COL11A2 gene related symptoms and diseases
All the information presented here about the COL11A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COL11A2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Common - Between 50% and 80% cases |
| Myopia | Common - Between 50% and 80% cases |
| Micrognathia | Common - Between 50% and 80% cases |
| Midface retrusion | Uncommon - Between 30% and 50% cases |
| Malar flattening | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with COL11A2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Anteverted nares
- Sensorineural hearing impairment
- Cleft palate
- Depressed nasal bridge
- Platyspondyly
- Glossoptosis
- Pierre-Robin sequence
- Osteoarthritis
And 142 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COL11A2 gene
Here you will find a list of rare diseases related to the COL11A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53
Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53
- Hearing impairment
- Sensorineural hearing impairment
More info about DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53
DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13
Most common symptoms of DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13
- Hearing impairment
- Sensorineural hearing impairment
- Progressive hearing impairment
More info about DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13
WEISSENBACHER- ZWEYMULLER SYNDROME
Alternate names
WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous otospondylomegaepiphyseal dysplasia, heterozygous osmed, pierre robin sequence-fetal chondrodysplasia syndrome, pierre robin syndrome-fetal chondrodysplasia syndrome
Description
Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.
Most common symptoms of WEISSENBACHER- ZWEYMULLER SYNDROME
- Hypertelorism
- Micrognathia
- Muscular hypotonia
- Cleft palate
- Delayed speech and language development
More info about WEISSENBACHER- ZWEYMULLER SYNDROME
SOURCES: ORPHANET
STICKLER SYNDROME TYPE 3
Alternate names
STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2, stickler syndrome, beaded vitreous type, stickler syndrome, non-ocular type
Description
Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
Most common symptoms of STICKLER SYNDROME TYPE 3
- Hearing impairment
- Micrognathia
- Sensorineural hearing impairment
- Cleft palate
- Cataract
More info about STICKLER SYNDROME TYPE 3
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA
Alternate names
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous, weissenbacher-zweymuller syndrome, pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly, stl3, formerly, stickler syndrome, type iii, formerly, wzs
Description
Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).
Most common symptoms of OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA
- Hearing impairment
- Micrognathia
- Sensorineural hearing impairment
- Cleft palate
- Myopia
More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA
SOURCES: OMIM
FIBROCHONDROGENESIS
Description
Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.
Most common symptoms of FIBROCHONDROGENESIS
- Short stature
- Hearing impairment
- Hypertelorism
- Micrognathia
- Cleft palate
More info about FIBROCHONDROGENESIS
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA
Alternate names
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness, weissenbacher-zweymuller syndrome, formerly, nance-insley syndrome, osmed, nance-sweeney chondrodysplasia, wzs, formerly
Description
Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
Most common symptoms of OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA
- Short stature
- Generalized hypotonia
- Hearing impairment
- Hypertelorism
- Micrognathia
More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA
FIBROCHONDROGENESIS 2; FBCG2
Description
Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012).For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (OMIM ).
Most common symptoms of FIBROCHONDROGENESIS 2; FBCG2
- Hearing impairment
- Micrognathia
- Myopia
- Macrocephaly
- Anteverted nares
More info about FIBROCHONDROGENESIS 2; FBCG2
SOURCES: OMIM
AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA
Alternate names
AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA Is also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, autosomal dominant isolated sensorineural deafness type dfna, autosomal dominant isolated sensorineural hearing loss type dfna, autosomal dominant isolated neurosensory deafness type dfna
More info about AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA
SOURCES: ORPHANET
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB
Alternate names
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB Is also known as autosomal recessive isolated sensorineural deafness type dfnb, autosomal recessive isolated neurosensory deafness type dfnb, autosomal recessive non-syndromic neurosensory deafness type dfnb
More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB
SOURCES: ORPHANET
Search interest in COL11A2
Potential gene panels for COL11A2 gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel United States.
Lysosomal Storage Disease Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1
More info about this panel United States.
NGS Hearing Loss Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A
More info about this panel United States.
Stickler Syndrome Types 1, 2, and 3 (COL2A1, COL11A1, COL11A2) Panel
United States.
By Center for Human Genetics, Inc Stickler Syndrome Types 1, 2, and 3 (COL2A1, COL11A1, COL11A2) that also includes the following genes: COL11A1 COL11A2
More info about this panel United States.
Connective Tissue Disorders 22-gene panel Panel
United States.
By Center for Human Genetics, Inc Connective Tissue Disorders 22-gene panel that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TGFBR3 ACTA2 NTM COL11A1 COL11A2 COL1A2 COL3A1
More info about this panel United States.
OtoSCOPE Panel
United States.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panel United States.
Hearing Loss Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panel United States.
OtoGenome Test for Hearing Loss (110 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panel United States.
Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication that also includes the following genes: SMPX TECTA TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN CDH23 ACTG1
More info about this panel United States.
Connective Tissue Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panel United States.
Stickler Syndrome Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Stickler Syndrome Panel that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2 COL9A3
More info about this panel United States.
FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TRIP11 EVC2 COL11A1 COL11A2 COMP EVC FGFR2
More info about this panel Spain.
COL11A1, COL11A2, COL2A1. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica COL11A1, COL11A2, COL2A1. NextGeneDx.Complete sequencing by NGS that also includes the following genes: COL11A1 COL11A2
More info about this panel Spain.
COL11A2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL11A2 gene.
More info about this panel Spain.
Stickler syndrome Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Stickler syndrome Seq + Del/Dup Panel that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel United States.
Stickler syndrome Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Stickler syndrome Del/Dup Panel that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel United States.
Stickler Syndrome Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Stickler Syndrome Seq Analysis that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel United States.
Audiome (hearing loss panel) Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panel United States.
Weissenbacher-Zweymuller Syndrome (sequence analysis of COL11A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL11A2 gene.
More info about this panel Portugal.
Stickler syndrome type III (sequence analysis of COL11A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL11A2 gene.
More info about this panel Portugal.
Syndromic deafness (NGS panel for 62 genes) Panel
Portugal.
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Portugal.
Non syndromic deafness AD (NGS panel for 33 genes) Panel
Portugal.
By CGC Genetics Non syndromic deafness AD (NGS panel for 33 genes) that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8
More info about this panel Portugal.
Non syndromic deafness AR and XL (NGS panel for 56 genes) Panel
Portugal.
By CGC Genetics Non syndromic deafness AR and XL (NGS panel for 56 genes) that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2
More info about this panel Portugal.
Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel
Portugal.
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panel Portugal.
Skeletal dysplasia (NGS panel for 31 genes) Panel
Portugal.
By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1
More info about this panel Portugal.
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel
Portugal.
By CGC Genetics Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) that also includes the following genes: SIX1 SLC12A1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WFS1 ESPN
More info about this panel Portugal.
Deafness, autosomal dominant 13 (sequence analysis of COL11A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL11A2 gene.
More info about this panel Portugal.
Stickler syndrome (NGS panel for 5 genes) Panel
Portugal.
By CGC Genetics Stickler syndrome (NGS panel for 5 genes) that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel Portugal.
Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via COL11A2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the COL11A2 gene.
More info about this panel United States.
Stickler Syndrome Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Stickler Syndrome Sequencing Panel that also includes the following genes: LOXL3 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN LRP2
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Cleft lip, cleft palate and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders NGS panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel United States.
Cleft lip, cleft palate and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders Deletion / Duplication panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel United States.
Cleft lip, cleft palate and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders Comprehensive panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel United States.
Fibrochondrogenesis NGS panel Panel
United States.
By Connective Tissue Gene Tests Fibrochondrogenesis NGS panel that also includes the following genes: COL11A1 COL11A2
More info about this panel United States.
Fibrochondrogenesis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Fibrochondrogenesis Comprehensive panel that also includes the following genes: COL11A1 COL11A2
More info about this panel United States.
Fibrochondrogenesis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Fibrochondrogenesis Deletion / Duplication panel that also includes the following genes: COL11A1 COL11A2
More info about this panel United States.
Skeletal dysplasia extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended NGS panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel United States.
Stickler syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Stickler syndrome Comprehensive panel that also includes the following genes: LOXL3 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN
More info about this panel United States.
Vitreoretinopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Vitreoretinopathy Comprehensive panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panel United States.
Skeletal dysplasia core & extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended Comprehensive panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Skeletal dysplasia core & extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Vitreoretinopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Vitreoretinopathy Deletion / Duplication panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panel United States.
Stickler syndrome core Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Stickler syndrome core Comprehensive panel that also includes the following genes: COL11A1 COL11A2
More info about this panel United States.
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel United States.
Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel
United States.
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel United States.
Skeletal dysplasia core & extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Stickler syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Stickler syndrome Deletion / Duplication panel that also includes the following genes: LOXL3 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN
More info about this panel United States.
Stickler syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Stickler syndrome NGS panel that also includes the following genes: LOXL3 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN
More info about this panel United States.
Skeletal dysplasia extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia extended Deletion / Duplication panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel United States.
Stickler syndrome core Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Stickler syndrome core Deletion / Duplication panel that also includes the following genes: COL11A1 COL11A2
More info about this panel United States.
Vitreoretinopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Vitreoretinopathy NGS panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panel United States.
Stickler syndrome core NGS panel Panel
United States.
By Connective Tissue Gene Tests Stickler syndrome core NGS panel that also includes the following genes: COL11A1 COL11A2
More info about this panel United States.
Stickler syndrome, type III Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL11A2 gene.
More info about this panel United States.
Otospondylomegaepiphyseal dysplasia Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL11A2 gene.
More info about this panel United States.
Stickler syndrome, type III Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL11A2 gene.
More info about this panel United States.
Otospondylomegaepiphyseal dysplasia Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL11A2 gene.
More info about this panel United States.
Fibrochondrogenesis 2 NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL11A2 gene.
More info about this panel United States.
Stickler syndrome, type III NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL11A2 gene.
More info about this panel United States.
Fibrochondrogenesis 2 Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL11A2 gene.
More info about this panel United States.
Fibrochondrogenesis 2 Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL11A2 gene.
More info about this panel United States.
Otospondylomegaepiphyseal dysplasia NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL11A2 gene.
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
DFNA13 Nonsyndromic Hearing Loss and Deafness Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the COL11A2 gene.
More info about this panel Germany.
Fibrochondrogenesis 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL11A2 gene.
More info about this panel Germany.
Otospondylomegaepiphyseal dysplasia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL11A2 gene.
More info about this panel Germany.
Deafness, non-syndromic sensorineural AR panel Panel
Germany.
By Centogene AG - the Rare Disease Company Deafness, non-syndromic sensorineural AR panel that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C ESPN CDH23 PCDH15 STRC WHRN
More info about this panel Germany.
Deafness type 53 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL11A2 gene.
More info about this panel Germany.
Stickler syndrome III Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL11A2 gene.
More info about this panel Germany.
Deafness, autosomal dominant type 13 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL11A2 gene.
More info about this panel Germany.
Stickler Syndrome Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum Stickler Syndrome that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel Germany.
Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel that also includes the following genes: SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2 PCDH15
More info about this panel Germany.
Syndromic Hearing Loss Panel Panel
Germany.
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Germany.
Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel Panel
Germany.
By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel that also includes the following genes: SMPX TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8
More info about this panel Germany.
Stickler Syndrome Panel Panel
Germany.
By CeGaT GmbH Stickler Syndrome Panel that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel Germany.
Stickler Syndrome Panel Panel
Germany.
By CeGaT GmbH Stickler Syndrome Panel that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel Germany.
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel Panel
Germany.
By CeGaT GmbH Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel that also includes the following genes: RMRP SMARCAL1 ACP5 CCN6 XYLT1 RAB33B B3GALT6 TRPV4 CHST3 CANT1
More info about this panel Germany.
Potentially lethal skeletal disorders Panel Panel
Germany.
By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1
More info about this panel Germany.
Sensorineural Hearing Loss Panel
Estonia.
By Asper Biogene Asper Biogene LLC Sensorineural Hearing Loss that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN
More info about this panel Estonia.
Stickler Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Stickler Syndrome that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2 COL9A3
More info about this panel Estonia.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Vitreoretinopathy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Vitreoretinopathy that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panel Estonia.
Stickler syndrome gene panel Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital Stickler syndrome gene panel that also includes the following genes: COL11A1 COL11A2
More info about this panel Belgium.
COL11A2 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the COL11A2 gene.
More info about this panel Belgium.
Vitreoretinopathy panel Panel
United States.
By Molecular Vision Laboratory Vitreoretinopathy panel that also includes the following genes: ATOH7 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL4A3 COL4A4 COL4A5
More info about this panel United States.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
DEAFNESS A.D. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.D. that also includes the following genes: TECTA TJP2 WFS1 ACTG1 TMC1 CCDC50 SLC17A8 COCH COL11A2 MYH14
More info about this panel Spain.
DEAFNESS A.D. and A.R. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.D. and A.R. that also includes the following genes: TECTA TJP2 TMPRSS3 USH1C WFS1 CDH23 ACTG1 PCDH15 WHRN BSND
More info about this panel Spain.
DEAFNESS A.R. (39 genes) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.R. (39 genes) that also includes the following genes: TECTA TMPRSS3 USH1C CDH23 PCDH15 WHRN BSND TMC1 TRIOBP GIPC3
More info about this panel Spain.
Stickler syndrome Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Stickler syndrome that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2 COL9A3
More info about this panel Spain.
Skeletal dysplasias Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel Spain.
NGS panel - Stickler syndrome and related disorders Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Stickler syndrome and related disorders that also includes the following genes: SLC26A2 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN
More info about this panel Netherlands.
Eye Disorders: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Stickler Syndrome: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Stickler Syndrome: Sequencing Panel that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel United States.
Disproportionate Short Stature: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panel United States.
Hearing Loss: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
Retina/Photoreceptor Dystrophy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel United States.
Disproportionate Short Stature: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panel United States.
Eye Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Hearing Loss: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C
More info about this panel United States.
Lysosomal Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panel United States.
Hearing Loss NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panel United States.
Stickler Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Stickler Syndrome NGS Panel that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
COL11A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL11A2 gene.
More info about this panel United States.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Non-Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Non-Syndromic Hearing Loss Panel that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WBP2 WFS1 ESPN
More info about this panel Finland.
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel Panel
Finland.
By Blueprint Genetics Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel that also includes the following genes: RMRP BGN SMARCAL1 ACP5 CCN6 RAB33B B3GALT6 TRPV4 CHST3 CANT1
More info about this panel Finland.
Marfan Syndrome Panel Panel
Finland.
By Blueprint Genetics Marfan Syndrome Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ADAMTS10 SLC2A10 CBS
More info about this panel Finland.
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel
Finland.
By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
More info about this panel Finland.
Stickler Syndrome Panel Panel
Finland.
By Blueprint Genetics Stickler Syndrome Panel that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN LRP2
More info about this panel Finland.
Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Vitreoretinopathy Panel Panel
Finland.
By Blueprint Genetics Vitreoretinopathy Panel that also includes the following genes: RS1 BEST1 ATOH7 CAPN5 P3H2 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1
More info about this panel Finland.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Cleft Lip/Palate and Associated Syndromes Panel Panel
Finland.
By Blueprint Genetics Cleft Lip/Palate and Associated Syndromes Panel that also includes the following genes: TBX22 KDM6A TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Stickler syndrome type III Panel
Spain.
By Bioarray
This panel specifically test the COL11A2 gene.
More info about this panel Spain.
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
United States.
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel United States.
STICKLER SYNDROME (AUTOSOMAL DOMINANT) Panel
Spain.
By Laboratorio de Genetica Clinica SL STICKLER SYNDROME (AUTOSOMAL DOMINANT) that also includes the following genes: COL11A1 COL11A2
More info about this panel Spain.
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) Panel
Spain.
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) that also includes the following genes: SIX1 TECTA WFS1 ACTG1 COCH COL11A2 GJB2 GJB6 MYH9
More info about this panel Spain.
STICKLER SYNDROME: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL STICKLER SYNDROME: NGS PANEL that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2 COL9A3
More info about this panel Spain.
SKELETAL DYSPLASIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SKELETAL DYSPLASIA NGS PANEL that also includes the following genes: SLC26A2 SOX9 TRIP11 TRPV4 EVC2 SLC35D1 COL10A1 COL11A1 COL11A2 COL1A2
More info about this panel Spain.
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL that also includes the following genes: SIX1 SMPX TECTA TJP2 WFS1 ACTG1 P2RX2 DIAPH3 OSBPL2 CD164
More info about this panel Spain.
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR WBP2 CLIC5 CDH23 CABP2
More info about this panel Spain.
Alport & Stickler syndrome hearing loss panel Panel
Canada.
By LifeLabs Genetics Alport & Stickler syndrome hearing loss panel that also includes the following genes: COL11A2 COL4A3 COL4A4 COL4A5 COL9A1 COL9A2 EDNRB
More info about this panel Canada.
Stickler Syndrome panel Panel
Canada.
By LifeLabs Genetics Stickler Syndrome panel that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel Canada.
Weissenbacher-Zweymuller Syndrome , Sequencing COL11A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL11A2 gene.
More info about this panel Spain.
Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 TMC1 HOMER2 CCDC50 SLC17A8 COCH
More info about this panel Spain.
Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TECTA TMPRSS3 USH1C CDH23 PCDH15 WHRN BSND TMC1 TRIOBP GIPC3
More info about this panel Spain.
Stickler Syndrome , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Stickler Syndrome , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel Spain.
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel
Spain.
By Reference Laboratory Genetics Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 ADAMTS10 SLC2A10 CBS ACVR1
More info about this panel Spain.
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel
Spain.
By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel Spain.
Stickler Syndrome Type III , Sequencing COL11A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL11A2 gene.
More info about this panel Spain.
Achondrogenesis/Hypochondrogenesis , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Achondrogenesis/Hypochondrogenesis , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SLC26A2 TRIP11 COL11A1 COL11A2
More info about this panel Spain.
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