Epiphyseal Dysplasia, Multiple, 2; Edm2

Description

Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease. Onset of the disorder is usually in childhood (summary by Jackson et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of EDM, see EDM1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Epiphyseal Dysplasia, Multiple, 2; Edm2

  • Short stature
  • Pica
  • Muscle weakness
  • Myopathy
  • Depressed nasal bridge
  • Pain
  • Frontal bossing
  • Gait disturbance
  • Fatigue
  • Proximal muscle weakness
And another 15 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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Epiphyseal Dysplasia, Multiple, 2; Edm2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
100 %
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
100 %
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
100 %
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
100 %
COL9A2. Complete sequencing.

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

COL9A2
Specificity
100 %
Genes
100 %
COL9A2. Sequencing of the exons 2, 3 and 4.

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

COL9A2
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
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
100 %
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
100 %
Stickler syndrome type 5 (sequence analysis of COL9A2 gene).

By CGC Genetics in Portugal.

COL9A2
Specificity
100 %
Genes
100 %
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
100 %
Epiphyseal dysplasia multiple (NGS panel for 7 gene).

By CGC Genetics in Portugal.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
100 %
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
100 %
Stickler syndrome (NGS panel for 5 genes).

By CGC Genetics in Portugal.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Multiple Epiphyseal Dysplasia Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
100 %
Stickler Syndrome Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, LRP2, VCAN
Specificity
12 %
Genes
100 %
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
100 %
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
100 %
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive, via the COL9A2 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL9A2
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
Multiple epiphyseal dysplasia (MED) Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
100 %
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
2 %
Genes
100 %
Stickler syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, VCAN
Specificity
13 %
Genes
100 %
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
100 %
Stickler syndrome Deletion / Duplication panel - Recessive.

By Connective Tissue Gene Tests in United States.

COL9A1, COL9A3, COL9A2
Specificity
34 %
Genes
100 %
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
100 %
Stickler syndrome Comprehensive panel - Recessive.

By Connective Tissue Gene Tests in United States.

COL9A1, COL9A3, COL9A2
Specificity
34 %
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
2 %
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
2 %
Genes
100 %
Stickler syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, VCAN
Specificity
13 %
Genes
100 %
Stickler syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, VCAN
Specificity
13 %
Genes
100 %
Stickler syndrome NGS panel - Recessive.

By Connective Tissue Gene Tests in United States.

COL9A1, COL9A3, COL9A2
Specificity
34 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Stickler syndrome, type 5.

By Centogene AG - the Rare Disease Company in Germany.

COL9A2
Specificity
100 %
Genes
100 %
Multiple Epiphyseal Dysplasia, Dominant.

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

COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
20 %
Genes
100 %
Stickler Syndrome.

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

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
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
100 %
Stickler Syndrome Panel.

By CeGaT GmbH in Germany.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Stickler Syndrome Panel.

By CeGaT GmbH in Germany.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Single gene testing COL9A2.

By CeGaT GmbH in Germany.

COL9A2
Specificity
100 %
Genes
100 %
Multiple epiphyseal dysplasia and pseudoachondroplasia Panel.

By CeGaT GmbH in Germany.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, PTH1R, COMP, MATN3
Specificity
13 %
Genes
100 %
Stickler Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2
Specificity
17 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Epiphyseal dysplasia, multiple, 2.

By Praxis fuer Humangenetik Wien in Austria.

COL9A2
Specificity
100 %
Genes
100 %
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
100 %
Epiphyseal dysplasia, multiple, 2.

By MedGene in Slovakia.

COL9A2
Specificity
100 %
Genes
100 %
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
100 %
Stickler syndrome.

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

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2
Specificity
17 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Stickler Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
Stickler Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Multiple Epiphyseal Dysplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
100 %
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
100 %
COL9A2.

By Fulgent Genetics Fulgent Genetics in United States.

COL9A2
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
Stickler Syndrome Panel.

By Blueprint Genetics in Finland.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LRP2, VCAN
Specificity
13 %
Genes
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
Multiple epiphyseal dysplasia due to collagen 9 anomaly type 2.

By Bioarray in Spain.

COL9A2
Specificity
100 %
Genes
100 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
100 %
STICKLER SYNDROME (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

COL9A1, COL9A2
Specificity
50 %
Genes
100 %
STICKLER SYNDROME: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
EPIPHYSEAL DYSPLASIA, MULTIPLE (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
20 %
Genes
100 %
EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3
Specificity
15 %
Genes
100 %
Alport & Stickler syndrome hearing loss panel.

By LifeLabs Genetics in Canada.

COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL11A2, EDNRB
Specificity
13 %
Genes
100 %
Stickler Syndrome panel.

By LifeLabs Genetics in Canada.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
Stickler Syndrome Type V , Sequencing COL9A2 Gene.

By Reference Laboratory Genetics in Spain.

COL9A2
Specificity
100 %
Genes
100 %
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
100 %
Stickler Syndrome , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
Specificity
20 %
Genes
100 %
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
100 %
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
100 %

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