Spondylometaphyseal Dysplasia, Corner Fracture Type

Description

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

Clinical Features

Top most frequent phenotypes and symptoms related to Spondylometaphyseal Dysplasia, Corner Fracture Type

  • Short stature
  • Scoliosis
  • Kyphosis
  • Pes planus
  • Hyperlordosis
  • Genu valgum
  • Micromelia
  • Recurrent fractures
  • Waddling gait
  • Tetralogy of Fallot
And another 9 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Spondylometaphyseal Dysplasia, Corner Fracture Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Glomerulopathy with Fibronectin Deposits via the FN1 Gene.

By PreventionGenetics PreventionGenetics in United States.

FN1
Specificity
100 %
Genes
50 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
100 %
Nephrotic syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Nephrotic syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Nephrotic syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
50 %
FN1.

By Fulgent Genetics Fulgent Genetics in United States.

FN1
Specificity
100 %
Genes
50 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
50 %
Nephrotic Syndrome Panel.

By Blueprint Genetics in Finland.

WT1, COQ2, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, MYH9, CD2AP, DGKE, APOL1, TTC21B , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
50 %
COL2A1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

COL2A1
Specificity
100 %
Genes
50 %
COL2A1 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

COL2A1
Specificity
100 %
Genes
50 %
COL2A1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COL2A1
Specificity
100 %
Genes
50 %
COL2A1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COL2A1
Specificity
100 %
Genes
50 %
COL2A1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

COL2A1
Specificity
100 %
Genes
50 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
1 %
Genes
50 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
50 %
NGS Skeletal Dysplasia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, TRPV4, HSPG2, FLNA, COMP, SOX9
Specificity
10 %
Genes
50 %
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GAA, COL2A1, PSAP, GNPTAB, GLB1, GNE, SMPD1, CTSD, HEXA, GM2A, HEXB, PHYH, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
50 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, TGFB2, NOTCH1, SMAD3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Stickler Syndrome Types 1, 2, and 3 (COL2A1, COL11A1, COL11A2).

By Center for Human Genetics, Inc in United States.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
50 %
Kniest Dysplasia.

By Center for Human Genetics, Inc in United States.

COL2A1
Specificity
100 %
Genes
50 %
Connective Tissue Disorders 22-gene panel.

By Center for Human Genetics, Inc in United States.

COL2A1, COL1A1, COL1A2, COL3A1, FBN1, COL5A1, COL5A2, FLNA, COL11A1, COL11A2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, MYH11, PRKG1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
50 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
COL2A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL2A1
Specificity
100 %
Genes
50 %
COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ALPL, COL2A1, COL1A1, COL1A2, CRTAP, FGFR3, SLC26A2, SOX9
Specificity
13 %
Genes
50 %
COL2A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL2A1
Specificity
100 %
Genes
50 %
COL11A1, COL11A2, COL2A1. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
50 %
COL2A1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL2A1
Specificity
100 %
Genes
50 %
COL2A1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL2A1
Specificity
100 %
Genes
50 %
COL2A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Stickler syndrome Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
50 %
Stickler syndrome Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
50 %
Stickler Syndrome Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
50 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Type II Collagenopathies.

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
50 %
COL2A1-related Stickler syndrome.

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
50 %
Achondrogenesis type 2 (sequence analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
50 %
Kniest Dysplasia (sequence analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
50 %
Stickler syndrome (sequence analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepiphyseal Dysplasia Congenita (sequence analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
50 %
Epiphyseal dysplasia multiple (sequence analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
50 %
Syndromic deafness (NGS panel for 62 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Epiphyseal dysplasia multiple (NGS panel for 7 gene).

By CGC Genetics in Portugal.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
50 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)

View the complete list with 107 more genes
Specificity
1 %
Genes
50 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics in Portugal.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Stickler syndrome (NGS panel for 5 genes).

By CGC Genetics in Portugal.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
50 %
Stickler syndrome type 1 (deletion/duplication analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
50 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (sequence analyis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
50 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (deletion/duplication analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
50 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (deletion/duplication analysis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
50 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (sequence analyis of COL2A1 gene).

By CGC Genetics in Portugal.

COL2A1
Specificity
100 %
Genes
50 %
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LRP5, COL2A1, ATP6V0A2, NDP, TSPAN12, FZD4, ISPD, CTNNB1, ZNF408, KIF11, RCBTB1, VCAN, ATOH7, CAPN5
Specificity
8 %
Genes
50 %
Multiple Epiphyseal Dysplasia Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
50 %
Stickler Syndrome Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, LRP2, VCAN
Specificity
12 %
Genes
50 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
COL2A1-Related Disorders via the COL2A1 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL2A1
Specificity
100 %
Genes
50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
50 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
50 %
Achondrogenesis Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, TRIP11
Specificity
34 %
Genes
50 %
Achondrogenesis NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, TRIP11
Specificity
34 %
Genes
50 %
Achondrogenesis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, TRIP11
Specificity
34 %
Genes
50 %
Cleft lip, cleft palate and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
50 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
50 %
Cleft lip, cleft palate and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
50 %
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, CANT1, COMP, MATN3
Specificity
13 %
Genes
50 %
Multiple epiphyseal dysplasia (MED) NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, CANT1, COMP, MATN3
Specificity
13 %
Genes
50 %
Multiple epiphyseal dysplasia (MED) Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
50 %
Stickler syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, VCAN
Specificity
13 %
Genes
50 %
Vitreoretinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
50 %
Skeletal dysplasia core & extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Skeletal dysplasia core & extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Vitreoretinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
50 %
Skeletal dysplasia core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1
Specificity
10 %
Genes
50 %
Skeletal dysplasia core NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1
Specificity
10 %
Genes
50 %
Stickler syndrome core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
50 %
Skeletal dysplasia core & extended NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Stickler syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, VCAN
Specificity
13 %
Genes
50 %
Stickler syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, VCAN
Specificity
13 %
Genes
50 %
Stickler syndrome core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
50 %
Vitreoretinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5
Specificity
6 %
Genes
50 %
Stickler syndrome core NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
50 %
Skeletal dysplasia core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1
Specificity
10 %
Genes
50 %
Spondyloepimetaphyseal dysplasia, Strudwick type Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepimetaphyseal dysplasia, Strudwick type.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepimetaphyseal dysplasia, Strudwick type Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Platyspondylic lethal skeletal dysplasia, Torrance type Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepiphyseal dysplasia congenita Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepiphyseal dysplasia congenita.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Platyspondylic lethal skeletal dysplasia, Torrance type Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Platyspondylic lethal skeletal dysplasia, Torrance type.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepiphyseal dysplasia congenita Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloperipheral dysplasia NGS test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepiphyseal dysplasia congenita NGS test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloperipheral dysplasia Comprehensive test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Stickler syndrome, type I NGS test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloperipheral dysplasia Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepimetaphyseal dysplasia, Strudwick type NGS test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Stickler syndrome, type I Comprehensive test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepimetaphyseal dysplasia, Strudwick type Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepimetaphyseal dysplasia, Strudwick type Comprehensive test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Stickler syndrome, type I Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepiphyseal dysplasia congenita Comprehensive test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepiphyseal dysplasia congenita Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

COL2A1
Specificity
100 %
Genes
50 %
Cataract.

By MGZ Medical Genetics Center in Germany.

EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
Ectopia Lentis.

By MGZ Medical Genetics Center in Germany.

COL2A1, FBN1, CBS, COL11A1, COL18A1, ADAMTSL4, ADAMTS10, ASPH, VCAN, ADAMTS17
Specificity
10 %
Genes
50 %
COL2A1-Related Stickler Syndrome.

By MGZ Medical Genetics Center in Germany.

COL2A1
Specificity
100 %
Genes
50 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
50 %
Stickler Syndrome / High Myopia.

By MGZ Medical Genetics Center in Germany.

COL2A1, FBN1, COL5A1, COL5A2, COL9A1, COL9A3, COL9A2, COL11A1, COL18A1, VCAN, P3H2
Specificity
10 %
Genes
50 %
COL2A1-Related Stickler Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL2A1
Specificity
100 %
Genes
50 %
Type II Collagenopathies.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL2A1
Specificity
100 %
Genes
50 %
Vitreoretinopathy and Wagner syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN
Specificity
17 %
Genes
50 %
Stickler syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

COL2A1
Specificity
100 %
Genes
50 %
Stickler Syndrome.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
50 %
COL2A1 related disorders.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

COL2A1
Specificity
100 %
Genes
50 %
Syndromic Hearing Loss Panel.

By CeGaT GmbH in Germany.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Stickler Syndrome Panel.

By CeGaT GmbH in Germany.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
50 %
Stickler Syndrome Panel.

By CeGaT GmbH in Germany.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
50 %
Familial Exudative Vitreoretinopathy and Wagner syndrome Panel.

By CeGaT GmbH in Germany.

LRP5, COL2A1, NDP, TSPAN12, FZD4, ZNF408, VCAN, CAPN5
Specificity
13 %
Genes
50 %
Single gene testing COL2A1.

By CeGaT GmbH in Germany.

COL2A1
Specificity
100 %
Genes
50 %
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel.

By CeGaT GmbH in Germany.

COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Multiple epiphyseal dysplasia and pseudoachondroplasia Panel.

By CeGaT GmbH in Germany.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, PTH1R, COMP, MATN3
Specificity
13 %
Genes
50 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Skeletal Dysplasia.

By Asper Biogene Asper Biogene LLC in Estonia.

ALPL, COL2A1, FGFR3, FGFR2, SLC26A2, SOX9, WNT5A, ESCO2, ROR2, TRIP11
Specificity
10 %
Genes
50 %
Stickler Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2
Specificity
17 %
Genes
50 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Vitreoretinopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

BEST1, LRP5, COL2A1, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5, NDP-AS1
Specificity
6 %
Genes
50 %
Stickler syndrome gene panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
50 %
COL2A1 screening.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL2A1
Specificity
100 %
Genes
50 %
COL2A1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL2A1
Specificity
100 %
Genes
50 %
Type II collagenopathies, collagen type 2 alpha 1, COL2A1 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

COL2A1
Specificity
100 %
Genes
50 %
Vitreoretinopathy panel.

By Molecular Vision Laboratory in United States.

LRP5, COL2A1, NDP, KCNJ13, TSPAN12, FZD4, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, ATOH7, CAPN5
Specificity
6 %
Genes
50 %
Achondrogenesis, type II or hypochondrogenesis.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
Czech dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
Epiphyseal dysplasia, multiple, with myopia and deafness.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
Kniest dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
Legg-Calve-Perthes disease.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
Osteoarthritis with mild chondrodysplasia.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
Otospondylomegaepiphyseal dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
Platyspondylic skeletal dysplasia, Torrance type.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
SED congenita.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
SMED Strudwick type.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloperipheral dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
Stickler sydrome, type I.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
Stickler sydrome, type I, nonsyndromic ocular.

By Praxis fuer Humangenetik Wien in Austria.

COL2A1
Specificity
100 %
Genes
50 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
50 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
50 %
Achondrogenesis, type II or hypochondrogenesis.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
Czech dysplasia.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
Epiphyseal dysplasia, multiple, with myopia and deafness.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
Kniest dysplasia.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
Legg-Calve-Perthes disease.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
Osteoarthritis with mild chondrodysplasia.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
Otospondylomegaepiphyseal dysplasia.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
Platyspondylic skeletal dysplasia, Torrance type.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
SED congenita.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
SMED Strudwick type.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloperipheral dysplasia.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
Stickler sydrome, type I.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
Stickler sydrome, type I, nonsyndromic ocular.

By MedGene in Slovakia.

COL2A1
Specificity
100 %
Genes
50 %
Achondrogenesis type 2: COL2A1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Kniest dysplasia: COL2A1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Stickler syndrome, type I: COL2A1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Multiple epiphyseal dysplasia.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
50 %
Stickler syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2
Specificity
17 %
Genes
50 %
Skeletal dysplasias.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Vitreoretinopathy and Wagner syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN
Specificity
17 %
Genes
50 %
NGS panel - Stickler syndrome and related disorders.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, VCAN
Specificity
13 %
Genes
50 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
50 %
Stickler Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
50 %
Vitreoretinopathy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LRP5, COL2A1, NDP, KCNJ13, TSPAN12, FZD4, COL9A1, COL11A1, VCAN
Specificity
12 %
Genes
50 %
Multiple Epiphyseal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
50 %
Connective Tissue Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
50 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
50 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
50 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
50 %
Connective Tissue Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
50 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
50 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
50 %
Connective Tissue NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL4A1, COL11A1, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Vitreoretinopathy and Wagner Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN
Specificity
17 %
Genes
50 %
Stickler Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
50 %
Multiple Epiphyseal Dysplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
50 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
50 %
COL2A1.

By Fulgent Genetics Fulgent Genetics in United States.

COL2A1
Specificity
100 %
Genes
50 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
50 %
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel.

By Blueprint Genetics in Finland.

COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, BGN, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Marfan Syndrome Panel.

By Blueprint Genetics in Finland.

COL2A1, COL1A1, COL1A2, COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, COL11A1, COL11A2, MED12, UPF3B, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
50 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GLDC, AMT, HEXA, GM2A, SUOX, ALDH5A1 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
50 %
Stickler Syndrome Panel.

By Blueprint Genetics in Finland.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LRP2, VCAN
Specificity
13 %
Genes
50 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
50 %
Aorta Panel.

By Blueprint Genetics in Finland.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Ehlers-Danlos Syndrome Panel.

By Blueprint Genetics in Finland.

ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
50 %
Vitreoretinopathy Panel.

By Blueprint Genetics in Finland.

BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CTNNB1, ZNF408, KIF11, CTC1, COL18A1, VCAN , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
50 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
50 %
Cleft Lip/Palate and Associated Syndromes Panel.

By Blueprint Genetics in Finland.

COL2A1, KMT2D, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, KDM6A, SATB2, IRF6, FOXE1, GRHL3, MSX1, TGDS, TBX22
Specificity
7 %
Genes
50 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
50 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
50 %
Achondrogenesis type 2.

By Bioarray in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Stickler syndrome type I.

By Bioarray in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepiphyseal dysplasia congenita.

By Bioarray in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepiphyseal dysplasia congenita.

By Bioarray in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
50 %
STICKLER SYNDROME (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1, COL11A1, COL11A2
Specificity
34 %
Genes
50 %
ACHONDROGENESIS TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1
Specificity
100 %
Genes
50 %
STICKLER SYNDROME: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
50 %
EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
50 %
KNIEST DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1
Specificity
100 %
Genes
50 %
SPONDYLOEPIPHYSEAL DYSPLASIA.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Alport & Stickler syndrome hearing loss panel.

By LifeLabs Genetics in Canada.

COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL11A2, EDNRB
Specificity
13 %
Genes
50 %
Stickler Syndrome panel.

By LifeLabs Genetics in Canada.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
50 %
Stickler Syndrome panel.

By LifeLabs Genetics in Canada.

COL2A1
Specificity
100 %
Genes
50 %
Achondrogenesis, type II.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Avascular necrosis of the head of femur.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Czech dysplasia metatarsal type.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Epiphyseal dysplasia, multiple, with myopia and conductive deafness.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Kniest dysplasia.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Coxa plana.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Osteoarthritis with mild chondrodysplasia.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Otospondylomegaepiphyseal dysplasia.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Platyspondylic lethal skeletal dysplasia Torrance type.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepiphyseal dysplasia congenita.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Osteoarthritis with mild chondrodysplasia.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepimetaphyseal dysplasia Strudwick type.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloepiphyseal dysplasia, stanescu type.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Spondyloperipheral dysplasia.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Stickler syndrome, type I, nonsyndromic ocular.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Vitreoretinopathy with phalangeal epiphyseal dysplasia.

By Genera in Brazil.

COL2A1
Specificity
100 %
Genes
50 %
Achondrogenesis Type 2, Sequencing COL2A1 Gene.

By Reference Laboratory Genetics in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Stickler Syndrome Type I , Deletions-Duplications (MLPA) COL2A1 Gene.

By Reference Laboratory Genetics in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Kniest Dysplasia, Massive Sequencing (NGS) COL2A1 Gene.

By Reference Laboratory Genetics in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Multiple Epiphyseal Dysplasia , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
50 %
Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

COL2A1, TRPV4, LPIN2, WISP3, IL1RN, HPGD, ACAN
Specificity
15 %
Genes
50 %
Stickler Syndrome , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
50 %
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes.

By Reference Laboratory Genetics in Spain.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL9A1, COL9A2, COL11A1, COL11A2, TGFB2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
50 %
Stickler Syndrome Type I , Sequencing COL2A1 Gene.

By Reference Laboratory Genetics in Spain.

COL2A1
Specificity
100 %
Genes
50 %
Achondrogenesis/Hypochondrogenesis , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

COL2A1, SLC26A2, COL11A1, COL11A2, TRIP11
Specificity
20 %
Genes
50 %

Alternate names

Spondylometaphyseal Dysplasia, Corner Fracture Type Is also known as spondylometaphyseal dysplasia, sutcliffe type;spondylometaphyseal dysplasia, sutcliffe type.



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