related Muscle Diseases
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Mandibuloacral Dysplasia
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
TAT: 4-6 weeks
price: contact lab
Muscular Dystrophies NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
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: 8-10 weeks
price: contact lab
Neuropathy Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
NGS of 15 genes: COL 6A1, COL6A2, COL6A3, FKRP, FKTN, ITGA7, LARGE, LAM A2, LMNA, PABPN1, PLEC, POMGNT1, POMT1, POMT2, SEP
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
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 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): ◦ 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 3 genes: CAV3, LMNA, MYOT.
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: AARS, ARHGEF10, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GDAP1L1, GJB1, HK1, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PRX, PMP22, PRPS1, RAB7A, SBF2, SH3TC2, SPTLC1, TRPV4, YARS.
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 5 genes: EMD, FHL1, LMNA, SYNE1, SYNE2.
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 5 genes: EMD, FHL1, LMNA, SYNE1, SYNE2.
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 5 genes: GDAP1, GDAP1L1, LMNA, MED25, NEFL.
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 7 genes: CHKB, ITGA7, LAMA2, LMNA, PABPN1, PLEC, SEPN1.
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: ANO5 , DMD, DYSF, EMD, FHL1, LMNA, SYNE1, SYNE2.
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: 12-13 weeks
price: contact lab
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
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: 8-10 weeks
price: contact lab
Partial Lipodystrophy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 12-13 weeks
price: contact lab
PCCD, Progressive Cardiac Conduction Disease panel
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Aarhus University Hospital, Department of Molecular Medicine - Aarhus, Denmark
Progeroid Laminopathies
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
TAT: 7-8 weeks
price: contact lab
Sanger sequencing of the LMNA gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 12-13 weeks
price: contact lab
Skeletal Dysplasia: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Sudden Death Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA