NEB gene related symptoms and diseases
All the information presented here about the NEB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NEB gene
Symptoms // Phenotype | % Cases |
---|---|
Polyhydramnios | Very Common - Between 80% and 100% cases |
Flexion contracture | Very Common - Between 80% and 100% cases |
Nemaline bodies | Common - Between 50% and 80% cases |
Type 1 muscle fiber predominance | Common - Between 50% and 80% cases |
Arthrogryposis multiplex congenita | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with NEB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Facial diplegia
- Low-set ears
- Hypertelorism
- Facial palsy
- Motor delay
- Hyporeflexia
Not very common - Between 30% and 50% cases
- Fetal akinesia sequence
- Spinal rigidity
And 130 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NEB gene
Here you will find a list of rare diseases related to the NEB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEMALINE MYOPATHY 2; NEM2
Description
Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).
Most common symptoms of NEMALINE MYOPATHY 2; NEM2
- Generalized hypotonia
- Scoliosis
- Hypertelorism
- Muscle weakness
- Cleft palate
More info about NEMALINE MYOPATHY 2; NEM2
LETHAL MULTIPLE PTERYGIUM SYNDROME
Alternate names
LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps, pterygium syndrome, multiple, lethal type, autosomal recessive lethal multiple pterygium syndrome
Description
Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.
Most common symptoms of LETHAL MULTIPLE PTERYGIUM SYNDROME
- Microcephaly
- Growth delay
- Hypertelorism
- Micrognathia
- Abnormal facial shape
More info about LETHAL MULTIPLE PTERYGIUM SYNDROME
CHILDHOOD-ONSET NEMALINE MYOPATHY
Alternate names
CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy
Description
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
Most common symptoms of CHILDHOOD-ONSET NEMALINE MYOPATHY
- Generalized hypotonia
- Scoliosis
- Hypertelorism
- Micrognathia
- Ptosis
More info about CHILDHOOD-ONSET NEMALINE MYOPATHY
SOURCES: ORPHANET
SEVERE CONGENITAL NEMALINE MYOPATHY
Description
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.
Most common symptoms of SEVERE CONGENITAL NEMALINE MYOPATHY
- Low-set ears
- Flexion contracture
- Motor delay
- Skeletal muscle atrophy
- Dysphagia
More info about SEVERE CONGENITAL NEMALINE MYOPATHY
SOURCES: ORPHANET
TYPICAL NEMALINE MYOPATHY
Description
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
Most common symptoms of TYPICAL NEMALINE MYOPATHY
- Scoliosis
- Micrognathia
- Ptosis
- Flexion contracture
- High palate
More info about TYPICAL NEMALINE MYOPATHY
SOURCES: ORPHANET
INTERMEDIATE NEMALINE MYOPATHY
Description
Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.
Most common symptoms of INTERMEDIATE NEMALINE MYOPATHY
- Hypertelorism
- Low-set ears
- Flexion contracture
- Motor delay
- Skeletal muscle atrophy
More info about INTERMEDIATE NEMALINE MYOPATHY
SOURCES: ORPHANET
DISTAL NEBULIN MYOPATHY
Alternate names
DISTAL NEBULIN MYOPATHY Is also known as nebulin-related early-onset distal myopathy
Description
Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.
More info about DISTAL NEBULIN MYOPATHY
SOURCES: ORPHANET
Search interest in NEB
Potential gene panels for NEB gene
GeneAware Complete Panel Version 2 (Female) Panel
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By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Male) Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel![](/img/flags/United-states.png)
GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel
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By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panel![](/img/flags/United-states.png)
GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel
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By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panel![](/img/flags/United-states.png)
Distal Myopathy Advanced Sequencing Evaluation Panel
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By Athena Diagnostics Inc Distal Myopathy Advanced Sequencing Evaluation that also includes the following genes: TIA1 MYOT TTN VCP CAV3 LDB3 KLHL9 GNE CRYAB ANO5
More info about this panel![](/img/flags/United-states.png)
Congenital Myopathy Advanced Sequencing Evaluation Panel
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By Athena Diagnostics Inc Congenital Myopathy Advanced Sequencing Evaluation that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON TRIM32
More info about this panel![](/img/flags/United-states.png)
Neuromuscular Disorders Panel Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel![](/img/flags/United-states.png)
Congenital Contractures Panel Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel![](/img/flags/United-states.png)
Ashkenazi Jewish Carrier Screening Panel Panel
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By Center for Human Genetics, Inc Ashkenazi Jewish Carrier Screening Panel that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD F11 FANCC FKTN
More info about this panel![](/img/flags/United-states.png)
Comprehensive Neuromuscular Panel Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel![](/img/flags/United-states.png)
Congenital Muscular Myopathy Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Muscular Myopathy that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 ACTA1 SELENON CFL2 CNTN1 DNM2
More info about this panel![](/img/flags/United-states.png)
Neuromuscular Disorders Sequencing Panel Panel
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By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panel![](/img/flags/United-states.png)
Congenital Myopathy Sequencing Panel Panel
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By Genetic Services Laboratory University of Chicago Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panel![](/img/flags/United-states.png)
Congenital Myopathy Deletion/Duplication Panel Panel
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By Genetic Services Laboratory University of Chicago Congenital Myopathy Deletion/Duplication Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panel![](/img/flags/United-states.png)
Nemaline Myopathy Sequencing Panel Panel
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By Genetic Services Laboratory University of Chicago Nemaline Myopathy Sequencing Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB
More info about this panel![](/img/flags/United-states.png)
Nemaline Myopathy 2 Panel
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By Human Genetics University Hospital Bern
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/Switzerland.png.pagespeed.ce.J0yNRX_kke.png)
Ashkenazi Jewish Diseases, 16 Genes Panel
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By ARUP Laboratories, Molecular Genetics and Genomics Ashkenazi Jewish Diseases, 16 Genes that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD FANCC G6PC HEXA
More info about this panel![](/img/flags/United-states.png)
NEB-Related Nemaline Myopathy, 1 Variant Panel
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By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/United-states.png)
Nemaline myopathy 2 (sequence analysis of NEB gene) Panel
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By CGC Genetics
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital myopathy (NGS panel of 19 genes) Panel
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By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital myopathy (NGS panel of 19 genes) Panel
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By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital Myopathy Sequencing Panel Panel
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By PreventionGenetics PreventionGenetics Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 MICU1 SELENON
More info about this panel![](/img/flags/United-states.png)
Nemaline Myopathy Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Nemaline Myopathy Sequencing Panel with CNV Detection that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB
More info about this panel![](/img/flags/United-states.png)
Nemaline Myopathy (NEM2) via Nebulin (NEB) Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/United-states.png)
Nemaline Myopathy via the NEB exon 55 deletion Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Neuromuscular Sequencing Panel Panel
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By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel![](/img/flags/United-states.png)
Nemaline Myopathy NEB Triplicate Repeat Region, Exons 82-105 Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/United-states.png)
NEB-Related Nemaline Myopathy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MGZ Medical Genetics Center
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy Panel
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By MGZ Medical Genetics Center Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 ACTA1 CCDC78 SELENON CFL2 MTMR14
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Newborn: “Floppy Infant “ Panel
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By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Muscle Disease with Contractures and/or Rigid Spine Panel
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By MGZ Medical Genetics Center Muscle Disease with Contractures and/or Rigid Spine that also includes the following genes: RYR1 TNNT1 TPM2 TPM3 ACTA1 CAPN3 SELENON SYNE2 SYNE1 CFL2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Nemaline Myopathy Panel
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By FirmaLab
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/United-states.png)
Distal Myopathy Panel Panel
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By FirmaLab Distal Myopathy Panel that also includes the following genes: MYOT TTN CAV3 LDB3 GNE ANO5 DNM2 DYSF MATR3 MYH7
More info about this panel![](/img/flags/United-states.png)
Nemaline Panel Panel
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By FirmaLab Nemaline Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 NEB
More info about this panel![](/img/flags/United-states.png)
Nemaline myopathy panel Panel
![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
By Genome Diagnostics Laboratory University Medical Center Utrecht Nemaline myopathy panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 KBTBD13 NEB
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Ashkenazi panel (advanced) Panel
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By Centogene AG - the Rare Disease Company Ashkenazi panel (advanced) that also includes the following genes: BLM CLRN1 MCOLN1 PCDH15 CFTR DLD FANCC G6PC GBA HEXA
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
AllNeuro panel Panel
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By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital and Distal Myopathies Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Ashkenazi Jewish diseases Panel
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By Asper Biogene Asper Biogene LLC Ashkenazi Jewish diseases that also includes the following genes: BLM BRCA1 BRCA2 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 LRRK2 CFTR
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Congenital Myopathy and Distal Myopathy NGS panel Panel
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By Asper Biogene Asper Biogene LLC Congenital Myopathy and Distal Myopathy NGS panel that also includes the following genes: RYR1 SQSTM1 TIA1 TNNT1 TPM2 TPM3 MYOT TTN VCP ACTA1
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Family Prep Screen Panel
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By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel![](/img/flags/United-states.png)
qCarrier Plus Panel
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By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Invitae Comprehensive Neuromuscular Disorders Panel Panel
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By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel![](/img/flags/United-states.png)
Invitae Nemaline Myopathy Panel Panel
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By Invitae Invitae Nemaline Myopathy Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 MYPN KLHL40 KBTBD13 LMOD3
More info about this panel![](/img/flags/United-states.png)
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
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By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1
More info about this panel![](/img/flags/United-states.png)
Invitae Congenital Myopathy Panel Panel
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By Invitae Invitae Congenital Myopathy Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON KLHL41
More info about this panel![](/img/flags/United-states.png)
Invitae Comprehensive Myopathy Panel Panel
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By Invitae Invitae Comprehensive Myopathy Panel that also includes the following genes: RYR1 BIN1 SCN4A SQSTM1 STIM1 TIA1 TNNT1 TPM2 TPM3 MYOT
More info about this panel![](/img/flags/United-states.png)
Nemaline myopathy: NEB gene (exon 55) Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
NEMALINE MYOPATHY Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NEMALINE MYOPATHY that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 MTM1 NEB
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Nemaline Myopathy, NEB-Related: NEB Full Gene Sequencing Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/United-states.png)
Nemaline Myopathy, NEB-Related: NEB Gene Deletion/Duplication Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/United-states.png)
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panel![](/img/flags/United-states.png)
Expanded Neuromuscular Disorders: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel![](/img/flags/United-states.png)
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel![](/img/flags/United-states.png)
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panel![](/img/flags/United-states.png)
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panel![](/img/flags/United-states.png)
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel![](/img/flags/United-states.png)
Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel
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By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS
More info about this panel![](/img/flags/United-states.png)
Ashkenazi Jewish Carrier Testing Panel
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By Integrated Genetics Westborough Integrated Genetics Ashkenazi Jewish Carrier Testing that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC FKTN
More info about this panel![](/img/flags/United-states.png)
Nemaline Myopathy Panel
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By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/United-states.png)
Inheritest NGS, Comprehensive Panel
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By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel![](/img/flags/United-states.png)
Neuromuscular NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Neuromuscular NGS Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panel![](/img/flags/United-states.png)
Nemaline Myopathy NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Nemaline Myopathy NGS Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 KBTBD13 NEB
More info about this panel![](/img/flags/United-states.png)
NEB Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Muscular Dystrophy / Myopathy Panel Panel
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By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Nemaline Myopathy Panel Panel
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By Blueprint Genetics Nemaline Myopathy Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 MTM1
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Arthrogryposes Panel Panel
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By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Nemaline myopathy type 2 Panel
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By Bioarray
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Nemaline Congenital Myopathy NGS and Deletion/Duplication Panel Panel
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By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Nemaline Congenital Myopathy NGS and Deletion/Duplication Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 KBTBD13 NEB
More info about this panel![](/img/flags/United-states.png)
NEB Gene Sequencing and Deletion/Duplication Analysis Panel
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By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/United-states.png)
NEMALINE MYOPATHY NGS PANEL Panel
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By Laboratorio de Genetica Clinica SL NEMALINE MYOPATHY NGS PANEL that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
NEMALINE MYOPATHY Panel
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By Laboratorio de Genetica Clinica SL NEMALINE MYOPATHY that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 NEB
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Nemaline Myopathy Type 2 , Sequencing NEB Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the NEB gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Nemaline Myopathy, Panel Massive Sequencing (NGS) 8 Genes Panel
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By Reference Laboratory Genetics Nemaline Myopathy, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 MTM1 NEB
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
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By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
planTrue Extended Panel
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By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel![](/img/flags/United-states.png)
planTrue Standard Panel
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By True Health Diagnostics planTrue Standard that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panel![](/img/flags/United-states.png)
planTrue Jewish Screen Panel
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By True Health Diagnostics planTrue Jewish Screen that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panel![](/img/flags/United-states.png)
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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