COL6A1 gene related symptoms and diseases
All the information presented here about the COL6A1 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 COL6A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Respiratory failure | Very Common - Between 80% and 100% cases |
| Torticollis | Very Common - Between 80% and 100% cases |
| Scoliosis | Very Common - Between 80% and 100% cases |
| Flexion contracture | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with COL6A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Muscle weakness
- Respiratory insufficiency due to muscle weakness
- Limb-girdle muscular dystrophy
- Failure to thrive
- Motor delay
- Myopathy
- Hyperkeratosis
- Kyphoscoliosis
And 83 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COL6A1 gene
Here you will find a list of rare diseases related to the COL6A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE
Alternate names
CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE Is also known as scleroatonic muscular dystrophy, ullrich disease, ucmd
Description
Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.
Most common symptoms of CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE
- Generalized hypotonia
- Scoliosis
- Micrognathia
- Muscle weakness
- Flexion contracture
More info about CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE
SOURCES: ORPHANET
BETHLEM MYOPATHY
Alternate names
BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy, benign autosomal dominant myopathy, ullrich disease, ullrich congenital muscular dystrophy, muscular dystrophy, scleroatonic, ucmd
Description
Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.
Most common symptoms of BETHLEM MYOPATHY
- Short stature
- Generalized hypotonia
- Scoliosis
- Growth delay
- Failure to thrive
More info about BETHLEM MYOPATHY
BETHLEM MYOPATHY 1; BTHLM1
Alternate names
BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital, bethlem myopathy, myopathy, benign congenital, with contractures
Most common symptoms of BETHLEM MYOPATHY 1; BTHLM1
- Generalized hypotonia
- Scoliosis
- Failure to thrive
- Muscle weakness
- Flexion contracture
More info about BETHLEM MYOPATHY 1; BTHLM1
SOURCES: OMIM
Search interest in COL6A1
Potential gene panels for COL6A1 gene
Congenital Muscular Dystrophy Advanced Sequencing Evaluation Panel
United States.
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 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.
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.
Congenital Muscular Dystrophy Panel
United States.
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 panel United States.
Limb-Girdle Muscular Dystrophy Panel
United States.
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 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 Muscular Dystrophy Deletion/Duplication Analysis Panel
United States.
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 panel United States.
Congenital Muscular Dystrophy Sequencing Panel Panel
United States.
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 panel United States.
Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis that also includes the following genes: RYR1 SELENON SYNE2 SYNE1 COL6A1 COL6A2 COL6A3 TMEM43 KLHL40 EMD
More info about this panel United States.
Congenital Myopathy with Prominent Contractures Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy with Prominent Contractures Sequencing Panel that also includes the following genes: RYR1 SELENON SYNE2 SYNE1 COL6A1 COL6A2 COL6A3 TMEM43 KLHL40 EMD
More info about this panel United States.
Bethlem Myopathy and Ullrich Muscular Dystrophy Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Bethlem Myopathy and Ullrich Muscular Dystrophy Sequencing Panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel United States.
COL6A1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL6A1 gene.
More info about this panel Spain.
COL6A1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL6A1 gene.
More info about this panel Spain.
Ullrich congenital muscular dystrophy (NGS panel for 3 genes) Panel
Portugal.
By CGC Genetics Ullrich congenital muscular dystrophy (NGS panel for 3 genes) that also includes the following genes: COL6A1 COL6A2 COL6A3
More info about this panel Portugal.
Bethlem myopathy (NGS panel of 3 genes) Panel
Portugal.
By CGC Genetics Bethlem myopathy (NGS panel of 3 genes) that also includes the following genes: COL6A1 COL6A2 COL6A3
More info about this panel Portugal.
Ullrich congenital muscular dystrophy (sequence analysis of COL6A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL6A1 gene.
More info about this panel Portugal.
Congenital muscular dystrophies (NGS panel for 31 genes) Panel
Portugal.
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 panel Portugal.
Bethlem myopathy (deletions/duplicaions analysis of COL6A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL6A1 gene.
More info about this panel Portugal.
Bethlem myopathy (deletions/duplicaions analysis of COL6A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL6A1 gene.
More info about this panel Portugal.
Type VI Collagenopathy via COL6A1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the COL6A1 gene.
More info about this panel United States.
Congenital Myopathy Sequencing Panel Panel
United States.
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 United States.
Type VI-Related Collagenopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Type VI-Related Collagenopathy Sequencing Panel with CNV Detection that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel United States.
Congenital Muscular Dystrophy Sequencing Panel Panel
United States.
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 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.
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel Panel
United States.
By Connective Tissue Gene Tests Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel United States.
Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel United States.
Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel Panel
United States.
By Connective Tissue Gene Tests Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel United States.
Ullrich congenital muscular dystrophy, Bethlem myopathy Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Ullrich congenital muscular dystrophy, Bethlem myopathy that also includes the following genes: COL6A1 COL6A2 COL6A3
More info about this panel Germany.
Myopathy – Rigid Spine Panel
Germany.
By MGZ Medical Genetics Center Myopathy – Rigid Spine that also includes the following genes: RYR1 SELENON COL6A1 COL6A2 COL6A3 EMD FHL1 GAA LAMA2 LMNA
More info about this panel Germany.
Collagen Type VI-Related Disorders Panel
Germany.
By MGZ Medical Genetics Center Collagen Type VI-Related Disorders that also includes the following genes: COL6A1 COL6A2 COL6A3
More info about this panel Germany.
Congenital Muscular Dystrophy, Collagen Type VI-Associated (Bethlem/Ullrich) and Phenocopies Panel
Germany.
By MGZ Medical Genetics Center Congenital Muscular Dystrophy, Collagen Type VI-Associated (Bethlem/Ullrich) and Phenocopies that also includes the following genes: TNXB FKBP14 COL12A1 COL6A1 COL6A2 COL6A3 PIEZO2
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 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.
Bethlem Panel Panel
United States.
By FirmaLab Bethlem Panel that also includes the following genes: COL6A1 COL6A2 COL6A3
More info about this panel United States.
Ullrich Congenital Muscular Dystrophy Panel
India.
By GeneTech ATS GeneTech Private Limited
This panel specifically test the COL6A1 gene.
More info about this panel India.
Bethlem myopathy panel Panel
Germany.
By Centogene AG - the Rare Disease Company Bethlem myopathy panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel Germany.
Ullrich congenital muscular dystrophy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL6A1 gene.
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.
Ullrich muscular dystrophy panel Panel
Germany.
By Centogene AG - the Rare Disease Company Ullrich muscular dystrophy panel that also includes the following genes: COL6A1 COL6A2 COL6A3
More info about this panel Germany.
Bethlem myopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL6A1 gene.
More info about this panel Germany.
Congenital and Distal Myopathies Panel Panel
Germany.
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 Germany.
Muscular Dystrophies Panel Panel
Germany.
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 panel Germany.
Bethlem myopathy Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Bethlem myopathy that also includes the following genes: COL6A1 COL6A2 COL6A3
More info about this panel Poland.
Congenital Myopathy and Distal Myopathy NGS panel Panel
Estonia.
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 Estonia.
COL6A1 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the COL6A1 gene.
More info about this panel Belgium.
BM/UCMD gene panel Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital BM/UCMD gene panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel Belgium.
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 Type VI Collagenopathy Panel Panel
United States.
By Invitae Invitae Type VI Collagenopathy Panel that also includes the following genes: COL6A1 COL6A2 COL6A3
More info about this panel United States.
Invitae Comprehensive Muscular Dystrophy Panel Panel
United States.
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 panel United States.
Invitae Congenital Muscular Dystrophy Panel Panel
United States.
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 panel United States.
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
United States.
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 United States.
Invitae Congenital Myopathy Panel Panel
United States.
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 United States.
Invitae Comprehensive Myopathy Panel Panel
United States.
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 United States.
DYSTROPHIES, CONGENITAL MUSCULAR Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTROPHIES, CONGENITAL MUSCULAR that also includes the following genes: SELENON FKRP POMGNT1 POMT2 COL6A1 COL6A2 COL6A3 FKTN ITGA7 LAMA2
More info about this panel Spain.
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the COL6A1 gene.
More info about this panel United States.
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: Sequencing Panel that also includes the following genes: COL6A1 COL6A2 COL6A3
More info about this panel United States.
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1-3 Gene Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1-3 Gene Deletion/Duplication Panel that also includes the following genes: COL6A1 COL6A2 COL6A3
More info about this panel United States.
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the COL6A1 gene.
More info about this panel United States.
Congenital Muscular Dystrophy: Deletion/Duplication Panel Panel
United States.
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 panel United States.
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel
United States.
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 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.
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel Panel
United States.
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 panel United States.
Congenital Muscular Dystrophy: Sequencing Panel Panel
United States.
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 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.
Neuromuscular NGS Panel Panel
United States.
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 United States.
Type VI Collagenopathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Type VI Collagenopathy NGS Panel that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel United States.
COL6A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL6A1 gene.
More info about this panel United States.
Collagen Type VI-Related Disorders Panel Panel
Finland.
By Blueprint Genetics Collagen Type VI-Related Disorders Panel that also includes the following genes: COL12A1 COL4A1 COL4A2 COL6A1 COL6A2 COL6A3
More info about this panel Finland.
Comprehensive Muscular Dystrophy / Myopathy Panel Panel
Finland.
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 Finland.
Bethlem Myopathy Panel
Spain.
By Bioarray
This panel specifically test the COL6A1 gene.
More info about this panel Spain.
Ullrich Congenital Muscular Dystrophy Panel
Spain.
By Bioarray
This panel specifically test the COL6A1 gene.
More info about this panel Spain.
BETHLEM MYOPATHY Panel
Spain.
By Laboratorio de Genetica Clinica SL BETHLEM MYOPATHY that also includes the following genes: COL6A1 COL6A2 COL6A3
More info about this panel Spain.
BETHLEM MYOPATHY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL BETHLEM MYOPATHY NGS PANEL that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel Spain.
MUSCULAR DYSTROPHY, ULLRICH Panel
Spain.
By Laboratorio de Genetica Clinica SL MUSCULAR DYSTROPHY, ULLRICH that also includes the following genes: COL6A1 COL6A2 COL6A3
More info about this panel Spain.
ULLRICH CONGENITAL MUSCULAR DYSTROPHY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ULLRICH CONGENITAL MUSCULAR DYSTROPHY NGS PANEL that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel Spain.
Myopathy Type Bethlem, Sequencing COL6A1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL6A1 gene.
More info about this panel Spain.
Ullrich Congenital Muscular Dystrophy , Sequencing COL6A1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL6A1 gene.
More info about this panel Spain.
Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SELENON FKRP POMGNT1 POMT2 COL6A1 COL6A2 COL6A3 FKTN ITGA7 LAMA2
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.
Myopathy Type Bethlem, Panel Sequencing Massive (NGS) 4 Genes Panel
Spain.
By Reference Laboratory Genetics Myopathy Type Bethlem, Panel Sequencing Massive (NGS) 4 Genes that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel Spain.
Ullrich Congenital Muscular Dystrophy , Panel Massive Sequencing (NGS) COL6A1,COL6A2,COL6A3,COL12A1 Genes Panel
Spain.
By Reference Laboratory Genetics Ullrich Congenital Muscular Dystrophy , Panel Massive Sequencing (NGS) COL6A1,COL6A2,COL6A3,COL12A1 Genes that also includes the following genes: COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MT-ND6 SON ITK ALX4 G6PD