COL9A1 gene related symptoms and diseases
All the information presented here about the COL9A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COL9A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Epiphyseal dysplasia | Very Common - Between 80% and 100% cases |
| Short stature | Common - Between 50% and 80% cases |
| Genu valgum | Common - Between 50% and 80% cases |
| Flat capital femoral epiphysis | Uncommon - Between 30% and 50% cases |
| Irregular vertebral endplates | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with COL9A1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Sensorineural hearing impairment
- Myopia
- Small epiphyses
- Irregular epiphyses
- Multiple epiphyseal dysplasia
- Astigmatism
- Flat face
- Retinal detachment
And 44 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COL9A1 gene
Here you will find a list of rare diseases related to the COL9A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY
Description
Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.
Most common symptoms of MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY
- Short stature
- Muscle weakness
- Pain
- Depressed nasal bridge
- Gait disturbance
More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6
Most common symptoms of EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6
- Arthralgia
- Difficulty walking
- Osteoarthritis
- Epiphyseal dysplasia
- Irregular vertebral endplates
More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6
SOURCES: OMIM
STICKLER SYNDROME, TYPE IV; STL4
Most common symptoms of STICKLER SYNDROME, TYPE IV; STL4
- Short stature
- Hearing impairment
- Sensorineural hearing impairment
- Myopia
- Genu valgum
More info about STICKLER SYNDROME, TYPE IV; STL4
SOURCES: OMIM
AUTOSOMAL RECESSIVE STICKLER SYNDROME
Description
Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms
Most common symptoms of AUTOSOMAL RECESSIVE STICKLER SYNDROME
- Short stature
- Micrognathia
- Sensorineural hearing impairment
- Cleft palate
- Cataract
More info about AUTOSOMAL RECESSIVE STICKLER SYNDROME
SOURCES: ORPHANET
Search interest in COL9A1
Potential gene panels for COL9A1 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.
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.
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.
COL9A1. Sequencing of the exons 8 and 9 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL9A1 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.
Stickler syndrome type IV (sequence analysis of COL9A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL9A1 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.
Epiphyseal dysplasia multiple (NGS panel for 7 gene) Panel
Portugal.
By CGC Genetics Epiphyseal dysplasia multiple (NGS panel for 7 gene) that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
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.
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.
Multiple Epiphyseal Dysplasia Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Multiple Epiphyseal Dysplasia Sequencing Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
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.
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via COL9A1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the COL9A1 gene.
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.
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel that also includes the following genes: SLC26A2 CANT1 COL9A1 COL9A2 COL9A3 COMP MATN3
More info about this panel United States.
Multiple epiphyseal dysplasia (MED) NGS panel Panel
United States.
By Connective Tissue Gene Tests Multiple epiphyseal dysplasia (MED) NGS panel that also includes the following genes: SLC26A2 CANT1 COL9A1 COL9A2 COL9A3 COMP MATN3
More info about this panel United States.
Multiple epiphyseal dysplasia (MED) Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Multiple epiphyseal dysplasia (MED) Comprehensive panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
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.
Stickler syndrome Deletion / Duplication panel - Recessive Panel
United States.
By Connective Tissue Gene Tests Stickler syndrome Deletion / Duplication panel - Recessive that also includes the following genes: COL9A1 COL9A2 COL9A3
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 Comprehensive panel - Recessive Panel
United States.
By Connective Tissue Gene Tests Stickler syndrome Comprehensive panel - Recessive that also includes the following genes: COL9A1 COL9A2 COL9A3
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.
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.
Stickler syndrome NGS panel - Recessive Panel
United States.
By Connective Tissue Gene Tests Stickler syndrome NGS panel - Recessive that also includes the following genes: COL9A1 COL9A2 COL9A3
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.
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.
Stickler Syndrome / High Myopia Panel
Germany.
By MGZ Medical Genetics Center Stickler Syndrome / High Myopia that also includes the following genes: P3H2 COL11A1 COL18A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 VCAN FBN1
More info about this panel Germany.
Stickler syndrome, autosomal recessive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL9A1 gene.
More info about this panel Germany.
Multiple Epiphyseal Dysplasia, Dominant Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum Multiple Epiphyseal Dysplasia, Dominant that also includes the following genes: COL9A1 COL9A2 COL9A3 COMP MATN3
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.
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.
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.
Single gene testing COL9A1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the COL9A1 gene.
More info about this panel Germany.
Multiple epiphyseal dysplasia and pseudoachondroplasia Panel Panel
Germany.
By CeGaT GmbH Multiple epiphyseal dysplasia and pseudoachondroplasia Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3 PTH1R
More info about this panel Germany.
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.
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.
Epiphyseal dysplasia, multiple, 6 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the COL9A1 gene.
More info about this panel Austria.
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.
Epiphyseal dysplasia, multiple, 6 Panel
Slovakia.
By MedGene
This panel specifically test the COL9A1 gene.
More info about this panel Slovakia.
Multiple epiphyseal dysplasia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Multiple epiphyseal dysplasia that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
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.
Vitreoretinopathy: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Vitreoretinopathy: Sequencing and Deletion/Duplication Panel that also includes the following genes: TSPAN12 COL11A1 COL9A1 VCAN FZD4 KCNJ13 LRP5 NDP
More info about this panel United States.
Multiple Epiphyseal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Multiple Epiphyseal Dysplasia: Sequencing Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
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.
Eye Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
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.
Multiple Epiphyseal Dysplasia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Multiple Epiphyseal Dysplasia NGS Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
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.
COL9A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL9A1 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.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
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.
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.
Multiple epiphyseal dysplasia due to collagen 9 anomaly type 6 Panel
Spain.
By Bioarray
This panel specifically test the COL9A1 gene.
More info about this panel Spain.
STICKLER SYNDROME (AUTOSOMAL RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL STICKLER SYNDROME (AUTOSOMAL RECESSIVE) that also includes the following genes: COL9A1 COL9A2 COL9A3
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.
EPIPHYSEAL DYSPLASIA, MULTIPLE (AUTOSOMAL DOMINANT) Panel
Spain.
By Laboratorio de Genetica Clinica SL EPIPHYSEAL DYSPLASIA, MULTIPLE (AUTOSOMAL DOMINANT) that also includes the following genes: COL9A1 COL9A2 COL9A3 COMP MATN3
More info about this panel Spain.
EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
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.
Stickler Syndrome Type IV , Sequencing COL9A1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL9A1 gene.
More info about this panel Spain.
Multiple Epiphyseal Dysplasia , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Multiple Epiphyseal Dysplasia , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
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.
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