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.

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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

SOURCES: ORPHANET OMIM

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


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Bethlem Panel Panel

United States.

By FirmaLab Bethlem Panel that also includes the following genes: COL6A1 COL6A2 COL6A3

More info about this panel

Ullrich Congenital Muscular Dystrophy Panel

India.

By GeneTech ATS GeneTech Private Limited

This panel specifically test the COL6A1 gene.

More info about this panel

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

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

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

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

Bethlem myopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COL6A1 gene.

More info about this panel

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

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

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

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

COL6A1 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the COL6A1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

COL6A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL6A1 gene.

More info about this panel

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

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

Bethlem Myopathy Panel

Spain.

By Bioarray

This panel specifically test the COL6A1 gene.

More info about this panel

Ullrich Congenital Muscular Dystrophy Panel

Spain.

By Bioarray

This panel specifically test the COL6A1 gene.

More info about this panel

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

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

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

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

Myopathy Type Bethlem, Sequencing COL6A1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the COL6A1 gene.

More info about this panel

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

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

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

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

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


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