RAPSN gene related symptoms and diseases
All the information presented here about the RAPSN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RAPSN gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ptosis | Common - Between 50% and 80% cases |
| High palate | Common - Between 50% and 80% cases |
| Hypertelorism | Common - Between 50% and 80% cases |
| Fatigable weakness | Common - Between 50% and 80% cases |
| Micrognathia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with RAPSN gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Muscle weakness
- Low-set ears
- Flexion contracture
- Skeletal muscle atrophy
- Arthrogryposis multiplex congenita
- Decreased fetal movement
- Easy fatigability
Not very common - Between 30% and 50% cases
- Generalized hypotonia
And 144 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RAPSN gene
Here you will find a list of rare diseases related to the RAPSN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11
Alternate names
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly, myasthenic syndrome, congenital, ie, formerly, cms ie, formerly
Description
Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).
Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11
- Generalized hypotonia
- Hypertelorism
- Micrognathia
- Muscle weakness
- Ptosis
More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C
Alternate names
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C Is also known as cms id, formerly, myasthenia, familial infantile, 1, formerly, myasthenic syndrome, congenital, type id, cms1d, formerly, fim1, formerly
Description
Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (OMIM ) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).
Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C
- Generalized hypotonia
- Strabismus
- Muscle weakness
- Muscular hypotonia
- Ptosis
More info about MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C
SOURCES: OMIM
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
FETAL AKINESIA DEFORMATION SEQUENCE
Alternate names
FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome, arthrogryposis multiplex congenita with pulmonary hypoplasia, fads, pena-shokeir syndrome type 1, fetal akinesia sequence, pena-shokeir syndrome, type i
Description
The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.
Most common symptoms of FETAL AKINESIA DEFORMATION SEQUENCE
- Scoliosis
- Growth delay
- Hypertelorism
- Micrognathia
- Cleft palate
More info about FETAL AKINESIA DEFORMATION SEQUENCE
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
Most common symptoms of POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
- Scoliosis
- Muscle weakness
- Ptosis
- High palate
- Skeletal muscle atrophy
More info about POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
SOURCES: ORPHANET
Search interest in RAPSN
Potential gene panels for RAPSN gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
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 United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
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 United States.
Congenital Myasthenic Syndrome Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Congenital Myasthenic Syndrome Advanced Sequencing Evaluation that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 DPAGT1 AGRN
More info about this panel United States.
Neuromuscular Disorders Panel Panel
United States.
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 United States.
Congenital Contractures Panel Panel
United States.
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 United States.
Comprehensive Neuromuscular Panel Panel
United States.
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 United States.
Neuromuscular Disorders Sequencing Panel Panel
United States.
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 United States.
Congenital Myasthenic Syndrome Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Sequencing Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ
More info about this panel United States.
Congenital Myasthenic Syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Deletion/Duplication Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ
More info about this panel United States.
RAPSN. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RAPSN gene.
More info about this panel Spain.
CHRNA1, CHAT, CHRNE, RAPSN, DOK7, COLQ. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica CHRNA1, CHAT, CHRNE, RAPSN, DOK7, COLQ. NextGeneDx.Complete sequencing by NGS that also includes the following genes: CHAT CHRNA1 CHRNE COLQ DOK7 RAPSN
More info about this panel Spain.
Myasthenic syndrome, congenital (NGS panel for 17genes) Panel
Portugal.
By CGC Genetics Myasthenic syndrome, congenital (NGS panel for 17genes) that also includes the following genes: SCN4A SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7
More info about this panel Portugal.
Myasthenic syndrome, congenital (sequence analysis of RAPSN gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RAPSN gene.
More info about this panel Portugal.
Myasthenic syndrome fast channel congenital (NGS panel for 8 genes) Panel
Portugal.
By CGC Genetics Myasthenic syndrome fast channel congenital (NGS panel for 8 genes) that also includes the following genes: CHRNA1 CHRNB1 CHRND CHRNE CHRNG AGRN MUSK RAPSN
More info about this panel Portugal.
RAPSN-Related Congenital Myasthenic Syndrome Panel
Belgium.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the RAPSN gene.
More info about this panel Belgium.
Rapsyn-Related Disorders via RAPSN Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RAPSN gene.
More info about this panel United States.
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection that also includes the following genes: CHRNA1 CHRND CHRNE CHRNG CNTN1 COLQ DOK7 KLHL40 GLE1 MUSK
More info about this panel United States.
Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN4A SNAP25 STIM1 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7
More info about this panel United States.
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection that also includes the following genes: RIT1 SCN5A SLC17A5 BRAF SOS1 CBL SHOC2 KAT6B CHRNA1 CHRND
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
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 United States.
Congenital contracture syndrome extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel United States.
Congenital contracture syndrome extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel United States.
Congenital contracture syndrome extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1
More info about this panel United States.
Lethal congenital contracture syndrome and related disorders Comprehensive Panel Panel
United States.
By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Comprehensive Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6
More info about this panel United States.
Lethal congenital contracture syndrome and related disorders NGS Panel Panel
United States.
By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders NGS Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6
More info about this panel United States.
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel
United States.
By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6
More info about this panel United States.
Fetal akinesia deformation sequence / congenital myasthenia Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Fetal akinesia deformation sequence / congenital myasthenia that also includes the following genes: CHRNA1 CHRND CHRNE CHRNG COLQ DOK7 MUSK RAPSN
More info about this panel Germany.
RAPSN-Related Congenital Myasthenic Syndrome Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the RAPSN gene.
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Congenital Myasthenic Syndrome (CMS) Panel
Germany.
By MGZ Medical Genetics Center Congenital Myasthenic Syndrome (CMS) that also includes the following genes: SNAP25 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 ALG14
More info about this panel Germany.
Newborn: “Floppy Infant “ Panel
Germany.
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 Germany.
Muscle Disease with Contractures and/or Rigid Spine Panel
Germany.
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 Germany.
Muscle Disease with Ptosis / External Ophthalmoplegia Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with Ptosis / External Ophthalmoplegia that also includes the following genes: RYR1 SLC25A4 TWNK RRM2B CHAT KIF21A CHRNA1 CHRNB1 CHRND CHRNE
More info about this panel Germany.
Newborn: Neonatal Apneas Panel
Germany.
By MGZ Medical Genetics Center Newborn: Neonatal Apneas that also includes the following genes: SCN4A SLC6A5 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ LAS1L GLRA1
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
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 Germany.
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
Germany.
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 Germany.
Congenital Myasthenic Syndrome Panel Panel
United States.
By FirmaLab Congenital Myasthenic Syndrome Panel that also includes the following genes: CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 MUSK RAPSN
More info about this panel United States.
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RAPSN gene.
More info about this panel Germany.
Fetal akinesia deformation sequence Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RAPSN gene.
More info about this panel Germany.
Congenital myasthenic syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Congenital myasthenic syndrome panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7 AGRN
More info about this panel Germany.
AllNeuro panel Panel
Germany.
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 Germany.
Fetal akinesia deformation sequence Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum Fetal akinesia deformation sequence that also includes the following genes: DOK7 RAPSN
More info about this panel Germany.
Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel
Germany.
By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN
More info about this panel Germany.
Single gene testing RAPSN Panel
Germany.
By CeGaT GmbH
This panel specifically test the RAPSN gene.
More info about this panel Germany.
Fetal akinesia deformation sequence Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the RAPSN gene.
More info about this panel Austria.
Myasthenic syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the RAPSN gene.
More info about this panel Austria.
Fetal akinesia deformation sequence Panel
Slovakia.
By MedGene
This panel specifically test the RAPSN gene.
More info about this panel Slovakia.
Myasthenic syndrome Panel
Slovakia.
By MedGene
This panel specifically test the RAPSN gene.
More info about this panel Slovakia.
Invitae Comprehensive Neuromuscular Disorders Panel Panel
United States.
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 United States.
Invitae Congenital Myasthenic Syndrome Panel Panel
United States.
By Invitae Invitae Congenital Myasthenic Syndrome Panel that also includes the following genes: CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 DPAGT1 AGRN
More info about this panel United States.
Pena-Shokeir syndrome type 1: RAPSN gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RAPSN gene.
More info about this panel Spain.
Myasthenic, Congenital: CHRNA1 (G153S), CHAT (I305T), RAPSN (N88K) and CHRNE (1267delG, 1293insG) genes mutations analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Myasthenic, Congenital: CHRNA1 (G153S), CHAT (I305T), RAPSN (N88K) and CHRNE (1267delG, 1293insG) genes mutations analysis that also includes the following genes: CHAT CHRNA1 CHRNE RAPSN
More info about this panel Spain.
Myasthenic, Congenital: RAPSN gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RAPSN gene.
More info about this panel Spain.
Congenital Myasthenic Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital Myasthenic that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 AGRN GFPT1
More info about this panel Spain.
Congenital Myasthenic Syndromes: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Myasthenic Syndromes: Sequencing Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 MUSK
More info about this panel United States.
Expanded Neuromuscular Disorders: Sequencing Panel Panel
United States.
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 United States.
Congenital Myasthenic Syndromes: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Myasthenic Syndromes: Deletion/Duplication Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 MUSK
More info about this panel United States.
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
United States.
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 United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Congenital Myasthenic Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Congenital Myasthenic Syndrome NGS Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 AGRN GFPT1
More info about this panel United States.
RAPSN Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RAPSN gene.
More info about this panel United States.
Congenital Myasthenic Syndromes Panel Panel
Finland.
By Blueprint Genetics Congenital Myasthenic Syndromes Panel that also includes the following genes: SCN4A STIM1 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ FLAD1
More info about this panel Finland.
Central Hypoventilation and Apnea Panel Panel
Finland.
By Blueprint Genetics Central Hypoventilation and Apnea Panel that also includes the following genes: SCN4A SLC6A5 ZEB2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ EDN3
More info about this panel Finland.
Arthrogryposes Panel Panel
Finland.
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 Finland.
Comprehensive Pulmonology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7
More info about this panel Finland.
Congenital myasthenic syndrome Panel
Spain.
By Bioarray
This panel specifically test the RAPSN gene.
More info about this panel Spain.
ARTHROGRYPOSIS MULTIPLEX CONGENITA, PENA-SHOKEIR SYNDROME TYPE 1 Panel
Spain.
By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS MULTIPLEX CONGENITA, PENA-SHOKEIR SYNDROME TYPE 1 that also includes the following genes: DOK7 RAPSN
More info about this panel Spain.
MYASTHENIC SYNDROME WITH RAPSYN DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the RAPSN gene.
More info about this panel Spain.
PENA-SHOKEIR SYNDROME TYPE 1 (ARTHROGRYPOSIS MULTIPLEX CONGENITA) Panel
Spain.
By Laboratorio de Genetica Clinica SL PENA-SHOKEIR SYNDROME TYPE 1 (ARTHROGRYPOSIS MULTIPLEX CONGENITA) that also includes the following genes: DOK7 RAPSN
More info about this panel Spain.
MYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MYASTHENIC SYNDROME, CONGENITAL NGS PANEL that also includes the following genes: SCN4A SLC18A3 SYT2 SLC5A7 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1
More info about this panel Spain.
ARTHROGRYPOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ARTHROGRYPOSIS NGS PANEL that also includes the following genes: TNNI2 TNNT3 TPM2 UBA1 VPS33B SYNE1 FKBP10 NALCN VIPAS39 ZC4H2
More info about this panel Spain.
Congenital Myasthenia , Sequencing RAPSN Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RAPSN gene.
More info about this panel Spain.
Pena-Shokeir Type 1 Syndrome, Sequencing RAPSN Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RAPSN gene.
More info about this panel Spain.
Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 AGRN GFPT1
More info about this panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
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 Spain.
Pena-Shokeir Type 1 Syndrome, Panel Massive Sequencing (NGS) DOK7, RAPSN, MUSK Genes Panel
Spain.
By Reference Laboratory Genetics Pena-Shokeir Type 1 Syndrome, Panel Massive Sequencing (NGS) DOK7, RAPSN, MUSK Genes that also includes the following genes: DOK7 MUSK RAPSN
More info about this panel Spain.
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