ISPD gene related symptoms and diseases
All the information presented here about the ISPD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ISPD gene
Symptoms // Phenotype | % Cases |
---|---|
Pachygyria | Common - Between 50% and 80% cases |
Congenital muscular dystrophy | Common - Between 50% and 80% cases |
Generalized hypotonia | Common - Between 50% and 80% cases |
Heterotopia | Common - Between 50% and 80% cases |
Intellectual disability | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ISPD gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Ventriculomegaly
- Elevated serum creatine phosphokinase
Not very common - Between 30% and 50% cases
- Retinal detachment
- Hypoplasia of the corpus callosum
- Hydrocephalus
- Microphthalmia
- Areflexia
- Cerebellar hypoplasia
And 133 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ISPD gene
Here you will find a list of rare diseases related to the ISPD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2U
Alternate names
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2U Is also known as autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency, lgmd2u, lgmdr20, muscular dystrophy, limb-girdle, autosomal recessive 20, muscular dystrophy, limb-girdle, type 2u
Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2U
- Muscle weakness
- Pain
- Skeletal muscle atrophy
- Encephalopathy
- Elevated serum creatine phosphokinase
More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2U
WALKER-WARBURG SYNDROME
Alternate names
WALKER-WARBURG SYNDROME Is also known as hard syndrome, cerebroocular dysplasia-muscular dystrophy syndrome, hydrocephalus, agyria, and retinal dysplasia, walker-warburg syndrome or muscle-eye-brain disease, pomt1-related, wws, hydrocephalus-agyria-retinal dysplasia syndrome, cod-md syndrome
Description
Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.
Most common symptoms of WALKER-WARBURG SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about WALKER-WARBURG SYNDROME
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7
Alternate names
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related
Description
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).
Most common symptoms of MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7
- Intellectual disability
- Generalized hypotonia
- Cataract
- Low-set ears
- Macrocephaly
More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7
SOURCES: OMIM
CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY
Alternate names
CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY Is also known as cmd without intellectual disability, cmd-no mr, congenital muscular dystrophy-dystroglycanopathy without intellectual disability
Description
Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.
Most common symptoms of CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY
- Intellectual disability
- Generalized hypotonia
- Microcephaly
- Motor delay
- Ventriculomegaly
More info about CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY
SOURCES: ORPHANET
Search interest in ISPD
Potential gene panels for ISPD gene
Muscular Dystrophy Advanced Evaluation Panel
By Athena Diagnostics Inc Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CCDC78 CAPN3 DNAJB6
More info about this panelCongenital Muscular Dystrophy Advanced Sequencing Evaluation Panel
By Athena Diagnostics Inc Congenital Muscular Dystrophy Advanced Sequencing Evaluation that also includes the following genes: TCAP RXYLT1 B4GAT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panelNeuromuscular Disorders Panel Panel
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 panelComprehensive Neuromuscular Panel Panel
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 panelCongenital Muscular Dystrophy Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Muscular Dystrophy that also includes the following genes: RYR1 TCAP SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2 COL6A3
More info about this panelLimb-Girdle Muscular Dystrophy Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Limb-Girdle Muscular Dystrophy that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3
More info about this panelNeuromuscular Disorders Sequencing Panel Panel
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 panelLissencephaly Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Lissencephaly Sequencing Panel that also includes the following genes: SNAP29 TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1 CDK5 FKRP
More info about this panelComprehensive Lissencephaly Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Lissencephaly Panel that also includes the following genes: SNAP29 TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 CDK5 FKRP ARX
More info about this panelCobblestone Lissencephaly Panel Panel
By Genetic Services Laboratory University of Chicago Cobblestone Lissencephaly Panel that also includes the following genes: SNAP29 RXYLT1 B4GAT1 FKRP ATP6V0A2 POMGNT1 POMT2 GMPPB SRD5A3 POMK
More info about this panelCongenital Muscular Dystrophy Deletion/Duplication Analysis Panel
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy Deletion/Duplication Analysis that also includes the following genes: RYR1 RXYLT1 SELENON SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panelCongenital Muscular Dystrophy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RYR1 RXYLT1 SELENON SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panelLimb-Girdle Muscular Dystrophy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Limb-Girdle Muscular Dystrophy Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb-Girdle Muscular Dystrophy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelCongenital Muscular Dystrophy- Dystroglycanopathy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy- Dystroglycanopathy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK DAG1 B3GALNT2
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelLissencephaly Panel Panel
By GeneDx Lissencephaly Panel that also includes the following genes: VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1 FKRP ARX ATP6V0A2 POMGNT1
More info about this panelWalker-Warburg syndrome (sequence analysis of ISPD gene) Panel
By CGC Genetics
This panel specifically test the ISPD gene.
More info about this panelCongenital muscular dystrophies (NGS panel for 31 genes) Panel
By CGC Genetics Congenital muscular dystrophies (NGS panel for 31 genes) that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1
More info about this panelISPD Sequencing Panel
By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics
This panel specifically test the ISPD gene.
More info about this panelWalker-Warburg Syndrome via Isoprenoid Synthase Domain Containing (ISPD) Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ISPD gene.
More info about this panelDystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK DAG1 B3GALNT2
More info about this panelLimb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 DNAJB6
More info about this panelComprehensive Vitreoretinopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection that also includes the following genes: ATOH7 CAPN5 RCBTB1 ATP6V0A2 ZNF408 TSPAN12 VCAN CTNNB1 ISPD FZD4
More info about this panelCongenital Muscular Dystrophy Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 CHKB POMT2 COL12A1 COL6A1 COL6A2 COL6A3
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelComprehensive Neuromuscular Sequencing Panel Panel
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 panelLimb girdle muscular dystrophy Comprehensive panel Panel
By Connective Tissue Gene Tests Limb girdle muscular dystrophy Comprehensive panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb girdle muscular dystrophy Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Limb girdle muscular dystrophy Deletion / Duplication panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLimb girdle muscular dystrophy NGS panel Panel
By Connective Tissue Gene Tests Limb girdle muscular dystrophy NGS panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelLissencephaly and related disorders NGS test Panel
By Connective Tissue Gene Tests Lissencephaly and related disorders NGS test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panelLissencephaly and related disorders Deletion / Duplication test Panel
By Connective Tissue Gene Tests Lissencephaly and related disorders Deletion / Duplication test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panelLissencephaly and related disorders Comprehensive test Panel
By Connective Tissue Gene Tests Lissencephaly and related disorders Comprehensive test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panelMuscular dystrophy, dystroglycanopathy Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Muscular dystrophy, dystroglycanopathy that also includes the following genes: RXYLT1 B3GNT2 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK B3GALNT2 FKTN
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelAlpha-Dystroglycanopathy Panel
By MGZ Medical Genetics Center Alpha-Dystroglycanopathy that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK B3GALNT2 FKTN
More info about this panelMuscle Disease with CNS Involvement Panel
By MGZ Medical Genetics Center Muscle Disease with CNS Involvement that also includes the following genes: SNAP25 TTN RXYLT1 CCDC78 MICU1 B4GAT1 SYNE1 FKRP POMGNT1 CHKB
More info about this panelNewborn: “Floppy Infant “ Panel
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 panelMuscle Weakness (Myopathy, Muscular Dystrophy) Panel
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 panelWalker-Warburg syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ISPD gene.
More info about this panelAllNeuro panel Panel
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 panelWalker-Warburg syndrome panel Panel
By Centogene AG - the Rare Disease Company Walker-Warburg syndrome panel that also includes the following genes: FKRP POMT2 FKTN ISPD POMT1
More info about this panelNeuronal Migration Disorders Panel Panel
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panelNeuronal Migration Disorders Panel Panel
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panelWalker-Warburg Syndrome Panel Panel
By CeGaT GmbH Walker-Warburg Syndrome Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 COL4A1 GMPPB POMGNT2 POMK DAG1
More info about this panelMuscular Dystrophies Panel Panel
By CeGaT GmbH Muscular Dystrophies Panel that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1
More info about this panelLimb-Girdle Muscular Dystrophies Panel Panel
By CeGaT GmbH Limb-Girdle Muscular Dystrophies Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelSingle gene testing ISPD Panel
By CeGaT GmbH
This panel specifically test the ISPD gene.
More info about this panelBrain malformations Panel
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panelLimb-Girdle Muscular Dystrophy Panel
By Asper Biogene Asper Biogene LLC Limb-Girdle Muscular Dystrophy that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelDevelopmental Eye Disease panel Panel
By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1
More info about this panelInvitae Comprehensive Neuromuscular Disorders Panel Panel
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 panelInvitae Dystroglycanopathy Panel Panel
By Invitae Invitae Dystroglycanopathy Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK DAG1 B3GALNT2
More info about this panelInvitae Comprehensive Muscular Dystrophy Panel Panel
By Invitae Invitae Comprehensive Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN RXYLT1 CAPN3 DNAJB6
More info about this panelInvitae Congenital Muscular Dystrophy Panel Panel
By Invitae Invitae Congenital Muscular Dystrophy Panel that also includes the following genes: TCAP RXYLT1 B4GAT1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2 COL6A3
More info about this panelInvitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
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 panelInvitae Limb-Girdle Muscular Dystrophy Panel Panel
By Invitae Invitae Limb-Girdle Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelCongenital disorder of O-linked glycosylation (CDG) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of O-linked glycosylation (CDG) that also includes the following genes: XYLT1 B4GAT1 HES7 CHSY1 B3GALT6 FKRP POMGNT1 CHST3 POMT2 B3GLCT
More info about this panelWalker-Warburg Syndrome Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Walker-Warburg Syndrome that also includes the following genes: FKRP POMGNT1 POMT2 FKTN ISPD LARGE1 POMT1
More info about this panelGlaucoma (Advance) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2
More info about this panelDYSTROGLYCANOPATHY Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTROGLYCANOPATHY that also includes the following genes: B4GAT1 FKRP POMGNT1 POMT2 COL4A1 DAG1 DPM3 FKTN ISPD LARGE1
More info about this panelCongenital Muscular Dystrophy: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Muscular Dystrophy: Deletion/Duplication Panel that also includes the following genes: RYR1 TCAP RXYLT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panelNeuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel
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 panelExpanded Neuromuscular Disorders: Sequencing Panel Panel
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 panelLimb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3
More info about this panelCongenital Muscular Dystrophy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Muscular Dystrophy: Sequencing Panel that also includes the following genes: RYR1 TCAP RXYLT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panelExpanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
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 panelGlaucoma NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2
More info about this panelDystroglycan-Related Congenital Muscular Dystrophy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Dystroglycan-Related Congenital Muscular Dystrophy NGS Panel that also includes the following genes: B4GAT1 FKRP POMGNT1 POMT2 POMGNT2 DAG1 DPM1 DPM3 FKTN ISPD
More info about this panelLimb-Girdle Muscular Dystrophy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Limb-Girdle Muscular Dystrophy NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelISPD Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ISPD gene.
More info about this panelCardiomyopathy Panel Panel
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panelLissencephaly Panel Panel
By Blueprint Genetics Lissencephaly Panel that also includes the following genes: TUBG1 VLDLR YWHAE ACTB ACTG1 ARX ATP6V0A2 TUBA1A POMGNT2 DCX
More info about this panelLGMD and Congenital Muscular Dystrophy Panel Panel
By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelComprehensive Muscular Dystrophy / Myopathy Panel Panel
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 panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelNeuronal Migration Disorder Panel Panel
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panelWALKER - WALBURG SYNDROME NGS PANEL Panel
By Laboratorio de Genetica Clinica SL WALKER - WALBURG SYNDROME NGS PANEL that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 POMGNT2 POMK DAG1 B3GALNT2 FKTN
More info about this panelMUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL that also includes the following genes: SGCA SGCB SGCD SGCG BVES TCAP MYOT TTN CAPN3 DNAJB6
More info about this panelWalker-Warburg Syndrome , Panel Massive Sequencing 13 Genes Panel
By Reference Laboratory Genetics Walker-Warburg Syndrome , Panel Massive Sequencing 13 Genes that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMK DAG1 B3GALNT2 FKTN
More info about this panelDystroglycanopathies , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Dystroglycanopathies , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: B4GAT1 FKRP POMGNT1 POMT2 DAG1 FKTN ISPD LARGE1 POMT1
More info about this panelMuscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
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
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