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.

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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

SOURCES: MESH OMIM ORPHANET

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: ORPHANET MESH OMIM

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

SOURCES: MESH ORPHANET

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

SOURCES: ORPHANET OMIM

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

SOURCES: MESH OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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


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

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

COL1A2 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

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

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

Osteogenesis Imperfecta Evaluation Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the COL1A2 gene.

More info about this panel

COL1A2 (OI) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

Osteogenesis Imperfecta Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

COL1A2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

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

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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

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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

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

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

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

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COL1A2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the COL1A2 gene.

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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.

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COL1A2. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the COL1A2 gene.

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COL1A1, COL1A2. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the COL1A2 gene.

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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

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

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

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

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

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

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

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.

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Osteogenesis Imperfecta (sequence analysis of COL1A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

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

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

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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

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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

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Deletion/duplication analysis of COL1A2 gene Panel

Portugal.

By CGC Genetics

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

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

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Osteogenesis Imperfecta via COL1A2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the COL1A2 gene.

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Osteogenesis imperfecta COL1A1 & COL1A2 Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL1A2 gene.

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Osteogenesis imperfecta COL1A1 & COL1A2 NGS panel Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL1A2 gene.

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Osteogenesis imperfecta COL1A1 & COL1A2 Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL1A2 gene.

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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

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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

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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

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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

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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

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

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

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

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

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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

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

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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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Osteogenesis imperfecta Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

COL1A1/2-Related Osteogenesis Imperfecta Panel

Spain.

By Innovagenomics Innovagenomics S.L

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

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

COL1A2 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

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

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

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

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

Osteogenesis Imperfecta Panel

United States.

By Molecular Vision Laboratory Osteogenesis Imperfecta that also includes the following genes: P3H1 COL1A2

More info about this panel

COL1A2 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the COL1A2 gene.

More info about this panel

Ehlers-Danlos syndrome VIIB Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the COL1A2 gene.

More info about this panel

Osteogenesis imperfecta III Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the COL1A2 gene.

More info about this panel

Osteogenesis imperfecta II Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the COL1A2 gene.

More info about this panel

Osteogenesis imperfecta IV Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the COL1A2 gene.

More info about this panel

Ehlers-Danlos syndrome VIIB Panel

Slovakia.

By MedGene

This panel specifically test the COL1A2 gene.

More info about this panel

Osteogenesis imperfecta II Panel

Slovakia.

By MedGene

This panel specifically test the COL1A2 gene.

More info about this panel

Osteogenesis imperfecta III Panel

Slovakia.

By MedGene

This panel specifically test the COL1A2 gene.

More info about this panel

Osteogenesis imperfecta IV Panel

Slovakia.

By MedGene

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Osteogenesis Imperfecta NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL1A2 gene.

More info about this panel

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

COL1A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL1A2 gene.

More info about this panel

OSTEOGENON Panel

Hungary.

By PentaCoreLab OSTEOGENON that also includes the following genes: P3H1 COL1A2 CRTAP

More info about this panel

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

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

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

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

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

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

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

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

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

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

Osteogenesis Imperfecta type III Panel

Spain.

By Bioarray

This panel specifically test the COL1A2 gene.

More info about this panel

Ehlers-Danlos syndrome, arthrochalasic type Panel

Spain.

By Bioarray

This panel specifically test the COL1A2 gene.

More info about this panel

Osteogenesis Imperfecta Panel

Spain.

By Bioarray

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

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

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

OSTEOGENESIS IMPERFECTA (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

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

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

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

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

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

Osteogenesis Imperfecta , Massive Sequencing COL1A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the COL1A2 gene.

More info about this panel

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

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

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


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