COL1A2 gene related symptoms and diseases
All the information presented here about the COL1A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COL1A2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Wormian bones | Uncommon - Between 30% and 50% cases |
| Short stature | Uncommon - Between 30% and 50% cases |
| Blue sclerae | Uncommon - Between 30% and 50% cases |
| Recurrent fractures | Uncommon - Between 30% and 50% cases |
| Kyphosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with COL1A2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Increased susceptibility to fractures
- Bruising susceptibility
- Scoliosis
Rarely - Less than 30% cases
- Thin skin
- Soft skin
- Bowing of limbs due to multiple fractures
- Osteoporosis
- Joint laxity
And 104 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COL1A2 gene
Here you will find a list of rare diseases related to the COL1A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OSTEOGENESIS IMPERFECTA TYPE 3
Alternate names
OSTEOGENESIS IMPERFECTA TYPE 3 Is also known as severe osteogenesis imperfecta, osteogenesis imperfecta, progressively deforming, with normal sclerae, progressive deforming osteogenesis imperfecta, oi type 3, oi, type iii
Description
Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).
Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 3
- Short stature
- Hearing impairment
- Scoliosis
- Micrognathia
- Macrocephaly
More info about OSTEOGENESIS IMPERFECTA TYPE 3
OSTEOGENESIS IMPERFECTA TYPE 4
Alternate names
OSTEOGENESIS IMPERFECTA TYPE 4 Is also known as osteogenesis imperfecta with normal sclerae, oi type 4, oi, type iv
Description
Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term).
Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 4
- Short stature
- Hearing impairment
- Scoliosis
- Kyphosis
- Bruising susceptibility
More info about OSTEOGENESIS IMPERFECTA TYPE 4
OSTEOGENESIS IMPERFECTA TYPE 2
Alternate names
OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form, osteogenesis imperfecta congenita, oi type 2, lethal osteogenesis imperfecta, oi, type ii, oic, vrolik type of osteogenesis imperfecta
Description
Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.
Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 2
- Microcephaly
- Cataract
- Respiratory insufficiency
- Congestive heart failure
- Abnormality of the dentition
More info about OSTEOGENESIS IMPERFECTA TYPE 2
ORAL SUBMUCOUS FIBROSIS
Alternate names
ORAL SUBMUCOUS FIBROSIS Is also known as osmf
Description
Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.
Most common symptoms of ORAL SUBMUCOUS FIBROSIS
- Flexion contracture
- Narrow mouth
- Trismus
- Cheilitis
- Abnormality of the pharynx
More info about ORAL SUBMUCOUS FIBROSIS
OSTEOGENESIS IMPERFECTA TYPE 1
Alternate names
OSTEOGENESIS IMPERFECTA TYPE 1 Is also known as van der hoeve syndrome, adair-dighton syndrome, non-deforming osteogenesis imperfecta, oi type 1, mild osteogenesis imperfecta
Description
Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.
Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 1
- Short stature
- Frontal bossing
- Mandibular prognathia
- Dolichocephaly
- Wormian bones
More info about OSTEOGENESIS IMPERFECTA TYPE 1
EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
Alternate names
EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE Is also known as eds, cardiac valvular type
Description
Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.
Most common symptoms of EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
- Fatigue
- Atrial septal defect
- Dilatation
- Hernia
- Pectus excavatum
More info about EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
OSTEOPOROSIS
Alternate names
OSTEOPOROSIS Is also known as bone mineral density quantitative trait locus, osteoporosis, postmenopausal, bmnd, osteoporosis, involutional
Most common symptoms of OSTEOPOROSIS
- Osteoporosis
- Hypercalcemia
- Hyperparathyroidism
- Secondary hyperparathyroidism
More info about OSTEOPOROSIS
SOURCES: OMIM
EHLERS-DANLOS SYNDROME TYPE 7B
Alternate names
EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib, ehlers-danlos syndrome, type viib, autosomal dominant, eds7b
Description
Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.
Most common symptoms of EHLERS-DANLOS SYNDROME TYPE 7B
- Short stature
- Generalized hypotonia
- Scoliosis
- Micrognathia
- Muscle weakness
More info about EHLERS-DANLOS SYNDROME TYPE 7B
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA SYNDROME
Alternate names
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA SYNDROME Is also known as eds/oi syndrome
Description
Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.
More info about EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA SYNDROME
SOURCES: ORPHANET
HIGH BONE MASS OSTEOGENESIS IMPERFECTA
Alternate names
HIGH BONE MASS OSTEOGENESIS IMPERFECTA Is also known as high bone mass oi
Description
High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with mutiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.
More info about HIGH BONE MASS OSTEOGENESIS IMPERFECTA
SOURCES: ORPHANET
Search interest in COL1A2
Potential gene panels for COL1A2 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
COL1A2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the COL1A2 gene.
More info about this panel United States.
COL1A2 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the COL1A2 gene.
More info about this panel United States.
COL1A2 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the COL1A2 gene.
More info about this panel United States.
COL1A1/2 Related Disorders Panel (MitomeNGS) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Low Bone Mass Panel (MitomeNGS) Panel
United States.
By Baylor Miraca Genetics Laboratories Low Bone Mass Panel (MitomeNGS) that also includes the following genes: SLC34A1 SLC9A3R1 TNFRSF11A TNFRSF11B IFITM5 SP7 FKBP10 P3H1 SLC39A13 COL1A2
More info about this panel United States.
PreSeek Non-invasive Prenatal Gene Sequencing Screen Panel
United States.
By Baylor Miraca Genetics Laboratories PreSeek Non-invasive Prenatal Gene Sequencing Screen that also includes the following genes: RIT1 BRAF SMC1A SOS1 SOS2 CDKL5 SYNGAP1 TSC1 TSC2 HDAC8
More info about this panel United States.
Osteogenesis Imperfecta Evaluation Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the COL1A2 gene.
More info about this panel United States.
COL1A2 (OI) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the COL1A2 gene.
More info about this panel United States.
NGS Skeletal Dysplasia Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Skeletal Dysplasia Panel that also includes the following genes: SLC26A2 SOX9 TRPV4 COL1A2 COMP FGFR3 FLNA HSPG2
More info about this panel United States.
NGS Connective Tissue Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2
More info about this panel United States.
Osteogenesis Imperfecta Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the COL1A2 gene.
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.
COL1A1/COL1A2-Related Osteogenesis Imperfecta genomic sequencing and deletion/duplication analysis Panel
United States.
By Collagen Diagnostic Laboratory University of Washington
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Autosomal Dominant Osteogenesis imperfecta panel Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Autosomal Dominant Osteogenesis imperfecta panel that also includes the following genes: IFITM5 COL1A2
More info about this panel United States.
Osteogenesis Imperfecta and Genetic Bone Disorders Panel Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Osteogenesis Imperfecta and Genetic Bone Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC TNFRSF11B WNT1 MBTPS2 SERPINH1 XYLT2 NBAS IFITM5
More info about this panel United States.
Ehlers-Danlos type VII (EDS VII) genomic sequencing and deletion/duplication analysis Panel
United States.
By Collagen Diagnostic Laboratory University of Washington
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Comprehensive Ehlers-Danlos Syndrome Panel Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Comprehensive Ehlers-Danlos Syndrome Panel that also includes the following genes: C1R C1S FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14
More info about this panel United States.
Connective Tissue Disorders Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB ACTA2 SLC2A10 CBS
More info about this panel United States.
Familial Aneurysm and Aortopathy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Familial Aneurysm and Aortopathy that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB ACTA2 SLC2A10 CBS
More info about this panel United States.
COL1A2 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the COL1A2 gene.
More info about this panel United States.
COL1A2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the COL1A2 gene.
More info about this panel Germany.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
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.
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Osteogenesis Imperfecta & Low Bone Mass Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 CASR SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panel United States.
Ehlers-Danlos Syndrome Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Ehlers-Danlos Syndrome Panel that also includes the following genes: TNXB C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL1A2 COL3A1
More info about this panel United States.
Ehlers-Danlos Syndrome, Arthrochalasia Type Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the COL1A2 gene.
More info about this panel United Kingdom.
Osteogenesis Imperfecta, autosomal dominant Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the COL1A2 gene.
More info about this panel United Kingdom.
COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SLC26A2 SOX9 COL1A2 CRTAP FGFR3 ALPL
More info about this panel Spain.
COL1A2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
COL1A1, COL1A2. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
COL1A2. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
COL1A1, COL1A2. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
COL1A1, COL1A2, CRTAP, LEPRE1. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica COL1A1, COL1A2, CRTAP, LEPRE1. NextGeneDx.Complete sequencing by NGS that also includes the following genes: COL1A2 CRTAP
More info about this panel Spain.
Osteogenesis Imperfecta Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Connective Tissue Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq Analysis that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL1A2
More info about this panel United States.
Connective Tissue Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq + Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panel United States.
Connective Tissue Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panel United States.
Osteogenesis Imperfecta Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Osteogenesis Imperfecta Del/Dep Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Osteogenesis imperfecta type 1, 2, 3, 4 (sequence analysis of COL1A1 and COL1A2 genes) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Portugal.
Osteogenesis Imperfecta (sequence analysis of COL1A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Portugal.
Ehlers-Danlos syndrome type 1 (sequence analysis of COL1A1 and COL1A2 genes) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Portugal.
Ehlers-Danlos syndrome type VII (sequence analysis of COL1A1 and COL1A2 genes) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Portugal.
Ehlers-Danlos syndrome type VIIB (sequence analysis of COL1A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Portugal.
Ehlers-Danlos syndrome (NGS panel for 12 genes) Panel
Portugal.
By CGC Genetics Ehlers-Danlos syndrome (NGS panel for 12 genes) that also includes the following genes: TNXB FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14 PLOD1
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.
Osteogenesis imperfecta (NGS panel for 16 genes) Panel
Portugal.
By CGC Genetics Osteogenesis imperfecta (NGS panel for 16 genes) that also includes the following genes: BMP1 WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1 COL1A2 CRTAP
More info about this panel Portugal.
Deletion/duplication analysis of COL1A2 gene Panel
Portugal.
By CGC Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Portugal.
Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Portugal.
Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Portugal.
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6
More info about this panel United States.
Osteogenesis Imperfecta via COL1A2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS
More info about this panel United States.
Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS
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.
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel United States.
Ehlers-Danlos syndrome Comprehensive panel - Dominant Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA
More info about this panel United States.
Ehlers-Danlos syndrome NGS panel - Dominant Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA
More info about this panel United States.
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant that also includes the following genes: C1R C1S COL12A1 COL1A2 COL3A1 COL5A1 COL5A2 FLNA
More info about this panel United States.
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel United States.
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel United States.
Osteogenesis imperfecta COL1A1 & COL1A2 Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Osteogenesis imperfecta COL1A1 & COL1A2 NGS panel Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Osteogenesis imperfecta COL1A1 & COL1A2 Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive Panel
United States.
By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
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.
Osteogenesis imperfecta Comprehensive panel - Dominant Panel
United States.
By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Dominant that also includes the following genes: IFITM5 COL1A2 ANO5 ALPL P4HB PLS3
More info about this panel United States.
Osteogenesis imperfecta core Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Osteogenesis imperfecta core Comprehensive panel that also includes the following genes: IFITM5 COL1A2
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.
Skeletal dysplasia core Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core Comprehensive panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2
More info about this panel United States.
Skeletal dysplasia core NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core NGS panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2
More info about this panel United States.
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive Panel
United States.
By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panel United States.
Osteogenesis imperfecta core Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Osteogenesis imperfecta core Deletion / Duplication panel that also includes the following genes: IFITM5 COL1A2
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.
Osteogenesis imperfecta Deletion / Duplication panel - Dominant Panel
United States.
By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Dominant that also includes the following genes: IFITM5 COL1A2 ANO5 ALPL P4HB PLS3
More info about this panel United States.
Osteogenesis imperfecta NGS panel - Dominant Panel
United States.
By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Dominant that also includes the following genes: IFITM5 COL1A2 ANO5 ALPL P4HB PLS3
More info about this panel United States.
Skeletal dysplasia core Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core Deletion / Duplication panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2
More info about this panel United States.
Osteogenesis imperfecta core NGS panel Panel
United States.
By Connective Tissue Gene Tests Osteogenesis imperfecta core NGS panel that also includes the following genes: IFITM5 COL1A2
More info about this panel United States.
Osteogenesis imperfecta NGS panel - Dominant & Recessive Panel
United States.
By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panel United States.
Osteogenesis imperfecta, types I, II, III & IV NGS Test B Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Osteogenesis imperfecta, types I, II, III & IV Comprehensive Test B Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Osteogenesis imperfecta, types I, II, III & IV Deletion / Duplication Test B Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL1A2 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.
Connective tissue disorder Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
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.
Connective tissue disorder Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
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.
Connective tissue disorder NGS panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Marfan syndrome, EDS and other connective tissue disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Marfan syndrome, EDS and other connective tissue disorders - different panels that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS GATA5
More info about this panel Germany.
Osteogenesis imperfecta and osteoporosis - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Osteogenesis imperfecta and osteoporosis - different panels that also includes the following genes: BMP1 SEC24D SPARC WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1
More info about this panel Germany.
Ehlers-Danlos Syndrome (EDS) Panel
Germany.
By MGZ Medical Genetics Center Ehlers-Danlos Syndrome (EDS) that also includes the following genes: TNXB FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 ZNF469 CHST14
More info about this panel Germany.
Vascular and connective tissue diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panel Germany.
Ehlers-Danlos Syndrome Type VIIB Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Germany.
COL1A1/2-Related Osteogenesis Imperfecta Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Germany.
Ehlers Danlos syndrome Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Ehlers Danlos syndrome that also includes the following genes: COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
More info about this panel Germany.
Osteogenesis Imperfecta Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the COL1A2 gene.
More info about this panel Germany.
Ehlers-Danlos syndrome type VIIC Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL1A2 gene.
More info about this panel Germany.
Osteogenesis imperfecta Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL1A2 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
COL1A1/2-Related Osteogenesis Imperfecta Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the COL1A2 gene.
More info about this panel Germany.
Ehlers-Danlos Syndrome Type VIIB Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the COL1A2 gene.
More info about this panel Germany.
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
Germany.
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panel Germany.
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
Germany.
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
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.
Chondrodysplasia punctata Panel Panel
Germany.
By CeGaT GmbH Chondrodysplasia punctata Panel that also includes the following genes: BMP1 TNFRSF11B WNT1 SERPINH1 IFITM5 SP7 FKBP10 ATP6V0A2 P3H1 COL1A2
More info about this panel Germany.
Osteogenesis imperfecta Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the COL1A2 gene.
More info about this panel Poland.
Ehlers-Danlos Syndrome Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Ehlers-Danlos Syndrome that also includes the following genes: COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
More info about this panel Poland.
COL1A1/2-Related Osteogenesis Imperfecta Panel
Spain.
By Innovagenomics Innovagenomics S.L
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
COL1A1/2-Related Osteogenesis Imperfecta Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the COL1A2 gene.
More info about this panel Germany.
Ehlers-Danlos Syndrome, Arthrochalasia Type (EDS VIIA/VIIB) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the COL1A2 gene.
More info about this panel Germany.
Ehlers-Danlos Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2
More info about this panel Estonia.
COL1A2 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the COL1A2 gene.
More info about this panel Belgium.
OI panel 1 Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital OI panel 1 that also includes the following genes: IFITM5 COL1A2
More info about this panel Belgium.
Osteogenesis Imperfecta (OI), COL1A1/COL1A2 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Aortic Valvular Diseases Panel Panel
Spain.
By Health in Code Aortic Valvular Diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ADAMTSL4 COL1A2
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Aortic diseases Panel Panel
Spain.
By Health in Code Aortic diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS GATA5
More info about this panel Spain.
Osteogenesis Imperfecta Panel
United States.
By Molecular Vision Laboratory Osteogenesis Imperfecta that also includes the following genes: P3H1 COL1A2
More info about this panel United States.
COL1A2 single gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the COL1A2 gene.
More info about this panel United States.
Ehlers-Danlos syndrome VIIB Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the COL1A2 gene.
More info about this panel Austria.
Osteogenesis imperfecta III Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the COL1A2 gene.
More info about this panel Austria.
Osteogenesis imperfecta II Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the COL1A2 gene.
More info about this panel Austria.
Osteogenesis imperfecta IV Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the COL1A2 gene.
More info about this panel Austria.
Ehlers-Danlos syndrome VIIB Panel
Slovakia.
By MedGene
This panel specifically test the COL1A2 gene.
More info about this panel Slovakia.
Osteogenesis imperfecta II Panel
Slovakia.
By MedGene
This panel specifically test the COL1A2 gene.
More info about this panel Slovakia.
Osteogenesis imperfecta III Panel
Slovakia.
By MedGene
This panel specifically test the COL1A2 gene.
More info about this panel Slovakia.
Osteogenesis imperfecta IV Panel
Slovakia.
By MedGene
This panel specifically test the COL1A2 gene.
More info about this panel Slovakia.
Invitae Osteogenesis Imperfecta Panel Panel
United States.
By Invitae Invitae Osteogenesis Imperfecta Panel that also includes the following genes: P3H1 COL1A2 CRTAP
More info about this panel United States.
Invitae Ehlers-Danlos Syndrome Panel Panel
United States.
By Invitae Invitae Ehlers-Danlos Syndrome Panel that also includes the following genes: FKBP14 P3H1 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CRTAP CHST14
More info about this panel United States.
Osteogenesis imperfecta: COL1A2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
Osteogenesis imperfecta: COL1A1 and COL1A2 genes sequence analysis. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
EHLERS-DANLOS, SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EHLERS-DANLOS, SYNDROME that also includes the following genes: TNXB SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14 PLOD1 B4GALT7
More info about this panel Spain.
OSTEOGENESIS IMPERFECTA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases OSTEOGENESIS IMPERFECTA that also includes the following genes: BMP1 SERPINH1 IFITM5 SP7 FKBP10 P3H1 COL1A2 CRTAP ANO5 LRP5
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 - Osteogenesis Imperfecta and related disorders Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Osteogenesis Imperfecta and related disorders that also includes the following genes: BMP1 WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1 COL1A2 CRTAP
More info about this panel Netherlands.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panel Netherlands.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panel Netherlands.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panel Netherlands.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panel Netherlands.
COL1A2 - Gene Sequencing & Del/Dup analysis Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the COL1A2 gene.
More info about this panel Netherlands.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panel Netherlands.
Connective Tissue Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Sequencing Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10
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.
Connective Tissue Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Deletion/Duplication Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
Amelogenesis Imperfecta NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Amelogenesis Imperfecta NGS Panel that also includes the following genes: BMP1 SERPINH1 IFITM5 SP7 FKBP10 P3H1 COL1A2 FAM20A CRTAP FAM83H
More info about this panel United States.
Connective Tissue NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Connective Tissue NGS Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Osteogenesis Imperfecta NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL1A2 gene.
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.
COL1A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL1A2 gene.
More info about this panel United States.
OSTEOGENON Panel
Hungary.
By PentaCoreLab OSTEOGENON that also includes the following genes: P3H1 COL1A2 CRTAP
More info about this panel Hungary.
Ehlers-Danlos Panel
Hungary.
By PentaCoreLab Ehlers-Danlos that also includes the following genes: TNXB ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
More info about this panel Hungary.
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.
Osteogenesis Imperfecta Panel Panel
Finland.
By Blueprint Genetics Osteogenesis Imperfecta Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panel Finland.
Aorta Panel Panel
Finland.
By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS
More info about this panel Finland.
Ehlers-Danlos Syndrome Panel Panel
Finland.
By Blueprint Genetics Ehlers-Danlos Syndrome Panel that also includes the following genes: BGN TGFB2 TGFBR1 TGFBR2 CBS ATP6V0A2 FKBP14 SLC39A13 DSE ADAMTS2
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.
Skeletal Dysplasia with Abnormal Mineralization Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5
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.
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel
United States.
By Insight Medical Genetics Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel that also includes the following genes: ROR2 BMP1 SLC26A2 SOX9 TWIST1 WNT1 SERPINH1 IFITM5 SP7 FKBP10
More info about this panel United States.
Osteogenesis Imperfecta type III Panel
Spain.
By Bioarray
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
Ehlers-Danlos syndrome, arthrochalasic type Panel
Spain.
By Bioarray
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
Osteogenesis Imperfecta Panel
Spain.
By Bioarray
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
Exome Panel
Brazil.
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9
More info about this panel Brazil.
OSTEOGENESIS IMPERFECTA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL OSTEOGENESIS IMPERFECTA NGS PANEL that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panel Spain.
EHLERS-DANLOS SYNDROME, ARTROCALASIA, TYPE 7A & 7B Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
EHLERS-DANLOS SYNDROME: NGS PANEL-2 Panel
Spain.
By Laboratorio de Genetica Clinica SL EHLERS-DANLOS SYNDROME: NGS PANEL-2 that also includes the following genes: TNXB B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2
More info about this panel Spain.
OSTEOGENESIS IMPERFECTA (AUTOSOMAL DOMINANT) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the COL1A2 gene.
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.
Ehlers-Danlos syndrome and related disorders panel Panel
Canada.
By LifeLabs Genetics Ehlers-Danlos syndrome and related disorders panel that also includes the following genes: FKBP14 COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
More info about this panel Canada.
Osteogenesis Imperfecta , Deletions-Duplications (MLPA) COL1A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
Osteogenesis Imperfecta , Panel massive Sequencing (NGS) (COL1A1,COL1A2) Genes Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
Ehlers-Danlos Syndrome Type VIIB , Sequencing COL1A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL1A2 gene.
More info about this panel Spain.
Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
By Reference Laboratory Genetics Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: TNXB B3GALT6 FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14
More info about this panel Spain.
Osteogenesis Imperfecta , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Osteogenesis Imperfecta , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: BMP1 SERPINH1 IFITM5 SP7 FKBP10 P3H1 COL1A2 CRTAP SERPINF1 PLOD2
More info about this panel Spain.
Osteogenesis Imperfecta , Massive Sequencing COL1A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL1A2 gene.
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.
Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: VDR CALCR COL1A2 LRP5
More info about this panel Spain.
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