Ehlers-danlos Syndrome, Type Vii, Autosomal Dominant

Description

EDS type VII is distinguished from the 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).Beighton et al. (1998) reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, including a category of 'unspecified forms.'

Clinical Features

Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome, Type Vii, Autosomal Dominant

  • Short stature
  • Generalized hypotonia
  • Pica
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia
  • Flexion contracture
  • Depressed nasal bridge
  • Frontal bossing
And another 39 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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Ehlers-danlos Syndrome, Type Vii, Autosomal Dominant Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
100 %
COL1A2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COL1A2
Specificity
100 %
Genes
100 %
COL1A2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COL1A2
Specificity
100 %
Genes
100 %
COL1A2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

COL1A2
Specificity
100 %
Genes
100 %
COL1A1/2 Related Disorders Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

ALPL, FKBP10, B4GALT7, IFITM5, COL1A1, COL1A2, COL3A1, SLC34A1, TNFRSF11A, FBN1, SERPINF1, SP7, PLOD3, SLC39A13, SLC9A3R1, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories in United States.

COL1A1, COL1A2, JAG1, RAF1, MECP2, FGFR3, BRAF, CDKL5, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, FGFR2, SOS2, HDAC8, RIT1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Osteogenesis Imperfecta Evaluation.

By Athena Diagnostics Inc in United States.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
COL1A2 (OI) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

COL1A2
Specificity
100 %
Genes
100 %
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
100 %
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
100 %
Osteogenesis Imperfecta.

By Center for Human Genetics, Inc in United States.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
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
100 %
COL1A1/COL1A2-Related Osteogenesis Imperfecta genomic sequencing and deletion/duplication analysis.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Autosomal Dominant Osteogenesis imperfecta panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

IFITM5, COL1A1, COL1A2
Specificity
34 %
Genes
100 %
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Ehlers-Danlos type VII (EDS VII) genomic sequencing and deletion/duplication analysis.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Comprehensive Ehlers-Danlos Syndrome Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

ATP7A, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, CHST14, C1S, C1R
Specificity
8 %
Genes
100 %
Connective Tissue Disorders Panel.

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

B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Familial Aneurysm and Aortopathy.

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

B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
COL1A2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

COL1A2
Specificity
100 %
Genes
100 %
COL1A2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

COL1A2
Specificity
100 %
Genes
100 %
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
100 %
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
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 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.

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

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, CASR, PHEX, FGF23, PLS3, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Ehlers-Danlos Syndrome, Arthrochalasia Type.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Osteogenesis Imperfecta, autosomal dominant.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
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
100 %
COL1A2. Complete sequencing.

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

COL1A2
Specificity
100 %
Genes
100 %
COL1A1, COL1A2. NextGeneDx.Complete sequencing by NGS.

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

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
COL1A2. MLPA testing.

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

COL1A2
Specificity
100 %
Genes
100 %
COL1A1, COL1A2. MLPA testing.

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

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
COL1A1, COL1A2, CRTAP, LEPRE1. NextGeneDx.Complete sequencing by NGS.

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

COL1A1, COL1A2, CRTAP
Specificity
34 %
Genes
100 %
Osteogenesis Imperfecta Seq + Del/Dup Panel.

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

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Connective Tissue Seq Analysis.

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

FBLN5, COL1A1, COL1A2, COL3A1, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Connective Tissue Seq + Del/Dup Panel.

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

FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Connective Tissue Del/Dup Panel.

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

FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Osteogenesis Imperfecta Seq Analysis.

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

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Osteogenesis Imperfecta Del/Dep Panel.

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

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Osteogenesis imperfecta type 1, 2, 3, 4 (sequence analysis of COL1A1 and COL1A2 genes).

By CGC Genetics in Portugal.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Osteogenesis Imperfecta (sequence analysis of COL1A2 gene).

By CGC Genetics in Portugal.

COL1A2
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome type 1 (sequence analysis of COL1A1 and COL1A2 genes).

By CGC Genetics in Portugal.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Ehlers-Danlos syndrome type VII (sequence analysis of COL1A1 and COL1A2 genes).

By CGC Genetics in Portugal.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Ehlers-Danlos syndrome type VIIB (sequence analysis of COL1A2 gene).

By CGC Genetics in Portugal.

COL1A2
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome (NGS panel for 12 genes).

By CGC Genetics in Portugal.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, TNXB, CHST14
Specificity
9 %
Genes
100 %
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
100 %
Osteogenesis imperfecta (NGS panel for 16 genes).

By CGC Genetics in Portugal.

FKBP10, IFITM5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, CREB3L1
Specificity
7 %
Genes
100 %
Deletion/duplication analysis of COL1A2 gene.

By CGC Genetics in Portugal.

COL1A2
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A2 gene).

By CGC Genetics in Portugal.

COL1A2
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A2 gene).

By CGC Genetics in Portugal.

COL1A2
Specificity
100 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1 , (...)

View the complete list with 25 more genes
Specificity
3 %
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 %
Osteogenesis Imperfecta via the COL1A2 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
100 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, PHEX, FGF23, PLS3, TMEM38B, BMP1, WNT1, SERPINH1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
5 %
Genes
100 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant.

By Connective Tissue Gene Tests in United States.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA, COL12A1, C1S, C1R
Specificity
12 %
Genes
100 %
Ehlers-Danlos syndrome NGS panel - Dominant.

By Connective Tissue Gene Tests in United States.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA, COL12A1, C1S, C1R
Specificity
12 %
Genes
100 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant.

By Connective Tissue Gene Tests in United States.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA, COL12A1, C1S, C1R
Specificity
12 %
Genes
100 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
5 %
Genes
100 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, C1S, C1R, B3GALT6, DSE
Specificity
5 %
Genes
100 %
Osteogenesis imperfecta COL1A1 & COL1A2 Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Osteogenesis imperfecta COL1A1 & COL1A2 NGS panel.

By Connective Tissue Gene Tests in United States.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Osteogenesis imperfecta COL1A1 & COL1A2 Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
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
100 %
Osteogenesis imperfecta Comprehensive panel - Dominant.

By Connective Tissue Gene Tests in United States.

ALPL, IFITM5, COL1A1, COL1A2, ANO5, PLS3, P4HB
Specificity
15 %
Genes
100 %
Osteogenesis imperfecta core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

IFITM5, COL1A1, COL1A2
Specificity
34 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Osteogenesis imperfecta core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

IFITM5, COL1A1, COL1A2
Specificity
34 %
Genes
100 %
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
100 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant.

By Connective Tissue Gene Tests in United States.

ALPL, IFITM5, COL1A1, COL1A2, ANO5, PLS3, P4HB
Specificity
15 %
Genes
100 %
Osteogenesis imperfecta NGS panel - Dominant.

By Connective Tissue Gene Tests in United States.

ALPL, IFITM5, COL1A1, COL1A2, ANO5, PLS3, P4HB
Specificity
15 %
Genes
100 %
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
100 %
Osteogenesis imperfecta core NGS panel.

By Connective Tissue Gene Tests in United States.

IFITM5, COL1A1, COL1A2
Specificity
34 %
Genes
100 %
Osteogenesis imperfecta NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Osteogenesis imperfecta, types I, II, III & IV NGS Test B.

By Connective Tissue Gene Tests in United States.

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta, types I, II, III & IV Comprehensive Test B.

By Connective Tissue Gene Tests in United States.

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta, types I, II, III & IV Deletion / Duplication Test B.

By Connective Tissue Gene Tests in United States.

COL1A2
Specificity
100 %
Genes
100 %
Marfan syndrome, EDS and other connective tissue disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

B4GALT7, COL1A1, COL1A2, COL3A1, ELN, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL4A5, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Osteogenesis imperfecta and osteoporosis - different panels.

By Institute of Human Genetics Cologne University in Germany.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Ehlers-Danlos Syndrome (EDS).

By MGZ Medical Genetics Center in Germany.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469
Specificity
8 %
Genes
100 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Ehlers-Danlos Syndrome Type VIIB.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL1A2
Specificity
100 %
Genes
100 %
COL1A1/2-Related Osteogenesis Imperfecta.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Ehlers Danlos syndrome.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1
Specificity
17 %
Genes
100 %
Osteogenesis Imperfecta.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Ehlers-Danlos syndrome type VIIC.

By Centogene AG - the Rare Disease Company in Germany.

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta.

By Centogene AG - the Rare Disease Company in Germany.

COL1A2
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
COL1A1/2-Related Osteogenesis Imperfecta.

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

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Ehlers-Danlos Syndrome Type VIIB.

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

COL1A2
Specificity
100 %
Genes
100 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
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
100 %
Chondrodysplasia punctata Panel.

By CeGaT GmbH in Germany.

FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, PYCR1, ATP6V0A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, ANO5, PLS3, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Osteogenesis imperfecta.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Ehlers-Danlos Syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1
Specificity
17 %
Genes
100 %
COL1A1/2-Related Osteogenesis Imperfecta.

By Innovagenomics Innovagenomics S.L in Spain.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
COL1A1/2-Related Osteogenesis Imperfecta.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Ehlers-Danlos Syndrome, Arthrochalasia Type (EDS VIIA/VIIB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
COL1A2 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL1A2
Specificity
100 %
Genes
100 %
OI panel 1.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

IFITM5, COL1A1, COL1A2
Specificity
34 %
Genes
100 %
Osteogenesis Imperfecta (OI), COL1A1/COL1A2 sequencing.

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

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Aortic Valvular Diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Aortic diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, MED12, ZDHHC9, TGFB2, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Osteogenesis Imperfecta.

By Molecular Vision Laboratory in United States.

COL1A1, COL1A2, P3H1
Specificity
34 %
Genes
100 %
COL1A2 single gene sequencing.

By Molecular Vision Laboratory in United States.

COL1A2
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome VIIB.

By Praxis fuer Humangenetik Wien in Austria.

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta III.

By Praxis fuer Humangenetik Wien in Austria.

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta II.

By Praxis fuer Humangenetik Wien in Austria.

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta IV.

By Praxis fuer Humangenetik Wien in Austria.

COL1A2
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome VIIB.

By MedGene in Slovakia.

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta II.

By MedGene in Slovakia.

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta III.

By MedGene in Slovakia.

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta IV.

By MedGene in Slovakia.

COL1A2
Specificity
100 %
Genes
100 %
Invitae Osteogenesis Imperfecta Panel.

By Invitae in United States.

COL1A1, COL1A2, P3H1, CRTAP
Specificity
25 %
Genes
100 %
Invitae Ehlers-Danlos Syndrome Panel.

By Invitae in United States.

ATP7A, COL1A1, COL1A2, COL3A1, SLC39A13, P3H1, CRTAP, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, CHST14
Specificity
8 %
Genes
100 %
Osteogenesis imperfecta: COL1A2 gene sequence analysis.

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

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta: COL1A1 and COL1A2 genes sequence analysis..

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

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
EHLERS-DANLOS, SYNDROME.

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

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, TNXB, CHST14
Specificity
10 %
Genes
100 %
OSTEOGENESIS IMPERFECTA.

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

FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, BMP1, SERPINH1
Specificity
8 %
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 - Osteogenesis Imperfecta and related disorders.

By Genome Diagnostics VU University Medical Center in Netherlands.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TAPT1, TMEM38B, BMP1, WNT1, SERPINH1, CREB3L1
Specificity
6 %
Genes
100 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded).

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE, FLNB
Specificity
5 %
Genes
100 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1.

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, FBN1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded).

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE, FLNB
Specificity
5 %
Genes
100 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1.

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, COL3A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
COL1A2 - Gene Sequencing & Del/Dup analysis.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL1A2
Specificity
100 %
Genes
100 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA.

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
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
100 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...)

View the complete list with 14 more genes
Specificity
3 %
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 %
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
100 %
Amelogenesis Imperfecta NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FKBP10, IFITM5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PPIB, DSPP, BMP1, SERPINH1, FAM20A, AMELX, DLX3, FAM83H, ENAM, KLK4, MMP20, WDR72
Specificity
5 %
Genes
100 %
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
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Osteogenesis Imperfecta NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL1A1, COL1A2
Specificity
50 %
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 %
COL1A2.

By Fulgent Genetics Fulgent Genetics in United States.

COL1A2
Specificity
100 %
Genes
100 %
OSTEOGENON.

By PentaCoreLab in Hungary.

COL1A1, COL1A2, P3H1, CRTAP
Specificity
25 %
Genes
100 %
Ehlers-Danlos.

By PentaCoreLab in Hungary.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, ADAMTS2, TNXB
Specificity
13 %
Genes
100 %
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
100 %
Osteogenesis Imperfecta Panel.

By Blueprint Genetics in Finland.

ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PHEX, FGF23, MBTPS2, PLS3, SPARC, TMEM38B, BMP1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
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
100 %
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
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 %
Skeletal Dysplasia with Abnormal Mineralization Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR , (...)

View the complete list with 12 more genes
Specificity
4 %
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 %
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
100 %
Osteogenesis Imperfecta type III.

By Bioarray in Spain.

COL1A2
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome, arthrochalasic type.

By Bioarray in Spain.

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta.

By Bioarray in Spain.

COL1A2
Specificity
100 %
Genes
100 %
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
100 %
OSTEOGENESIS IMPERFECTA (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
EHLERS-DANLOS SYNDROME, ARTROCALASIA, TYPE 7A & 7B.

By Laboratorio de Genetica Clinica SL in Spain.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
EHLERS-DANLOS SYNDROME: NGS PANEL-1.

By Laboratorio de Genetica Clinica SL in Spain.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, TNXB
Specificity
15 %
Genes
100 %
EHLERS-DANLOS SYNDROME: NGS PANEL-2.

By Laboratorio de Genetica Clinica SL in Spain.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, FKBP14, TNXB, CHST14, B3GALT6, DSE
Specificity
7 %
Genes
100 %
Ehlers-Danlos syndrome and related disorders panel.

By LifeLabs Genetics in Canada.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, FKBP14
Specificity
15 %
Genes
100 %
Osteogenesis Imperfecta , Deletions-Duplications (MLPA) COL1A2 Gene.

By Reference Laboratory Genetics in Spain.

COL1A2
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta , Panel massive Sequencing (NGS) (COL1A1,COL1A2) Genes.

By Reference Laboratory Genetics in Spain.

COL1A1, COL1A2
Specificity
50 %
Genes
100 %
Ehlers-Danlos Syndrome Type VIIB , Sequencing COL1A2 Gene.

By Reference Laboratory Genetics in Spain.

COL1A2
Specificity
100 %
Genes
100 %
Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

B4GALT7, COL1A1, COL1A2, COL3A1, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, TNXB, CHST14, B3GALT6
Specificity
8 %
Genes
100 %
Osteogenesis Imperfecta , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

FKBP10, IFITM5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, BMP1, SERPINH1
Specificity
9 %
Genes
100 %
Osteogenesis Imperfecta , Massive Sequencing COL1A2 Gene.

By Reference Laboratory Genetics in Spain.

COL1A2
Specificity
100 %
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 %
Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

LRP5, COL1A1, COL1A2, VDR, CALCR
Specificity
20 %
Genes
100 %

Alternate names

Ehlers-danlos Syndrome, Type Vii, Autosomal Dominant Is also known as ehlers-danlos syndrome, arthrochalasia type, eds viia;eds7a, arthrochalasis multiplex congenita, eds vii, mutant procollagen type.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PAPILLOMA OF CHOROID PLEXUS; CPP HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

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