Mandibuloacral Dysplasia With Type A Lipodystrophy; Mada

Description

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Mandibuloacral Dysplasia With Type A Lipodystrophy; Mada

  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Ptosis
  • Cataract
  • Muscle weakness
  • Myopathy
And another 83 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Mandibuloacral Dysplasia With Type A Lipodystrophy; Mada Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Metaphyseal anadysplasia 2 (sequence analysis of MMP9 gene).

By CGC Genetics in Portugal.

MMP9
Specificity
100 %
Genes
50 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics in Portugal.

MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1 , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
50 %
Metaphyseal anadysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

MMP9, MMP13
Specificity
50 %
Genes
50 %
Metaphyseal anadysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

MMP9, MMP13
Specificity
50 %
Genes
50 %
Metaphyseal anadysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MMP9, MMP13
Specificity
50 %
Genes
50 %
Skeletal dysplasia extended NGS panel.

By Connective Tissue Gene Tests in United States.

MMP9, MMP13, DDR2, SLC35D1, LIFR, FLNB, ARSE, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, PEX7, SBDS, RMRP, COL10A1
Specificity
6 %
Genes
50 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Skeletal dysplasia core & extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Skeletal dysplasia extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MMP9, MMP13, DDR2, SLC35D1, LIFR, FLNB, ARSE, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, PEX7, SBDS, RMRP, COL10A1
Specificity
6 %
Genes
50 %
Skeletal dysplasia core & extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel.

By Connective Tissue Gene Tests in United States.

RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Skeletal dysplasia core & extended NGS panel.

By Connective Tissue Gene Tests in United States.

MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Skeletal dysplasia extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

MMP9, MMP13, DDR2, SLC35D1, LIFR, FLNB, ARSE, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, PEX7, SBDS, RMRP, COL10A1
Specificity
6 %
Genes
50 %
Metaphyseal dysplasia panel.

By Centogene AG - the Rare Disease Company in Germany.

MMP9, MMP13, NKX3-2, FLNA, CDKN1C, RUNX2, RMRP, ANKH
Specificity
13 %
Genes
50 %
Metaphyseal anadysplasia type 2.

By Centogene AG - the Rare Disease Company in Germany.

MMP9
Specificity
100 %
Genes
50 %
Metaphyseal anadysplasia type 2.

By Centogene AG - the Rare Disease Company in Germany.

MMP9
Specificity
100 %
Genes
50 %
Metaphyseal dysplasia Panel.

By CeGaT GmbH in Germany.

MMP9, MMP13, PTH1R, SBDS, RUNX2, RMRP, COL10A1, FGFR3
Specificity
13 %
Genes
50 %
Skeletal dysplasias.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
50 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 143 more genes
Specificity
2 %
Genes
100 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
50 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 141 more genes
Specificity
2 %
Genes
100 %
MMP9.

By Fulgent Genetics Fulgent Genetics in United States.

MMP9
Specificity
100 %
Genes
50 %
Metaphyseal Dysplasia Panel.

By Blueprint Genetics in Finland.

MMP9, MMP13, PTH1R, FLNA, SBDS, CDKN1C, RUNX2, RMRP, COL10A1, FGFR3, ANKH
Specificity
10 %
Genes
50 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ACAN, PAPSS2, DVL1, XYLT1, IHH, NPR2, MMP9, INPPL1, MATN3, TRAPPC2, GDF5, ADAMTS10, TRIP11, LIFR, FLNB, ACP5, DLL3, CHST3, WISP3, SLC34A3 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
50 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Metaphyseal Dysplasia Related Disorders , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

MMP9, MMP13, PTH1R, RMRP, COL10A1
Specificity
20 %
Genes
50 %
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes.

By Reference Laboratory Genetics in Spain.

MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
CMT Advanced Evaluation - Dominant, Axonal.

By Athena Diagnostics Inc in United States.

LMNA, DNM2, YARS, HSPB1, RAB7A, HSPB8, NEFL, MPZ, TRPV4, MFN2, GARS
Specificity
10 %
Genes
50 %
CMT Advanced Evaluation - Comprehensive.

By Athena Diagnostics Inc in United States.

GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
CMT Advanced Evaluation - Axonal.

By Athena Diagnostics Inc in United States.

GJB1, LMNA, DNM2, YARS, HSPB1, RAB7A, HSPB8, NEFL, MPZ, TRPV4, GDAP1, MFN2, GARS
Specificity
8 %
Genes
50 %
CMT Advanced Evaluation - Recessive.

By Athena Diagnostics Inc in United States.

LMNA, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1
Specificity
12 %
Genes
50 %
LMNA (CMT2B1) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

LMNA
Specificity
100 %
Genes
50 %
Lamin A/C (LMNA) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

LMNA
Specificity
100 %
Genes
50 %
CMT Advanced Evaluation - Nonprevalent.

By Athena Diagnostics Inc in United States.

GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

EMD, SYNE2, TMEM43, SYNE1, FHL1, LMNA
Specificity
17 %
Genes
50 %
Limb Girdle Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc in United States.

SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc in United States.

SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, SYNE2, TMEM43, SYNE1, CCDC78, FHL1, MYOT, ANO5, DES, TTN , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
50 %
Congenital Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, TCAP, POMT1, POMT2, SELENON, FHL1, FKRP, LMNA , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
CMT Advanced Evaluation - Nonprevalent Axonal.

By Athena Diagnostics Inc in United States.

GJB1, LMNA, DNM2, YARS, HSPB1, RAB7A, HSPB8, NEFL, TRPV4, GDAP1, GARS
Specificity
10 %
Genes
50 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, MME, PRPS1, IGHMBP2, DYNC1H1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GMPPB, LMOD3, SPEG, STAC3, POMK, TOR1AIP1, SLC5A7, HNRNPDL, MTMR14, TNNI2, TNPO3, MYF6, LIMS2, KLHL41, GLE1, COL12A1, AMPD1, FBXL4, GAN, HINT1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
50 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
50 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MYH8, ERCC6, ERBB3, PIP5K1C, SCARF2, PSMB8, RIPK4, CHMP1A, ECEL1, ZMPSTE24, PITX1, MYBPC1, ZBTB42, CNTNAP1, ADCY6, ADGRG6, GLDN, SLC18A3, PIEZO2, MYH3 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Lamin A/C - LMNA Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

LMNA
Specificity
100 %
Genes
50 %
Lamin A/C - LMNA Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

LMNA
Specificity
100 %
Genes
50 %
Dilated cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

CTF1, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Dilated cardiomyopathy - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

CTF1, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Pan-cardiomyopathy panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
50 %
Dilated Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TMPO, TXNRD2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Arrhythmogenic Right Ventricular Cardiomyopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, MYBPC3, MYH7, TTN, LMNA, DSP
Specificity
9 %
Genes
50 %
Charcot-Marie-Tooth Syndrome.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MED25, AARS, LRSAM1, DNAJB2, PRPS1, IGHMBP2, DYNC1H1, DCTN1, BSCL2, SPTLC1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
50 %
Congenital Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, RYR1, SELENON, FKRP, LMNA, POMGNT1, FKTN, DPM1, DPM3
Specificity
5 %
Genes
50 %
Limb-Girdle Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

COL6A1, COL6A3, COL6A2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, EMD, SYNE2, SYNE1, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Non-Compaction Arrhythmogenic Left Ventricular Cardiomyopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

VCL, DTNA, MYL3, ACTN2, TNNT2, TPM1, ACTC1, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
9 %
Genes
50 %
Arrhymogenic Right Ventricular Cardiomyopathy Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, TMEM43, LDB3, DES, TTN, LMNA, DSP
Specificity
8 %
Genes
50 %
LMNA Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

LMNA
Specificity
100 %
Genes
50 %
Atrioventricular Block Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

NKX2-5, TRPM4, SCN5A, SCN1B, EMD, DES, LMNA
Specificity
15 %
Genes
50 %
Left Ventricular Noncompaction (13 genes).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

VCL, MYL3, MYL2, ACTN2, TNNT2, TPM1, ACTC1, MYBPC3, LDB3, MYH7, DES, LMNA, TAZ
Specificity
8 %
Genes
50 %
Dilated Cardiomyopathy Panel (30 genes).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Comprehensive Cardiomyopathy Panel (37 genes).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

VCL, MYL3, MYL2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
DCM and DMD related Cardiomyopathy.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Atrial Fibrillation Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GJA5, NPPA, NUP155, KCNA5, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCND3, KCNJ2, LMNA
Specificity
7 %
Genes
50 %
Partial Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, LMNA, PPARG
Specificity
8 %
Genes
50 %
Comprehensive Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
50 %
Comprehensive Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
50 %
Partial Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, LMNA, PPARG
Specificity
8 %
Genes
50 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
50 %
Premature Ovarian Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, HFM1, MCM8, NR5A1, LMNA, FOXL2
Specificity
10 %
Genes
50 %
LMNA deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

LMNA
Specificity
100 %
Genes
50 %
LMNA sequencing.

By Genetic Services Laboratory University of Chicago in United States.

LMNA
Specificity
100 %
Genes
50 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALG14, LRP4, PREPL, SYT2, HACD1, COL13A1, ORAI1, STIM1, GMPPB, LMOD3, SPEG, STAC3, POMK, HNRNPDL, TNPO3, MYF6, LIMS2, KLHL41, COL12A1, MYL2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
50 %
Congenital Muscular Dystrophy Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

POMK, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, POMT1, POMT2, DAG1, TRAPPC11, SYNE1, RYR1, SELENON , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Congenital Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

POMK, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, POMT1, POMT2, DAG1, TRAPPC11, SYNE1, RYR1, SELENON , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis.

By Genetic Services Laboratory University of Chicago in United States.

COL6A1, COL6A3, COL6A2, LAMA2, EMD, SYNE2, TMEM43, SYNE1, KLHL40, RYR1, SELENON, MYH7, LMNA
Specificity
8 %
Genes
50 %
Congenital Myopathy with Prominent Contractures Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

COL6A1, COL6A3, COL6A2, LAMA2, EMD, SYNE2, TMEM43, SYNE1, KLHL40, RYR1, SELENON, MYH7, LMNA
Specificity
8 %
Genes
50 %
Limb-Girdle Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GMPPB, POMK, HNRNPDL, TNPO3, LIMS2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

GMPPB, POMK, HNRNPDL, TNPO3, LIMS2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Premature Ovarian Failure Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, HFM1, MCM8, NR5A1, LMNA, FOXL2
Specificity
10 %
Genes
50 %
Congenital Myopathy with Fiber-Type Disproportion Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TPM2, ACTA1, TPM3, RYR1, SELENON, MYH7, LMNA
Specificity
15 %
Genes
50 %
Emery-Dreifuss Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

EMD, SYNE2, TMEM43, SYNE1, FHL1, LMNA
Specificity
17 %
Genes
50 %
Targeted CM panel.

By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS in Italy.

DSC2, TNNT2, TPM1, JUP, DSG2, NEXN, TNNI3, PKP2, SCN5A, TMEM43, MYBPC3, LDB3, MYH7, LMNA, DSP
Specificity
7 %
Genes
50 %
Cardiac Arrhythmia Gene Panel.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

SCN10A, MYL2, DSC2, RBM20, TNNT2, TPM1, DSG2, MYH6, TNNI3, KCNA5, CASQ2, KCNE2, RYR2, PKP2, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Familial Partial Lipodystrophy Type 2.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

LMNA
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 2B1.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

LMNA
Specificity
100 %
Genes
50 %
Mandibuloacral Dysplasia.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

ZMPSTE24, LMNA
Specificity
50 %
Genes
50 %
LMNA-Related Dilated Cardiomyopathy.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

LMNA
Specificity
100 %
Genes
50 %
Lethal Restrictive Dermopathy, LMNA-Related.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

LMNA
Specificity
100 %
Genes
50 %
LMNA.

By Institute for Human Genetics University Clinic Freiburg in Germany.

LMNA
Specificity
100 %
Genes
50 %
Charcot Marie Tooth Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

MED25, AARS, LRSAM1, DNAJB2, PDK3, MARS, PRPS1, IGHMBP2, DYNC1H1, SPTLC1, GJB1, LMNA, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

CAVIN4, CHRM2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
Pan Cardiomyopathy Panel (62 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

CAVIN4, CHRM2, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
50 %
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
50 %
LMNA-Related Disorders (LMNA) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

LMNA
Specificity
100 %
Genes
50 %
LMNA-Related Disorders (LMNA) Del/Dup.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

LMNA
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
50 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
50 %
Comprehensive Cardiomyopathy Panel.

By GeneDx in United States.

MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, MT-ND5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
50 %
DCM/LVNC Sequencing Panel.

By GeneDx in United States.

MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-ND5, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
ARVCNext.

By Ambry Genetics in United States.

DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, LMNA, DSP
Specificity
12 %
Genes
50 %
CardioNext with TTN.

By Ambry Genetics in United States.

TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
50 %
CMNext with TTN.

By Ambry Genetics in United States.

TBX20, TMPO, TXNRD2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
DCMNext with TTN.

By Ambry Genetics in United States.

TBX20, TMPO, TXNRD2, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, ABCC9 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
RhythmNext.

By Ambry Genetics in United States.

TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
RhythmFirst reflex RhythmNext.

By Ambry Genetics in United States.

TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
LVNCNext.

By Ambry Genetics in United States.

TNNT2, TPM1, ACTC1, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
13 %
Genes
50 %
LMNA mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

LMNA
Specificity
100 %
Genes
50 %
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CALR3, MIB1, ALPK3, CTNNA3, FHL2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
50 %
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

CALM3, ASPH, KCNE5, SCN10A, GJA5, NPPA, DPP6, TNNT2, RANGRF, PLN, PRKAG2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
50 %
Detection of the c.892C>T mutation in exon 5 of the LMNA gene.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.

LMNA
Specificity
100 %
Genes
50 %
LMNA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LMNA
Specificity
100 %
Genes
50 %
LMNA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LMNA
Specificity
100 %
Genes
50 %
LMNA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LMNA
Specificity
100 %
Genes
50 %
LMNA, MYBPC3, MYH7, SCN5A, TNNI3, TNNT2. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TNNT2, TNNI3, SCN5A, MYBPC3, MYH7, LMNA
Specificity
17 %
Genes
50 %
LMNA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

LMNA
Specificity
100 %
Genes
50 %
ACTC1, DTNA, LDB3, LMNA, MYH7, TAZ, TNNT2. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DTNA, TNNT2, ACTC1, LDB3, MYH7, LMNA, TAZ
Specificity
15 %
Genes
50 %
Lethal Restrictive Dermopathy, LMNA-Related.

By CGC Genetics in Portugal.

LMNA
Specificity
100 %
Genes
50 %
Hutchinson-Gilford progeria (sequence analysis of LMNA gene).

By CGC Genetics in Portugal.

LMNA
Specificity
100 %
Genes
50 %
Mandibuloacral Dysplasia.

By CGC Genetics in Portugal.

LMNA
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth disease type 2B1 (CMT2B1, sequence analysis of LMNA gene).

By CGC Genetics in Portugal.

LMNA
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 2B1.

By CGC Genetics in Portugal.

LMNA
Specificity
100 %
Genes
50 %
Emery-Dreifuss muscular dystrophy (sequence analysis of LMNA gene).

By CGC Genetics in Portugal.

LMNA
Specificity
100 %
Genes
50 %
Limb-girdle muscular dystrophy type 1B (LGMD1B, sequence analysis of LMNA gene).

By CGC Genetics in Portugal.

LMNA
Specificity
100 %
Genes
50 %
Familial Partial Lipodystrophy Type 2.

By CGC Genetics in Portugal.

LMNA
Specificity
100 %
Genes
50 %
Familial dilated cardiomyopathy (sequence analysis of LMNA, exons 13, 16 and 23 of MYH7 gene and exons 9, 10, 13 and 15 of TNNT2 gene).

By CGC Genetics in Portugal.

TNNT2, MYH7, LMNA
Specificity
34 %
Genes
50 %
Left ventricular noncompaction (LVNC, NGS panel for 13 genes).

By CGC Genetics in Portugal.

DTNA, CSRP3, TNNT2, TPM1, PLN, ACTC1, SGCD, TCAP, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
8 %
Genes
50 %
Dilated cardiomyopathy (CMD, NGS panel for 22 genes).

By CGC Genetics in Portugal.

VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, SGCD, TCAP, MYBPC3, LDB3, MYH7, DES , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Dilated cardiomyopathy (CMD, NGS panel for 10 genes).

By CGC Genetics in Portugal.

CSRP3, TNNT2, TPM1, PLN, ACTC1, SGCD, TCAP, MYBPC3, MYH7, LMNA
Specificity
10 %
Genes
50 %
Familial dilated cardiomyopathy (deletion/duplication analysis of LMNA gene).

By CGC Genetics in Portugal.

LMNA
Specificity
100 %
Genes
50 %
LMNA gene (deletion/duplication analysis).

By CGC Genetics in Portugal.

LMNA
Specificity
100 %
Genes
50 %
Familial dilated cardiomyopathy (deletion/duplication analysis of LMNA gene).

By CGC Genetics in Portugal.

LMNA
Specificity
100 %
Genes
50 %
Atypical hemolytic uremic syndrome (NGS panel for 14 genes).

By CGC Genetics in Portugal.

CFHR4, ADAMTS13, DGKE, CFHR3, CFHR1, THBD, C3, CD46, CFHR5, CFH, CFI, CFB, LMNA, MMACHC
Specificity
8 %
Genes
50 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics in Portugal.

DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, DST, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
50 %
Limb-girdle muscular dystrophies (NGS panel for 26 genes).

By CGC Genetics in Portugal.

GMPPB, HNRNPDL, TNPO3, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Sequence analysis of LMNA gene (lamin A/C).

By CGC Genetics in Portugal.

LMNA
Specificity
100 %
Genes
50 %
Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes).

By CGC Genetics in Portugal.

TNNI3K, ALG10, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Charcot-Marie-Tooth disease (NGS panel for 43 genes).

By CGC Genetics in Portugal.

HOXD10, MED25, AARS, LRSAM1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, IGHMBP2, DYNC1H1, INF2, GJB1, LMNA, DNM2, YARS, HSPB1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes).

By CGC Genetics in Portugal.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Congenital muscular dystrophies (NGS panel for 31 genes).

By CGC Genetics in Portugal.

GMPPB, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, DPM2, LAMA2, SMCHD1, ISPD, TCAP, POMT1, POMT2, EMD, SYNE2, TMEM43, SYNE1, SELENON, FHL1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PCYT1A, AGPAT2, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, AKT2, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
50 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, WRN, KCNJ6, ERCC8, POLD1, ERCC6, ZMPSTE24, CAV1, LMNA, BLM, FBN1
Specificity
9 %
Genes
50 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, PCYT1A, WRN, AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ERCC8, AKT2, POLD1, ERCC6, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, WRN, KCNJ6, ERCC8, POLD1, ERCC6, ZMPSTE24, CAV1, LMNA, BLM, FBN1
Specificity
9 %
Genes
50 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PCYT1A, AGPAT2, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, AKT2, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
50 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, PCYT1A, WRN, AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ERCC8, AKT2, POLD1, ERCC6, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Mandibuloacral Dysplasia.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

LMNA
Specificity
100 %
Genes
50 %
LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

LMNA
Specificity
100 %
Genes
50 %
Progeroid Laminopathies.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

LMNA
Specificity
100 %
Genes
50 %
Familial Partial Lipodystrophy Type 2.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

LMNA
Specificity
100 %
Genes
50 %
LMNA-Related Dilated Cardiomyopathy.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

LMNA
Specificity
100 %
Genes
50 %
Atypical Werner Syndrome.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

LMNA
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 2B1.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

LMNA
Specificity
100 %
Genes
50 %
LMNA-Related Muscle Diseases.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

LMNA
Specificity
100 %
Genes
50 %
LMNA full gene sequencing.

By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics in United States.

LMNA
Specificity
100 %
Genes
50 %
LMNA-related disorders (LMNA) sequencing.

By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics in United States.

LMNA
Specificity
100 %
Genes
50 %
Lipodystrophy, familial partial, 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

LMNA
Specificity
100 %
Genes
50 %
Test for Familial Partial Lipodystrophy Type 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

LMNA
Specificity
100 %
Genes
50 %
Muscular dystrophy, congenital.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

LMNA
Specificity
100 %
Genes
50 %
Familial Partial Lipodystrophy Type 2.

By Exeter Molecular Genetics Laboratory in United Kingdom.

LMNA
Specificity
100 %
Genes
50 %
LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal.

By Exeter Molecular Genetics Laboratory in United Kingdom.

LMNA
Specificity
100 %
Genes
50 %
Congenital Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

MYO18B, MICU1, LMOD3, STAC3, KLHL41, COL12A1, COL6A1, COL6A3, COL6A2, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
50 %
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CTDP1, MED25, AARS, LRSAM1, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, PRPS1, IGHMBP2, DYNC1H1, KIF5A, INF2, GJB1, LMNA , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MED25, AARS, LRSAM1, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, PRPS1, IGHMBP2, DYNC1H1, KIF5A, INF2, LMNA, DNM2, HSPB1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Left Ventricular Noncompaction (LVNC) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VCL, DTNA, TNNT2, ACTC1, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
12 %
Genes
50 %
Congenital Muscular Dystrophy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

GMPPB, POMK, COL12A1, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DAG1, EMD , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Hutchinson-Gilford Progeria Syndrome (HGPS) via the LMNA Gene.

By PreventionGenetics PreventionGenetics in United States.

LMNA
Specificity
100 %
Genes
50 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
50 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Dilated Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TMPO, FHL2, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
50 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CALR3, MIB1, CAVIN4, TMPO, FHL2, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
50 %
Laminopathies via the LMNA Gene.

By PreventionGenetics PreventionGenetics in United States.

LMNA
Specificity
100 %
Genes
50 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NGF, RETREG1, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, LAS1L , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
50 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

MYO18B, HNRNPA1, HNRNPA2B1, ALG14, PREPL, SYT2, COL13A1, MICU1, STIM1, ECEL1, MYH3, TNNT3, GMPPB, LMOD3, STAC3, POMK, TOR1AIP1, HNRNPDL, TNNI2, TNPO3 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
50 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CBX2, AKR1C4, STAG3, PRLR, PADI6, SOHLH1, DMRT2, DMRT1, SYCE1, CCDC141, AXL, MCM9, ZP1, NUP107, HS6ST1, SPRY4, DUSP6, FLRT3, NR3C1, KISS1 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
50 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
50 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
50 %
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

STAG3, SOHLH1, MCM9, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, HFM1, MCM8, CYP19A1, NR5A1, CLPP, EIF2B4, EIF2B2, LMNA, EIF2B5, AIRE, CYP17A1, GALT , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Atrioventricular block Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

NKX2-5, TRPM4, SCN5A, SCN1B, EMD, DES, LMNA
Specificity
15 %
Genes
50 %
Congenital contracture syndrome extended NGS panel.

By Connective Tissue Gene Tests in United States.

LGI4, VIPAS39, VPS33B, MYH8, ERBB3, PIP5K1C, ECEL1, ZMPSTE24, MYBPC1, ZBTB42, CNTNAP1, ADCY6, ADGRG6, GLDN, PIEZO2, MYH3, TNNT3, NEK9, TNNI2, GLE1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Congenital contracture syndrome extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LGI4, VIPAS39, VPS33B, MYH8, ERBB3, PIP5K1C, ECEL1, ZMPSTE24, MYBPC1, ZBTB42, CNTNAP1, ADCY6, ADGRG6, GLDN, PIEZO2, MYH3, TNNT3, NEK9, TNNI2, GLE1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Congenital contracture syndrome extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

LGI4, VIPAS39, VPS33B, MYH8, ERBB3, PIP5K1C, ECEL1, ZMPSTE24, MYBPC1, ZBTB42, CNTNAP1, ADCY6, ADGRG6, GLDN, PIEZO2, MYH3, TNNT3, NEK9, TNNI2, GLE1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Charcot-Marie-Tooth disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ATP1A1, MED25, AARS, LRSAM1, TFG, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, DYNC1H1, BSCL2, GJB1, LMNA, DNM2, YARS, HSPB1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Charcot-Marie-Tooth disease NGS panel.

By Connective Tissue Gene Tests in United States.

ATP1A1, MED25, AARS, LRSAM1, TFG, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, DYNC1H1, BSCL2, GJB1, LMNA, DNM2, YARS, HSPB1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Charcot-Marie-Tooth disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ATP1A1, MED25, AARS, LRSAM1, TFG, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, DYNC1H1, BSCL2, GJB1, LMNA, DNM2, YARS, HSPB1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Lethal congenital contracture syndrome and related disorders Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

LGI4, VIPAS39, VPS33B, ERBB3, PIP5K1C, ZMPSTE24, MYBPC1, ZBTB42, CNTNAP1, ADCY6, ADGRG6, GLDN, NEK9, GLE1, CHRNG, CHRND, CHRNA1, MUSK, LMNA, DNM2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Lethal congenital contracture syndrome and related disorders NGS Panel.

By Connective Tissue Gene Tests in United States.

LGI4, VIPAS39, VPS33B, ERBB3, PIP5K1C, ZMPSTE24, MYBPC1, ZBTB42, CNTNAP1, ADCY6, ADGRG6, GLDN, NEK9, GLE1, CHRNG, CHRND, CHRNA1, MUSK, LMNA, DNM2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Limb girdle muscular dystrophy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, LARGE1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Limb girdle muscular dystrophy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, LARGE1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Limb girdle muscular dystrophy NGS panel.

By Connective Tissue Gene Tests in United States.

GMPPB, POMK, TOR1AIP1, HNRNPDL, TNPO3, LIMS2, LARGE1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, FHL1, MYOT, ANO5 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel.

By Connective Tissue Gene Tests in United States.

LGI4, VIPAS39, VPS33B, ERBB3, PIP5K1C, ZMPSTE24, MYBPC1, ZBTB42, CNTNAP1, ADCY6, ADGRG6, GLDN, NEK9, GLE1, CHRNG, CHRND, CHRNA1, MUSK, LMNA, DNM2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Restrictive dermopathy, lethal NGS panel.

By Connective Tissue Gene Tests in United States.

ZMPSTE24, LMNA
Specificity
50 %
Genes
50 %
Restrictive dermopathy, lethal Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ZMPSTE24, LMNA
Specificity
50 %
Genes
50 %
Progeroid syndromes and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC25A24, BANF1, ERCC5, PDGFRB, WRN, AGPAT2, ERCC8, POLD1, B3GALT6, ERCC4, ERCC6, ZMPSTE24, ERCC3, ERCC2, BSCL2, LMNA, ALDH18A1, FBN1, PYCR1, B4GALT7 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Progeroid syndromes and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC25A24, BANF1, ERCC5, PDGFRB, WRN, AGPAT2, ERCC8, POLD1, B3GALT6, ERCC4, ERCC6, ZMPSTE24, ERCC3, ERCC2, BSCL2, LMNA, ALDH18A1, FBN1, PYCR1, B4GALT7 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Progeroid syndromes and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC25A24, BANF1, ERCC5, PDGFRB, WRN, AGPAT2, ERCC8, POLD1, B3GALT6, ERCC4, ERCC6, ZMPSTE24, ERCC3, ERCC2, BSCL2, LMNA, ALDH18A1, FBN1, PYCR1, B4GALT7 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Restrictive dermopathy, lethal Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ZMPSTE24, LMNA
Specificity
50 %
Genes
50 %
Lipodystrophy.

By Institute of Human Genetics Cologne University in Germany.

LMNA, PPARG
Specificity
50 %
Genes
50 %
Lipodystrophy - panel diagnostics.

By Institute of Human Genetics Cologne University in Germany.

PLIN1, CIDEC, AKT2, LMNA, PPARG
Specificity
20 %
Genes
50 %
LMNA-related Muscular dystrophy.

By Institute of Human Genetics Cologne University in Germany.

LMNA
Specificity
100 %
Genes
50 %
Histological Myofibrillar Myopathy.

By MGZ Medical Genetics Center in Germany.

PLEC, FHL1, BAG3, LDB3, MYOT, FLNC, DES, TTN, LMNA, VCP, CRYAB, GNE
Specificity
9 %
Genes
50 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
Muscular Dystrophy: Limb Girdle - autosomal dominant.

By MGZ Medical Genetics Center in Germany.

DNAJB6, MYOT, DES, CAV3, LMNA
Specificity
20 %
Genes
50 %
Muscular Dystrophy: Emery-Dreifuss.

By MGZ Medical Genetics Center in Germany.

EMD, SYNE2, TMEM43, SYNE1, FHL1, LMNA
Specificity
17 %
Genes
50 %
Newborn: Cardiomyopathy as presenting sign.

By MGZ Medical Genetics Center in Germany.

AARS, LAMP2, TTN, LMNA, SDHA, SLC25A20, SLC22A5, GBE1, CPT1A, COX15, LPIN1, TAZ, SCO2, GFM1, SLC25A3, TMEM70, AGK, MTO1, CPT2, GAA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Myopathy – Rigid Spine.

By MGZ Medical Genetics Center in Germany.

COL6A1, COL6A3, COL6A2, LAMA2, EMD, RYR1, SELENON, FHL1, LMNA, GAA
Specificity
10 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 2B1.

By MGZ Medical Genetics Center in Germany.

LMNA
Specificity
100 %
Genes
50 %
Progeroid Laminopathies.

By MGZ Medical Genetics Center in Germany.

LMNA
Specificity
100 %
Genes
50 %
Congenital muscular dystrophy, LMNA-related.

By MGZ Medical Genetics Center in Germany.

LMNA
Specificity
100 %
Genes
50 %
Limb-girdle muscular dystrophy, type 1B.

By MGZ Medical Genetics Center in Germany.

LMNA
Specificity
100 %
Genes
50 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
50 %
Emery-Dreifuss Muscular Dystrophy.

By MGZ Medical Genetics Center in Germany.

EMD, SYNE2, TMEM43, SYNE1, FHL1, LMNA
Specificity
17 %
Genes
50 %
Newborn: “Floppy Infant “.

By MGZ Medical Genetics Center in Germany.

SLC52A3, ALG14, GMPPB, POMK, FKBP14, LAS1L, LAMP2, CUL4B, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
50 %
Muscle Disease with Contractures and/or Rigid Spine.

By MGZ Medical Genetics Center in Germany.

PIEZO2, TOR1AIP1, COL6A1, COL6A3, COL6A2, LAMA2, EMD, SYNE2, TMEM43, SYNE1, TNNT1, TPM2, CFL2, KBTBD13, ACTA1, TPM3, KLHL40, RYR1, SELENON, FHL1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Spinal Muscular Atrophy, Proximal Motor Neuropathy.

By MGZ Medical Genetics Center in Germany.

CLP1, SLC52A3, SLC52A2, TFG, LAS1L, IGHMBP2, DYNC1H1, BICD2, VAPB, SETX, LMNA, TRPV4, HEXA, MFN2
Specificity
8 %
Genes
50 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

SLC6A5, GLRA1, GLRB, SLC52A3, ALG14, LRP4, PREPL, MICU1, ORAI1, STIM1, HADH, PGK1, FDX2, MYBPC1, PIEZO2, GMPPB, STAC3, POMK, TOR1AIP1, MTMR14 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
50 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

STIM1, HADH, GMPPB, TOR1AIP1, TNPO3, LIMS2, HINT1, LAMP2, HNRNPU, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, CHRNB1, CHRND, CHRNA1, GFPT1, COLQ, SGCD , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Dilated Cardiomyopathy Sequential Panel.

By FirmaLab in United States.

TNNT2, ACTC1, SCN5A, MYH7, TTN, LMNA
Specificity
17 %
Genes
50 %
Charcot Marie Tooth Type 2 Panel.

By FirmaLab in United States.

MED25, AARS, LMNA, DNM2, YARS, HSPB1, RAB7A, HSPB8, NEFL, MPZ, TRPV4, GDAP1, MFN2, KIF1B, GARS
Specificity
7 %
Genes
50 %
hypertrophic/dilated cardiomyopathy.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

TNNT2, TNNI3, MYBPC3, MYH7, LMNA
Specificity
20 %
Genes
50 %
Limb Girdle Muscular Dystrophy.

By GeneTech ATS GeneTech Private Limited in India.

LMNA
Specificity
100 %
Genes
50 %
Cardiac conduction abnormalities panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, KCNQ1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
50 %
Cardiomyopathy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

MYOZ1, TRIM63, CALR3, TMPO, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
50 %
Emery-Dreifuss muscular dystrophy type 2.

By Centogene AG - the Rare Disease Company in Germany.

LMNA
Specificity
100 %
Genes
50 %
Cardiomyopathy, dilated type 1A.

By Centogene AG - the Rare Disease Company in Germany.

LMNA
Specificity
100 %
Genes
50 %
Limb-girdle muscular dystrophy panel.

By Centogene AG - the Rare Disease Company in Germany.

SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA, FKTN , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
CHARCOT-MARIE-TOOTH DISEASE NEURONAL TYPE 2B1.

By Centogene AG - the Rare Disease Company in Germany.

LMNA
Specificity
100 %
Genes
50 %
Limb-girdle muscular dystrophy, autosomal dominant type 1B.

By Centogene AG - the Rare Disease Company in Germany.

LMNA
Specificity
100 %
Genes
50 %
Muscular Dystrophies Panel.

By CeGaT GmbH in Germany.

GMPPB, ALG13, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, DPM2, LAMA2, SMCHD1, ISPD, TCAP, POMT1, POMT2, EMD, SYNE2, TMEM43, SYNE1, SELENON , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Limb-Girdle Muscular Dystrophies Panel.

By CeGaT GmbH in Germany.

GMPPB, POMK, HNRNPDL, TNPO3, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Left Ventricular Noncompaction Cardiomyopathy (LVNC) Panel.

By CeGaT GmbH in Germany.

MIB1, DTNA, TNNT2, TPM1, PRDM16, ACTC1, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
10 %
Genes
50 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Panel.

By CeGaT GmbH in Germany.

CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, TMEM43, DES, TTN, LMNA, DSP
Specificity
8 %
Genes
50 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, SCN10A, DST, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
50 %
Progeria syndromes Panel.

By CeGaT GmbH in Germany.

BANF1, GTF2H5, ERCC5, WRN, PTDSS1, ERCC8, POLD1, ERCC4, ERCC6, ZMPSTE24, ERCC3, ERCC2, LMNA, BLM, ALDH18A1, PYCR1, B4GALT7, RECQL4
Specificity
6 %
Genes
50 %
LMNA - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

LMNA
Specificity
100 %
Genes
50 %
Limb-Girdle Muscular Dystrophy type 1.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

HNRNPDL, TNPO3, DNAJB6, MYOT, DES, CAV3, LMNA
Specificity
15 %
Genes
50 %
LMNA.

By Innovagenomics Innovagenomics S.L in Spain.

LMNA
Specificity
100 %
Genes
50 %
Hypertrophic cardiomyopathy, LMNA.

By GGA - Galil Genetic Analysis in Israel.

LMNA
Specificity
100 %
Genes
50 %
Mandibuloacral Dysplasia.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

LMNA
Specificity
100 %
Genes
50 %
LMNA-Related Dilated Cardiomyopathy.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

LMNA
Specificity
100 %
Genes
50 %
LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

LMNA
Specificity
100 %
Genes
50 %
Familial Partial Lipodystrophy Type 2.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

LMNA
Specificity
100 %
Genes
50 %
LMNA-Related Muscle Diseases.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

LMNA
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 2B1 (LMNA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

LMNA
Specificity
100 %
Genes
50 %
LAMIN A/C.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

LMNA
Specificity
100 %
Genes
50 %
Limb girdle muscular dystrophy 1B.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

LMNA
Specificity
100 %
Genes
50 %
Limb girdle muscular dystrophy-Panel.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SGCD, TCAP, POMT1, POMT2, DNAJB6, MYOT, ANO5, DES, DYSF, CAV3, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, DMD, TRIM32
Specificity
6 %
Genes
50 %
Charcot-Marie-Tooth Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

ARHGEF10, NGF, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, PRPS1, SCN9A , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
50 %
Arrhythmia.

By Asper Biogene Asper Biogene LLC in Estonia.

GJA5, NPPA, DSC2, JUP, DSG2, PLN, NKX2-5, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, TMEM43, LDB3, DES, TTN, LMNA, DSP
Specificity
8 %
Genes
50 %
Dilated Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

TBX20, TMPO, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Limb-Girdle Muscular Dystrophy.

By Asper Biogene Asper Biogene LLC in Estonia.

GMPPB, POMK, HNRNPDL, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, LMNA, CAPN3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
LMNA gene sequencing.

By Health in Code in Spain.

LMNA
Specificity
100 %
Genes
50 %
Dilated cardiomyopathy with conduction disorders Stage 1.

By Health in Code in Spain.

LMNA
Specificity
100 %
Genes
50 %
Dilated cardiomyopathy with frequent ventricular arrhythmias Stage 1.

By Health in Code in Spain.

LMNA
Specificity
100 %
Genes
50 %
Dilated cardiomyopathy associated with hypertrabeculation Stage 2.

By Health in Code in Spain.

LMNA
Specificity
100 %
Genes
50 %
Dilated cardiomyopathy associated with skeletal myopathy and/or elevated CPK level Stage 1.

By Health in Code in Spain.

LMNA
Specificity
100 %
Genes
50 %
Left ventricular non-compaction adult Stage 2.

By Health in Code in Spain.

LDB3, LMNA
Specificity
50 %
Genes
50 %
Standard dilated cardiomyopathy Stage 1.

By Health in Code in Spain.

LMNA
Specificity
100 %
Genes
50 %
Left Ventricular Non-Compactation Panel.

By Health in Code in Spain.

MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Auricular Fibrillation Panel.

By Health in Code in Spain.

KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Restrictive Cardiomyopathy Panel.

By Health in Code in Spain.

MYL3, MYL2, ACTN2, TNNT2, TPM1, MYPN, TNNI3, TNNC1, ACTC1, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, LMNA, GLA, TTR, HFE
Specificity
5 %
Genes
50 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
50 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
50 %
Skeletal Myopathy Panel.

By Health in Code in Spain.

CAVIN4, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
50 %
Cardiac Conduction Disease Panel.

By Health in Code in Spain.

CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, EMD , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease.

By Health in Code in Spain.

KCNE5, CTNNA3, SCN10A, ANK3, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
Cardiomyopathies Panel.

By Health in Code in Spain.

FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
50 %
Arrythmogenic Cardiomyopathy Panel.

By Health in Code in Spain.

CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, CASQ2, RYR2, PKP2, SCN5A, TMEM43, LDB3, FLNC, DES, TTN, LMNA, DSP
Specificity
6 %
Genes
50 %
Hypertrophic Cardiomyopathy Extended Panel.

By Health in Code in Spain.

FHOD3, TRIM63, KLF10, CALR3, CAVIN4, OBSL1, AGPAT2, FHL2, CTF1, VCL, MYL3, MYL2, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Arrhythmogenic cardiomyopathy.

By Health in Code in Spain.

PPP1R13L, PERP, PKP4, CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, CASQ2, RYR2, PKP2, CTNNB1, SCN5A, TMEM43, LDB3, FLNC, DES, TTN, LMNA , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Mixed hyperlipidemias.

By Health in Code in Spain.

INSIG2, AGPAT2, PLIN1, CIDEC, INSR, AKT2, ZMPSTE24, CAV1, BSCL2, LMNA, LEP, CAVIN1, PPARG
Specificity
8 %
Genes
50 %
Ventricular arrhythmia and sudden death without structural heart disease.

By Health in Code in Spain.

IRX3, KCNK17, KCND2, TNNI3K, CALM3, CAVIN4, KCNE5, SCN10A, FGF12, ANK3, GJA5, NPPA, FHL2, TBX5, NOS1AP, DSC2, TNNT2, RANGRF, JUP, DSG2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
50 %
Non-compaction cardiomyopathy.

By Health in Code in Spain.

NNT, MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Skeletal myopathy Panel.

By Health in Code in Spain.

CAVIN4, XK, SPEG, TOR1AIP1, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Dyslipidemias / Early atherosclerosis.

By Health in Code in Spain.

CH25H, TRIB1, SLC25A40, PPARA, LPA, SLC22A8, CYP3A5, LRP6, INSIG2, CYP3A4, SAR1B, MYLIP, SLCO1B1, PLTP, LIPC, APOC3, AGPAT2, PLIN1, CIDEC, TBC1D4 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
50 %
Cardiac conduction disease Panel.

By Health in Code in Spain.

IRX3, KCNK17, TNNI3K, CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Atrial fibrillation Panel.

By Health in Code in Spain.

GREM2, NKX2-6, TNNI3K, GATA5, KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

FHOD3, CHRM2, COL7A1, FHL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, EMD, ACTA1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Arrhythmia General Panel.

By Health in Code in Spain.

GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
50 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

MYOM1, FHOD3, MRPL44, COA6, TRIM63, KLF10, CALR3, CAVIN4, COA5, OBSL1, AGPAT2, OBSCN, FHL2, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
50 %
Resctrictive cardiomyopathy.

By Health in Code in Spain.

MYL3, MYL2, ACTN2, TNNT2, TPM1, MYPN, TNNI3, TNNC1, ACTC1, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, LMNA, GLA, TTR, HFE
Specificity
5 %
Genes
50 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
LMNA-Related Dilated Cardiomyopathy.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

LMNA
Specificity
100 %
Genes
50 %
Lethal Restrictive Dermopathy, LMNA-Related.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

LMNA
Specificity
100 %
Genes
50 %
LMNA-Related Muscle Diseases.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

LMNA
Specificity
100 %
Genes
50 %
aHUS/DDD Genetic Evaluation.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

C4BPB, C4BPA, CFHR4, ADAMTS13, DGKE, CFHR3, CFHR1, THBD, C3, CD46, CFHR5, CFH, CFI, CFB, LMNA
Specificity
7 %
Genes
50 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

SERPIND1, HRG, PLA2G4A, C4BPB, C4BPA, LMAN1, SERPINC1, F13A1, F10, GP9, ACTN1, CFHR4, F7, VKORC1, PROC, RBM8A, G6PC3, STXBP2, ELANE, GP1BB , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
Cardiomyopathy, dilated, 1A.

By Praxis fuer Humangenetik Wien in Austria.

LMNA
Specificity
100 %
Genes
50 %
Cardiomyopathy, dilated, 1A.

By Praxis fuer Humangenetik Wien in Austria.

LMNA
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth 2B1.

By Praxis fuer Humangenetik Wien in Austria.

LMNA
Specificity
100 %
Genes
50 %
Hutchinson-Gilford progeria syndrome.

By Praxis fuer Humangenetik Wien in Austria.

LMNA
Specificity
100 %
Genes
50 %
Lipodystrophy, familial partial, 2.

By Praxis fuer Humangenetik Wien in Austria.

LMNA
Specificity
100 %
Genes
50 %
Muscular dystrophy, congenital.

By Praxis fuer Humangenetik Wien in Austria.

LMNA
Specificity
100 %
Genes
50 %
Muscular dystrophy, limb-girdle 1B.

By Praxis fuer Humangenetik Wien in Austria.

LMNA
Specificity
100 %
Genes
50 %
Restrictive dermopathy, lethal.

By Praxis fuer Humangenetik Wien in Austria.

LMNA
Specificity
100 %
Genes
50 %
Emery-Dreifuss muscular dystrophy.

By Praxis fuer Humangenetik Wien in Austria.

LMNA
Specificity
100 %
Genes
50 %
LMNA Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

LMNA
Specificity
100 %
Genes
50 %
LMNA.

By Division Human Genetics Medical University Innsbruck in Austria.

LMNA
Specificity
100 %
Genes
50 %
Cardiomyopathy, dilated, 1A.

By MedGene in Slovakia.

LMNA
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth 2B1.

By MedGene in Slovakia.

LMNA
Specificity
100 %
Genes
50 %
Emery-Dreifuss muscular dystrophy.

By MedGene in Slovakia.

LMNA
Specificity
100 %
Genes
50 %
Hutchinson-Gilford progeria syndrome.

By MedGene in Slovakia.

LMNA
Specificity
100 %
Genes
50 %
Lipodystrophy, familial partial, 2.

By MedGene in Slovakia.

LMNA
Specificity
100 %
Genes
50 %
Muscular dystrophy, congenital.

By MedGene in Slovakia.

LMNA
Specificity
100 %
Genes
50 %
Muscular dystrophy, limb-girdle 1B.

By MedGene in Slovakia.

LMNA
Specificity
100 %
Genes
50 %
Restrictive dermopathy, lethal.

By MedGene in Slovakia.

LMNA
Specificity
100 %
Genes
50 %
Invitae Arrhythmia Comprehensive Panel.

By Invitae in United States.

MYL4, CALM3, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, NKX2-5, KCNA5, CASQ2, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

MYL4, CALM3, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, NKX2-5, TGFB3, ACTC1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
50 %
Invitae Arrhythmogenic Cardiomyopathy Panel.

By Invitae in United States.

DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, RYR2, PKP2, SCN5A, EMD, TMEM43, FLNC, DES, TTN, LMNA, DSP
Specificity
6 %
Genes
50 %
Invitae Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Invitae Dilated Cardiomyopathy Panel.

By Invitae in United States.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Invitae Left Ventricular Noncompaction Panel.

By Invitae in United States.

VCL, TNNT2, TPM1, PLN, TNNI3, ACTC1, RYR2, LAMP2, SCN5A, HCN4, MYBPC3, MYH7, LMNA, TAZ, DSP
Specificity
7 %
Genes
50 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

VMA21, STIM1, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL2, MYPN, FKBP14, LAMP2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
50 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

FBXO38, ATL3, SCN11A, NGF, RETREG1, CHCHD10, SLC52A3, SLC52A2, DST, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, GNB4, PDK3, TRIM2 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
50 %
Invitae Comprehensive Muscular Dystrophy Panel.

By Invitae in United States.

GMPPB, POMK, TNPO3, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Invitae Congenital Muscular Dystrophy Panel.

By Invitae in United States.

GMPPB, POMK, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, FKRP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Invitae Emery-Dreifuss Muscular Dystrophy Panel.

By Invitae in United States.

EMD, FHL1, LMNA
Specificity
34 %
Genes
50 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

STIM1, VCL, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, PLN , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
50 %
Invitae Comprehensive Myopathy Panel.

By Invitae in United States.

STIM1, LMOD3, STAC3, KLHL41, MYL2, MYPN, FKBP14, COL6A1, COL6A3, COL6A2, KCNJ2, DNAJB6, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Invitae Limb-Girdle Muscular Dystrophy Panel.

By Invitae in United States.

GMPPB, POMK, TNPO3, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Invitae Congenital Fiber-Type Disproportion Panel.

By Invitae in United States.

TPM2, ACTA1, TPM3, RYR1, SELENON, MYH7, LMNA
Specificity
15 %
Genes
50 %
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel.

By Invitae in United States.

MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, GNB4, PDK3, TRIM2, PLEKHG5, MORC2, PRPS1, IGHMBP2, DYNC1H1, BSCL2, INF2, SPG11, GJB1, LMNA, DNM2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel.

By Invitae in United States.

MED25, LRSAM1, HINT1, DNAJB2, TRIM2, PLEKHG5, IGHMBP2, SPG11, LMNA, EGR2, NEFL, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, MFN2
Specificity
5 %
Genes
50 %
Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel.

By Invitae in United States.

AARS, LRSAM1, TFG, GNB4, MORC2, DYNC1H1, BSCL2, INF2, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Charcot Marie-Tooth disease: LMNA gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LMNA
Specificity
100 %
Genes
50 %
Dilated cardiomyopathy: LMNA gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LMNA
Specificity
100 %
Genes
50 %
Emery-Dreifuss muscular dystrophy type 3, autosomal recessive: LMNA gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LMNA
Specificity
100 %
Genes
50 %
Emery-Dreyfuss muscular dystrophy type 2, autosomal dominant: LMNA gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LMNA
Specificity
100 %
Genes
50 %
Limb-girdle muscular dystrophy type 1B (LGMD 1B): LMNA gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LMNA
Specificity
100 %
Genes
50 %
Lipodystrophy, Familial partial, Dunnigan type: LMNA gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LMNA
Specificity
100 %
Genes
50 %
CARDIOMYOPATHY, DILATED (DCM.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
CHARCOT- MARIE TOOTH.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MED25, AARS, LRSAM1, PRPS1, DYNC1H1, BSCL2, INF2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
LIMB-GIRDLE MUSCULAR DYSTROPHY.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
LYMPHEDEMA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

FLT4, KIF11, ZMPSTE24, CCBE1, SOX18, FOXC2, LMNA, GATA2, GJC2
Specificity
12 %
Genes
50 %
LIMB-GIRDLE MUSCULAR DYSTROPHY, A.D..

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

DNAJB6, MYOT, DES, CAV3, LMNA
Specificity
20 %
Genes
50 %
Left ventricular noncompaction.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

DTNA, TNNT2, TPM1, ACTC1, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
12 %
Genes
50 %
Lipodystrophy, familial partial.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PLIN1, CIDEC, LIPE, LMNA, PPARG
Specificity
20 %
Genes
50 %
Myofibrillar myopathy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

DNAJB6, TPM3, FHL1, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, LMNA, CRYAB, TRIM32
Specificity
8 %
Genes
50 %
Limb-Girdle Muscular Dystrophy Type 1B: LMNA Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LMNA
Specificity
100 %
Genes
50 %
Limb-Girdle Muscular Dystrophy Type 1B: LMNA Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LMNA
Specificity
100 %
Genes
50 %
Congenital Muscular Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, RYR1, SELENON, FKRP, LMNA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Dilated Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AMPD3, TNNI2, AMPD1, RYR2, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, TNNT1, TPM2 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AMPD3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
50 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A1, COL6A3, COL6A2, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, SYNE2, SYNE1, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAFB, MMP2, DMP1, SLC34A3, CLCN5, ENPP1, NOTCH2, TREM2, GORAB, SERPINH1, GNAS, ZMPSTE24, ANO5, FGF23, PHEX, CASR, LMNA, PPIB, PLOD2, CRTAP , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
50 %
Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Congenital Muscular Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, RYR1, SELENON, FKRP, LMNA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Dilated Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, ABCC9, LAMP2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
50 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
50 %
Familial Cardiomyopathy Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

HOPX, APOA1, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Muscular Dystrophies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MMEL1, SGCD, TCAP, POMT1, POMT2, DAG1, DNAJB6, EMD, SYNE2, TMEM43, SYNE1, FHL1, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Arrhythmia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GYG1, GJA5, NPPA, DSC2, JUP, DSG2, PRKAG2, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
Pan-Cardio NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2 , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
50 %
Hereditary Neuropathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MED25, AARS, LRSAM1, DNMT1, SCN9A, DYNC1H1, ATL1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
50 %
Atrial Fibrillation NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GJA5, NPPA, NUP155, GATA6, GATA4, KCNA5, SCN4B, KCNJ5, KCNE2, RYR2, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Lipodystrophy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AGPAT2, CIDEC, TBC1D4, AKT2, ZMPSTE24, CAV1, BSCL2, LMNA, CAVIN1, PPARG
Specificity
10 %
Genes
50 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AMPD3, TNNI2, AMPD1, RYR2, PEX5, PEX12, PEX26, PEX3, PEX14, PEX6, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, SGCD, TCAP, POMT1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Sudden Death Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
50 %
Left Ventricular Noncompaction NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VCL, DTNA, TNNT2, ACTC1, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
12 %
Genes
50 %
Limb-Girdle Muscular Dystrophy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ISPD, SGCD, TCAP, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, PNPLA2, TRIM32
Specificity
6 %
Genes
50 %
Charcot Marie Tooth Disease Extended NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NGF, RETREG1, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, IGHMBP2, DYNC1H1, KIF1A, BSCL2, ATL1, SPTLC1, WNK1, NTRK1, GJB1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Dilated Cardiomyopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, PKP2, ABCC9, LAMP2, SGCD , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Hypertrophic Cardiomyopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
50 %
LMNA.

By Fulgent Genetics Fulgent Genetics in United States.

LMNA
Specificity
100 %
Genes
50 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
50 %
Progeria and Progeroid Syndromes Panel.

By Blueprint Genetics in Finland.

ERCC5, WRN, AGPAT2, ERCC8, ERCC4, GORAB, ERCC6, ZMPSTE24, ERCC2, BSCL2, LMNA, BLM, ALDH18A1, PYCR1, COL3A1, B4GALT7, RECQL4
Specificity
6 %
Genes
50 %
Atrial Fibrillation Panel.

By Blueprint Genetics in Finland.

SCN10A, NUP155, GATA6, TBX5, KCNA5, KCNJ5, KCNE2, RYR2, CACNB2, SCN3B, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, LDB3, LMNA
Specificity
6 %
Genes
50 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
50 %
Emery-Dreifuss Muscular Dystrophy Panel.

By Blueprint Genetics in Finland.

EMD, TMEM43, FHL1, TTN, LMNA, DMD
Specificity
17 %
Genes
50 %
LGMD and Congenital Muscular Dystrophy Panel.

By Blueprint Genetics in Finland.

VMA21, COL4A2, POGLUT1, GMPPB, SPEG, TOR1AIP1, TNPO3, LIMS2, COL4A1, ITGA7, B3GALNT2, LARGE1, POMGNT2, LAMA2, SMCHD1, ISPD, SGCD, TCAP, POMT1, DNAJB6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Comprehensive Muscular Dystrophy / Myopathy Panel.

By Blueprint Genetics in Finland.

TMEM126B, VMA21, COL4A2, RBCK1, POGLUT1, MICU1, GMPPB, LMOD3, SPEG, TOR1AIP1, TNPO3, LIMS2, KLHL41, COL12A1, MME, VPS13A, COL4A1, ITGA7, B3GALNT2, COL6A1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

ATAD3A, MCM3AP, PRDM12, DCAF8, ATL3, SCN11A, ARHGEF10, NGF, RETREG1, CHCHD10, SLC25A46, DST, COX10, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
50 %
Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel.

By Blueprint Genetics in Finland.

PLEKHM2, FBXO32, CTNNA3, VCL, DTNA, DSC2, RBM20, JPH2, TNNT2, TPM1, JUP, DSG2, PLN, MYH6, RYR2, PKP2, ABCC9, LAMP2, SCN5A, HCN4 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Arrhythmia Panel.

By Blueprint Genetics in Finland.

PPA2, CDH2, TECRL, MYL4, TNNI3K, CALM3, CTNNA3, SCN10A, NUP155, GATA6, DBH, TBX5, SALL4, NOS1AP, DSC2, TNNT2, JUP, DSG2, PLN, MYH6 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
Premature Ovarian Failure Panel.

By Blueprint Genetics in Finland.

FSHR, BMP15, NOBOX, CYP19A1, GNAS, NR5A1, POR, LHCGR, LMNA, CYP17A1, GALT, POLG, WT1, STAR, FOXL2
Specificity
7 %
Genes
50 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
50 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
50 %
Congenital and Familial Lipodystrophy Panel.

By Blueprint Genetics in Finland.

AGPAT2, PLIN1, TBC1D4, LIPE, AKT2, ZMPSTE24, CAV1, BSCL2, LMNA, CAVIN1, PPARG
Specificity
10 %
Genes
50 %
Dilated Cardiomyopathy (DCM) Panel.

By Blueprint Genetics in Finland.

PLEKHM2, LRRC10, FBXO32, GATAD2A, MYBPHL, HAND1, FOXD4, RMND1, MYL4, TNNI3K, TAB2, ALPK3, TBX20, RBCK1, EPG5, GATA6, APOA1, TBX5, VCL, SPEG , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
50 %
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel.

By Blueprint Genetics in Finland.

CDH2, CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, TMEM43, LDB3, FLNC, MYH7, DES, TTN, LMNA, DSP
Specificity
6 %
Genes
50 %
LMNA-related disorders (LMNA) sequencing.

By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran.

LMNA
Specificity
100 %
Genes
50 %
Lamin A/C full sequence.

By Bioarray in Spain.

LMNA
Specificity
100 %
Genes
50 %
Cardiomyopathy, dilated type 1A.

By Bioarray in Spain.

LMNA
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth neuropathy type 2B1.

By Bioarray in Spain.

LMNA
Specificity
100 %
Genes
50 %
Autosomal dominant limb-girdle muscular dystrophy type 1B.

By Bioarray in Spain.

LMNA
Specificity
100 %
Genes
50 %
Emery-Dreifuss muscular dystrophy autosomal dominant.

By Bioarray in Spain.

LMNA
Specificity
100 %
Genes
50 %
CardioGene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Cardiomyopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Dilated Cardiomyopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TMPO, FHL2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, ABCC9, LAMP2, SCN5A , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Left Ventricular Noncompaction Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

VCL, DTNA, TNNT2, ACTC1, CASQ2, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
10 %
Genes
50 %
Noncompaction Cardiomyopathy NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

DTNA, TNNT2, TPM1, ACTC1, MYBPC3, LDB3, MYH7, LMNA
Specificity
13 %
Genes
50 %
LMNA Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

LMNA
Specificity
100 %
Genes
50 %
Comprehensive Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, VCL, MYL3, MYL2, ACTN2, RBM20, TNNT2, TPM1, MYPN, PLN, PRKAG2, MYH6, TNNI3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Dilated Cardiomyopathy Panel.

By ApolloGen, Inc. in United States.

MT-TL2, MT-TM, MT-TQ, MT-TH, MT-TI, TMPO, VCL, ACTN2, RBM20, TNNT2, TPM1, MYPN, PLN, MYH6, TNNI3, LAMA4, ACTC1, ABCC9, MT-TS2, MT-TS1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
50 %
iGene Cardiac Panel.

By ApolloGen, Inc. in United States.

APOB, PCSK9, MYL3, TNNT2, TPM1, DSG2, PRKAG2, TNNI3, ACTC1, RYR2, PKP2, KCNQ1, SCN5A, KCNH2, MYBPC3, MYH7, TTN, LMNA, LDLR, GLA , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Cardiomyopathy Exome Panel.

By Northwest Clinical Genomics Laboratory University of Washington in United States.

CAVIN4, CHRM2, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
50 %
Cardiac Arrhythmia Exome Panel.

By Northwest Clinical Genomics Laboratory University of Washington in United States.

GNAI2, GJA5, NPPA, DPP6, DSC2, RBM20, TNNT2, DSG2, PLN, PRKAG2, MYH6, NKX2-5, KCNA5, SCN4B, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
50 %
LMNA-related disorders (LMNA) sequencing.

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran.

LMNA
Specificity
100 %
Genes
50 %
Familial Dilated Cardiomyopathy Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Left Ventricular Noncompaction Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
LMNA Gene, entire coding region or targeted variant.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

LMNA
Specificity
100 %
Genes
50 %
Arrhythmogenic Right Ventricular Cardiomyopathy Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, SCN5A, TMEM43, DES, TTN, LMNA, DSP
Specificity
8 %
Genes
50 %
Cardiomyopathies.

By Cardiovascular Genetics PO San Francesco-NUORO (IT) in Italy.

MYL2, TNNT2, PLN, MYH6, TNNI3, MYBPC3, MYH7, TTN, LMNA, TAZ, TTR
Specificity
10 %
Genes
50 %
CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1.

By Laboratorio de Genetica Clinica SL in Spain.

LMNA
Specificity
100 %
Genes
50 %
LIPODYSTROPHY, FAMILIAL PARTIAL.

By Laboratorio de Genetica Clinica SL in Spain.

LMNA, PPARG
Specificity
50 %
Genes
50 %
FAMILIAL DILATED CARDIOMYOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, SCN5A, TCAP, MYBPC3, BAG3, LDB3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

CALR3, MIB1, TBX20, GATA6, TBX5, VCL, DTNA, MYL3, MYL2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
DILATED CARDIOMYOPATHY WITH ISOLATED NONCOMPACTION OF LEFT VENTRICULAR.

By Laboratorio de Genetica Clinica SL in Spain.

DTNA, MYBPC3, LDB3, MYH7, LMNA, TAZ
Specificity
17 %
Genes
50 %
CHARCOT-MARIE-TOOTH : NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

MED25, AARS, LRSAM1, PDK3, PRPS1, DYNC1H1, BSCL2, INF2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

GMPPB, HNRNPDL, TNPO3, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
MUSCULAR DYSTROPHY, EMERY-DREYFUSS, TYPE 2 & TYPE 3.

By Laboratorio de Genetica Clinica SL in Spain.

LMNA
Specificity
100 %
Genes
50 %
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (AUT. DOMINANT) (LAMIN A/C DEFICIENCY).

By Laboratorio de Genetica Clinica SL in Spain.

LMNA
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel.

By LifeLabs Genetics in Canada.

ARHGEF10, GAN, MED25, AARS, DYNC1H1, LMNA, DNM2, YARS, HSPB1, HSPB8, NEFL, MPZ, TRPV4, GDAP1, SLC12A6, MFN2, KIF1B, GARS
Specificity
6 %
Genes
50 %
Limb-girdle muscular dystrophy panel.

By LifeLabs Genetics in Canada.

SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Autosomal Dominant Enery-Dreifuss Muscular Dystrophy Type 2 , Sequencing LMNA Gene.

By Reference Laboratory Genetics in Spain.

LMNA
Specificity
100 %
Genes
50 %
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Type 3, Sequencing LMNA Gene.

By Reference Laboratory Genetics in Spain.

LMNA
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Disease Type 2B1, Sequencing LMNA Gene.

By Reference Laboratory Genetics in Spain.

LMNA
Specificity
100 %
Genes
50 %
Limb-Girdle Muscular Dystrophy Type 1B, Sequencing LMNA Gene.

By Reference Laboratory Genetics in Spain.

LMNA
Specificity
100 %
Genes
50 %
Hutchinson-Gilford Progeria Syndrome , Sequencing LMNA Gene.

By Reference Laboratory Genetics in Spain.

LMNA
Specificity
100 %
Genes
50 %
Dilated Cardiomyopathy, Sequencing LMNA Gene.

By Reference Laboratory Genetics in Spain.

LMNA
Specificity
100 %
Genes
50 %
Familial Partial Lipodystrophy Type Dunnigan, Sequencing LMNA Gene.

By Reference Laboratory Genetics in Spain.

LMNA
Specificity
100 %
Genes
50 %
Dilated Cardiomyopathy , Deletions-Duplications (MLPA) LMNA Gene.

By Reference Laboratory Genetics in Spain.

LMNA
Specificity
100 %
Genes
50 %
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 3 Genes.

By Reference Laboratory Genetics in Spain.

MYOT, CAV3, LMNA
Specificity
34 %
Genes
50 %
Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3, BAG3, LDB3 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

GAN, MED25, AARS, PRPS1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, POMGNT1, SGCB, SGCA , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes.

By Reference Laboratory Genetics in Spain.

MED25, AARS, LRSAM1, PRPS1, DYNC1H1, BSCL2, INF2, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Catecholaminergic Polymorphic Ventricular Tachycardia , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

VCL, DTNA, TNNT2, TPM1, ACTC1, CASQ2, RYR2, HCN4, MYBPC3, LDB3, MYH7, LMNA, TAZ, DNAJC19
Specificity
8 %
Genes
50 %
Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes.

By Reference Laboratory Genetics in Spain.

CTNNA3, SCN10A, DSC2, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
50 %
Lipodystrophy Related Disorders , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

AGPAT2, PLIN1, CIDEC, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, PPARG
Specificity
10 %
Genes
50 %
Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

MED25, AARS, LRSAM1, MME, IGHMBP2, DYNC1H1, LMNA, DNM2, HSPB1, RAB7A, HSPB8, NEFL, MPZ, TRPV4, GDAP1, NAGLU, HARS, MFN2, KIF1B, GARS
Specificity
5 %
Genes
50 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1 , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
50 %
Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

TNNI3K, SCN10A, GJA5, TBX5, PRKAG2, NKX2-5, ACTC1, TRPM4, LAMP2, CACNA1D, SCN5A, HCN4, SCN1B, KCNJ2, EMD, DES, LMNA, GLA, GAA, TTR
Specificity
5 %
Genes
50 %
Emery-Dreifuss Muscular Dystrophy , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

EMD, SYNE2, TMEM43, SYNE1, FHL1, LMNA
Specificity
17 %
Genes
50 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Panel (ARVD/ARVC Panel).

By Labor Dr. Wisplinghoff in Germany.

DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, DES, TTN, LMNA, DSP
Specificity
10 %
Genes
50 %
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Phosphorus Pan Arrhythmia Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TGFB3, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Phosphorus Pan Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
50 %
Phosphorus Arrhythmogenic Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TGFB3, RYR2, PKP2, SCN5A, EMD, TMEM43, LDB3, DES, TTN, LMNA, DSP
Specificity
5 %
Genes
50 %
Phosphorus Dilated Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Phosphorus Left Ventricular Noncompaction Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, ACTN2, TNNT2, TPM1, PLN, TNNI3, ACTC1, RYR2, LAMP2, SCN5A, HCN4, MYBPC3, LDB3, MYH7, LMNA, TAZ, DSP
Specificity
6 %
Genes
50 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
Hutchinson-Gilford Progeria Syndrome: targeted gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

LMNA
Specificity
100 %
Genes
50 %
LMNA-Related Dilated Cardiomyopathy: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

LMNA
Specificity
100 %
Genes
50 %
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

DIAPH2, GDF9, POF1B, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, HFM1, CYP19A1, NR5A1, POR, LHCGR, EIF2B2, EIF2B3, LMNA, EIF2B5, CYP17A1, GALT, FOXL2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %

Alternate names

Mandibuloacral Dysplasia With Type A Lipodystrophy; Mada Is also known as lipodystrophy, type a, associated with mandibuloacral dysplasia, craniomandibular dermatodysostosis.



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