Osteogenesis Imperfecta, Type Iv; Oi4

Description

Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in over 90% of cases. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes: OI type I with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclera (OMIM ); and OI type IV, with normal sclerae. Levin et al. (1978) suggested that OI subtypes could be further divided into types A and B based on the absence or presence of dentinogenesis imperfecta.

Clinical Features

Top most frequent phenotypes and symptoms related to Osteogenesis Imperfecta, Type Iv; Oi4

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nevus
  • Kyphosis
  • Bruising susceptibility
  • Recurrent fractures
  • Blue sclerae
  • Wormian bones
  • Reduced bone mineral density
And another 6 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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Osteogenesis Imperfecta, Type Iv; Oi4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

GORAB, B3GAT3, NBAS, CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, XYLT2, SPARC, TAPT1, PLS3, MBTPS2, TNFRSF11B, PPIB, PLOD2, CRTAP, P3H1 , (...)

View the complete list with 10 more genes
Specificity
34 %
Genes
100 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.

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

DMP1, SLC34A3, ENPP1, CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, FGF23, PHEX, CASR, PPIB, PLOD2, CRTAP, P3H1, SP7 , (...)

View the complete list with 7 more genes
Specificity
38 %
Genes
100 %
Osteogenesis imperfecta (NGS panel for 16 genes).

By CGC Genetics in Portugal.

CREB3L1, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, IFITM5, FKBP10
Specificity
57 %
Genes
90 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1 , (...)

View the complete list with 238 more genes
Specificity
4 %
Genes
90 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, FKBP10, ALPL
Specificity
48 %
Genes
90 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DMP1, SLC34A3, ENPP1, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, FGF23, PHEX, PPIB, CYP27B1, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2 , (...)

View the complete list with 5 more genes
Specificity
36 %
Genes
90 %
Osteogenesis Imperfecta via TMEM38B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TMEM38B
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

SERPINH1, WNT1, BMP1, TMEM38B, SPARC, TAPT1, PLS3, MBTPS2, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, CREB3L1, P4HB, SEC24D , (...)

View the complete list with 4 more genes
Specificity
42 %
Genes
100 %
Osteogenesis imperfecta Deletion / Duplication panel - Recessive.

By Connective Tissue Gene Tests in United States.

CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, TAPT1, PLS3, MBTPS2, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, LRP5, FKBP10, ALPL
Specificity
43 %
Genes
80 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, TAPT1, PLS3, MBTPS2, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1 , (...)

View the complete list with 4 more genes
Specificity
42 %
Genes
100 %
Osteogenesis imperfecta NGS panel - Recessive.

By Connective Tissue Gene Tests in United States.

CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, TAPT1, PLS3, MBTPS2, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, LRP5, FKBP10, ALPL
Specificity
43 %
Genes
80 %
Osteogenesis imperfecta Comprehensive panel - Recessive.

By Connective Tissue Gene Tests in United States.

CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, TAPT1, PLS3, MBTPS2, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, LRP5, FKBP10, ALPL
Specificity
43 %
Genes
80 %
Osteogenesis imperfecta NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, TAPT1, PLS3, MBTPS2, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1 , (...)

View the complete list with 4 more genes
Specificity
42 %
Genes
100 %
TMEM38B-related osteogenesis imperfecta.

By Institute of Human Genetics Cologne University in Germany.

TMEM38B
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta and osteoporosis - different panels.

By Institute of Human Genetics Cologne University in Germany.

MMP2, CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5 , (...)

View the complete list with 3 more genes
Specificity
44 %
Genes
100 %
Osteogenesis imperfecta type 14.

By Centogene AG - the Rare Disease Company in Germany.

TMEM38B
Specificity
100 %
Genes
10 %
Chondrodysplasia punctata Panel.

By CeGaT GmbH in Germany.

GORAB, SERPINH1, WNT1, BMP1, TMEM38B, PLS3, ANO5, TNFRSF11B, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, ATP6V0A2, PYCR1, COL1A2, COL1A1, LRP5, IFITM5 , (...)

View the complete list with 2 more genes
Specificity
41 %
Genes
90 %
TMEM38B mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

TMEM38B
Specificity
100 %
Genes
10 %
OI panel 2.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

B3GALT6, CREB3L1, P4HB, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, XYLT2, SPARC, TAPT1, MBTPS2, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, FKBP10
Specificity
43 %
Genes
80 %
NGS panel - Osteogenesis Imperfecta and related disorders.

By Genome Diagnostics VU University Medical Center in Netherlands.

CREB3L1, SERPINH1, WNT1, BMP1, TMEM38B, TAPT1, PLS3, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, FKBP10, ALPL
Specificity
48 %
Genes
90 %
TMEM38B.

By Fulgent Genetics Fulgent Genetics in United States.

TMEM38B
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta Panel.

By Blueprint Genetics in Finland.

SLC34A3, CLCN5, B3GAT3, CREB3L1, SEC24D, SERPINH1, WNT1, BMP1, TMEM38B, SPARC, PLS3, MBTPS2, FGF23, PHEX, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1 , (...)

View the complete list with 7 more genes
Specificity
38 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...)

View the complete list with 226 more genes
Specificity
4 %
Genes
90 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...)

View the complete list with 288 more genes
Specificity
4 %
Genes
100 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

PAM16, INPPL1, ROR2, ESCO2, DYNC2H1, EVC2, EVC, IFT80, SERPINH1, WNT1, BMP1, TMEM38B, SOX9, TWIST1, COL11A1, FGFR1, SLC26A2, PEX7, FGFR2, FGFR3 , (...)

View the complete list with 13 more genes
Specificity
28 %
Genes
90 %
Osteogenesis Imperfecta Type XIV , Sequencing TMEM38B Gene.

By Reference Laboratory Genetics in Spain.

TMEM38B
Specificity
100 %
Genes
10 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
2 %
Genes
70 %
SP7 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

SP7
Specificity
100 %
Genes
10 %
SP7 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SP7
Specificity
100 %
Genes
10 %
SP7 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SP7
Specificity
100 %
Genes
10 %
SP7 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SP7
Specificity
100 %
Genes
10 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

COL5A2, COL5A1, TNFRSF11B, PPIB, PLOD2, CRTAP, P3H1, SLC9A3R1, SLC39A13, PLOD3, SP7, SERPINF1, FBN1, TNFRSF11A, SLC34A1, COL3A1, COL1A2, COL1A1, IFITM5, B4GALT7 , (...)

View the complete list with 2 more genes
Specificity
32 %
Genes
70 %
Osteogenesis Imperfecta, autosomal recessive-SP7.

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

SP7
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta type XII (sequence analysis of SP7 gene).

By CGC Genetics in Portugal.

SP7
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta via SP7 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SP7
Specificity
100 %
Genes
10 %
SP7-related osteogenesis imperfecta.

By Institute of Human Genetics Cologne University in Germany.

SP7
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta panel, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

SERPINH1, BMP1, PPIB, PLOD2, CRTAP, P3H1, SP7, FKBP10
Specificity
50 %
Genes
40 %
Osteogenesis imperfecta, type XII.

By Centogene AG - the Rare Disease Company in Germany.

SP7
Specificity
100 %
Genes
10 %
SP7 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

SP7
Specificity
100 %
Genes
10 %
OSTEOGENESIS IMPERFECTA.

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

SERPINH1, BMP1, ANO5, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, LRP5, IFITM5, FKBP10
Specificity
50 %
Genes
70 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAFB, MMP2, DMP1, SLC34A3, CLCN5, ENPP1, NOTCH2, TREM2, GORAB, SERPINH1, GNAS, ZMPSTE24, ANO5, FGF23, PHEX, CASR, LMNA, PPIB, PLOD2, CRTAP , (...)

View the complete list with 14 more genes
Specificity
18 %
Genes
60 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 143 more genes
Specificity
4 %
Genes
60 %
Amelogenesis Imperfecta NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

WDR72, MMP20, KLK4, ENAM, FAM83H, DLX3, AMELX, FAM20A, SERPINH1, BMP1, DSPP, PPIB, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, IFITM5, FKBP10
Specificity
35 %
Genes
70 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 141 more genes
Specificity
4 %
Genes
60 %
SP7.

By Fulgent Genetics Fulgent Genetics in United States.

SP7
Specificity
100 %
Genes
10 %
OSTEOGENESIS IMPERFECTA (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

SERPINH1, WNT1, BMP1, PPIB, CRTAP, P3H1, SP7, SERPINF1, FKBP10
Specificity
67 %
Genes
60 %
Osteogenesis Imperfecta , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

SERPINH1, BMP1, PPIB, PLOD2, CRTAP, P3H1, SP7, SERPINF1, COL1A2, COL1A1, IFITM5, FKBP10
Specificity
59 %
Genes
70 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP6V1E1, AEBP1, ATP6V1A, LZTS1, ATP6AP1, FLNB, DSE, CHST3, RIN2, TNFRSF1A, GGCX, B3GALT6, C1R, C1S, GORAB, B3GAT3, SPARC, COL12A1, EFEMP2, ZNF469 , (...)

View the complete list with 25 more genes
Specificity
7 %
Genes
30 %
SPARC-related osteogenesis imperfecta.

By Institute of Human Genetics Cologne University in Germany.

SPARC
Specificity
100 %
Genes
10 %
SPARC.

By Fulgent Genetics Fulgent Genetics in United States.

SPARC
Specificity
100 %
Genes
10 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

AURKA, TOP1, ABCC1, SLC29A1, STK11IP, SYK, SULT1A1, XRCC1, TOP2A, TOP2B, PLK1, JAK1, JUN, IKBKE, BCL2L2, AURKB, MDM4, MAP2K4, EMSY, CHEK1 , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
10 %
SERPINF1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SERPINF1
Specificity
100 %
Genes
10 %
SERPINF1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SERPINF1
Specificity
100 %
Genes
10 %
SERPINF1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SERPINF1
Specificity
100 %
Genes
10 %
SERPINF1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

SERPINF1
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta, autosomal recessive-SERPINF1.

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

SERPINF1
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta via SERPINF1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SERPINF1
Specificity
100 %
Genes
10 %
SERPINF1-related osteogenesis imperfecta.

By Institute of Human Genetics Cologne University in Germany.

SERPINF1
Specificity
100 %
Genes
10 %
SERPINF1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

SERPINF1
Specificity
100 %
Genes
10 %
SERPINF1.

By Fulgent Genetics Fulgent Genetics in United States.

SERPINF1
Specificity
100 %
Genes
10 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ACAN, PAPSS2, DVL1, XYLT1, IHH, NPR2, MMP9, INPPL1, MATN3, TRAPPC2, GDF5, ADAMTS10, TRIP11, LIFR, FLNB, ACP5, DLL3, CHST3, WISP3, SLC34A3 , (...)

View the complete list with 91 more genes
Specificity
6 %
Genes
60 %
Skeletal Dysplasia with Abnormal Mineralization Panel.

By Blueprint Genetics in Finland.

SNX10, GALNT3, SLC34A3, CLCN5, ENPP1, PTDSS1, MGP, PLS3, SOX9, FGF23, PHEX, CASR, VDR, COL5A2, COL5A1, TNFRSF11B, PPIB, CYP27B1, PLOD2, CRTAP , (...)

View the complete list with 12 more genes
Specificity
19 %
Genes
60 %
Osteogenesis Imperfecta via WNT1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WNT1
Specificity
100 %
Genes
10 %
WNT1-related osteogenesis imperfecta.

By Institute of Human Genetics Cologne University in Germany.

WNT1
Specificity
100 %
Genes
10 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
10 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
10 %
WNT1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

WNT1
Specificity
100 %
Genes
10 %
WNT1.

By Fulgent Genetics Fulgent Genetics in United States.

WNT1
Specificity
100 %
Genes
10 %
CNS Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
10 %
Osteogenesis Imperfecta Type XV , Sequencing WNT1 Gene.

By Reference Laboratory Genetics in Spain.

WNT1
Specificity
100 %
Genes
10 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
20 %
CRTAP Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CRTAP
Specificity
100 %
Genes
10 %
CRTAP Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

CRTAP
Specificity
100 %
Genes
10 %
CRTAP Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CRTAP
Specificity
100 %
Genes
10 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).

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

TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35 , (...)

View the complete list with 19 more genes
Specificity
13 %
Genes
50 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal.

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

TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35 , (...)

View the complete list with 19 more genes
Specificity
13 %
Genes
50 %
Osteogenesis Imperfecta, autosomal recessive-CRTAP.

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

CRTAP
Specificity
100 %
Genes
10 %
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.

SOX9, SLC26A2, FGFR3, CRTAP, COL1A2, COL1A1, COL2A1, ALPL
Specificity
38 %
Genes
30 %
COL1A1, COL1A2, CRTAP, LEPRE1. NextGeneDx.Complete sequencing by NGS.

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

CRTAP, COL1A2, COL1A1
Specificity
100 %
Genes
30 %
CRTAP. Complete sequencing.

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

CRTAP
Specificity
100 %
Genes
10 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics in Portugal.

MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)

View the complete list with 11 more genes
Specificity
10 %
Genes
30 %
Osteogenesis imperfecta type VII (sequence analysis of CRTAP gene).

By CGC Genetics in Portugal.

CRTAP
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta via CRTAP Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CRTAP
Specificity
100 %
Genes
10 %
CRTAP-related osteogenesis imperfecta.

By Institute of Human Genetics Cologne University in Germany.

CRTAP
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta type VII.

By Centogene AG - the Rare Disease Company in Germany.

CRTAP
Specificity
100 %
Genes
10 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
30 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
30 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

WDR34, INPPL1, GDF5, TRIP11, SLC35D1, LIFR, FLNB, DLL3, FAM111A, RNU4ATAC, BMPER, ARSE, NEK1, WNT7A, DYNC2H1, TCTN3, IFT80, GNPAT, GLI3, SOX9 , (...)

View the complete list with 24 more genes
Specificity
10 %
Genes
40 %
CRTAP mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

CRTAP
Specificity
100 %
Genes
10 %
Invitae Osteogenesis Imperfecta Panel.

By Invitae in United States.

CRTAP, P3H1, COL1A2, COL1A1
Specificity
75 %
Genes
30 %
Invitae Ehlers-Danlos Syndrome Panel.

By Invitae in United States.

CHST14, FKBP14, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CRTAP, P3H1, SLC39A13, COL3A1, COL1A2, COL1A1, ATP7A
Specificity
22 %
Genes
30 %
Osteogenesis imperfecta: CRTAP gene sequence analysis.

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

CRTAP
Specificity
100 %
Genes
10 %
CRTAP.

By Fulgent Genetics Fulgent Genetics in United States.

CRTAP
Specificity
100 %
Genes
10 %
OSTEOGENON.

By PentaCoreLab in Hungary.

CRTAP, P3H1, COL1A2, COL1A1
Specificity
75 %
Genes
30 %
Osteogenesis Imperfecta type VII.

By Bioarray in Spain.

CRTAP
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta , Sequencing CRTAP Gene.

By Reference Laboratory Genetics in Spain.

CRTAP
Specificity
100 %
Genes
10 %
PPIB Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PPIB
Specificity
100 %
Genes
10 %
PPIB Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PPIB
Specificity
100 %
Genes
10 %
PPIB Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PPIB
Specificity
100 %
Genes
10 %
PPIB Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PPIB
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta, autosomal recessive-PPIB.

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

PPIB
Specificity
100 %
Genes
10 %
PPIB. Complete sequencing.

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

PPIB
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta type IX (sequence analysis of PPIB gene).

By CGC Genetics in Portugal.

PPIB
Specificity
100 %
Genes
10 %
PPIB-related osteogenesis imperfecta.

By Institute of Human Genetics Cologne University in Germany.

PPIB
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta type IX.

By Centogene AG - the Rare Disease Company in Germany.

PPIB
Specificity
100 %
Genes
10 %
PPIB mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

PPIB
Specificity
100 %
Genes
10 %
PPIB.

By Fulgent Genetics Fulgent Genetics in United States.

PPIB
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta type IX.

By Bioarray in Spain.

PPIB
Specificity
100 %
Genes
10 %
COL1A2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COL1A2
Specificity
100 %
Genes
10 %
COL1A2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COL1A2
Specificity
100 %
Genes
10 %
COL1A2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

COL1A2
Specificity
100 %
Genes
10 %
COL1A1/2 Related Disorders Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories in United States.

NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
20 %
Osteogenesis Imperfecta Evaluation.

By Athena Diagnostics Inc in United States.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
COL1A2 (OI) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

COL1A2
Specificity
100 %
Genes
10 %
NGS Skeletal Dysplasia Panel.

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

SOX9, COMP, FLNA, HSPG2, TRPV4, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1
Specificity
20 %
Genes
20 %
NGS Connective Tissue Disorders Panel.

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

ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A1, PKD2 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
20 %
Osteogenesis Imperfecta.

By Center for Human Genetics, Inc in United States.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Connective Tissue Disorders 22-gene panel.

By Center for Human Genetics, Inc in United States.

NTM, TGFBR3, PRKG1, MYH11, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A2, COL11A1, FLNA, COL5A2, COL5A1, FBN1, COL3A1, COL1A2 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
20 %
COL1A1/COL1A2-Related Osteogenesis Imperfecta genomic sequencing and deletion/duplication analysis.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Autosomal Dominant Osteogenesis imperfecta panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL1A2, COL1A1, IFITM5
Specificity
67 %
Genes
20 %
Ehlers-Danlos type VII (EDS VII) genomic sequencing and deletion/duplication analysis.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Comprehensive Ehlers-Danlos Syndrome Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

C1R, C1S, CHST14, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, ATP7A
Specificity
16 %
Genes
20 %
Connective Tissue Disorders Panel.

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

B3GALT6, TGFB3, ZNF469, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
20 %
Familial Aneurysm and Aortopathy.

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

B3GALT6, TGFB3, ZNF469, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
20 %
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
10 %
COL1A2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

COL1A2
Specificity
100 %
Genes
10 %
Connective Tissue Disorders Panel.

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

ADAMTS10, SMAD2, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
20 %
Ehlers-Danlos Syndrome, Arthrochalasia Type.

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

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Osteogenesis Imperfecta, autosomal dominant.

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

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
COL1A2. Complete sequencing.

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

COL1A2
Specificity
100 %
Genes
10 %
COL1A1, COL1A2. NextGeneDx.Complete sequencing by NGS.

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

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
COL1A2. MLPA testing.

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

COL1A2
Specificity
100 %
Genes
10 %
COL1A1, COL1A2. MLPA testing.

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

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Osteogenesis Imperfecta Seq + Del/Dup Panel.

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

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Connective Tissue Seq Analysis.

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

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
20 %
Connective Tissue Seq + Del/Dup Panel.

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

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
20 %
Connective Tissue Del/Dup Panel.

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

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
20 %
Osteogenesis Imperfecta Seq Analysis.

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

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Osteogenesis Imperfecta Del/Dep Panel.

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

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Osteogenesis imperfecta type 1, 2, 3, 4 (sequence analysis of COL1A1 and COL1A2 genes).

By CGC Genetics in Portugal.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Osteogenesis Imperfecta (sequence analysis of COL1A2 gene).

By CGC Genetics in Portugal.

COL1A2
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome type 1 (sequence analysis of COL1A1 and COL1A2 genes).

By CGC Genetics in Portugal.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Ehlers-Danlos syndrome type VII (sequence analysis of COL1A1 and COL1A2 genes).

By CGC Genetics in Portugal.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Ehlers-Danlos syndrome type VIIB (sequence analysis of COL1A2 gene).

By CGC Genetics in Portugal.

COL1A2
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome (NGS panel for 12 genes).

By CGC Genetics in Portugal.

CHST14, TNXB, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
17 %
Genes
20 %
Deletion/duplication analysis of COL1A2 gene.

By CGC Genetics in Portugal.

COL1A2
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A2 gene).

By CGC Genetics in Portugal.

COL1A2
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A2 gene).

By CGC Genetics in Portugal.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta via the COL1A2 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL1A2
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

DSE, B3GALT6, C1R, C1S, COL12A1, ZNF469, CHST14, PRDM5, FKBP14, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7, ATP7A
Specificity
10 %
Genes
20 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant.

By Connective Tissue Gene Tests in United States.

C1R, C1S, COL12A1, FLNA, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
23 %
Genes
20 %
Ehlers-Danlos syndrome NGS panel - Dominant.

By Connective Tissue Gene Tests in United States.

C1R, C1S, COL12A1, FLNA, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
23 %
Genes
20 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant.

By Connective Tissue Gene Tests in United States.

C1R, C1S, COL12A1, FLNA, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
23 %
Genes
20 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

DSE, B3GALT6, C1R, C1S, COL12A1, ZNF469, CHST14, PRDM5, FKBP14, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7, ATP7A
Specificity
10 %
Genes
20 %
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

DSE, B3GALT6, C1R, C1S, COL12A1, ZNF469, CHST14, PRDM5, FKBP14, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7, ATP7A
Specificity
10 %
Genes
20 %
Osteogenesis imperfecta COL1A1 & COL1A2 Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Osteogenesis imperfecta COL1A1 & COL1A2 NGS panel.

By Connective Tissue Gene Tests in United States.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Osteogenesis imperfecta COL1A1 & COL1A2 Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Skeletal dysplasia core & extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
20 %
Osteogenesis imperfecta Comprehensive panel - Dominant.

By Connective Tissue Gene Tests in United States.

P4HB, PLS3, ANO5, COL1A2, COL1A1, IFITM5, ALPL
Specificity
29 %
Genes
20 %
Osteogenesis imperfecta core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL1A2, COL1A1, IFITM5
Specificity
67 %
Genes
20 %
Skeletal dysplasia core & extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
20 %
Skeletal dysplasia core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

INPPL1, TRIP11, NKX3-2, SOX9, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
20 %
Genes
20 %
Skeletal dysplasia core NGS panel.

By Connective Tissue Gene Tests in United States.

INPPL1, TRIP11, NKX3-2, SOX9, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
20 %
Genes
20 %
Osteogenesis imperfecta core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL1A2, COL1A1, IFITM5
Specificity
67 %
Genes
20 %
Skeletal dysplasia core & extended NGS panel.

By Connective Tissue Gene Tests in United States.

MMP9, INPPL1, MMP13, DDR2, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, ARSE, SOX9, NSDHL, EBP, PTH1R, COL11A2, COL11A1, LBR, HSPG2, TRPV4, SLC26A2 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
20 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant.

By Connective Tissue Gene Tests in United States.

P4HB, PLS3, ANO5, COL1A2, COL1A1, IFITM5, ALPL
Specificity
29 %
Genes
20 %
Osteogenesis imperfecta NGS panel - Dominant.

By Connective Tissue Gene Tests in United States.

P4HB, PLS3, ANO5, COL1A2, COL1A1, IFITM5, ALPL
Specificity
29 %
Genes
20 %
Skeletal dysplasia core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

INPPL1, TRIP11, NKX3-2, SOX9, SLC26A2, FGFR3, COL1A2, COL1A1, COL2A1, ALPL
Specificity
20 %
Genes
20 %
Osteogenesis imperfecta core NGS panel.

By Connective Tissue Gene Tests in United States.

COL1A2, COL1A1, IFITM5
Specificity
67 %
Genes
20 %
Osteogenesis imperfecta, types I, II, III & IV NGS Test B.

By Connective Tissue Gene Tests in United States.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta, types I, II, III & IV Comprehensive Test B.

By Connective Tissue Gene Tests in United States.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta, types I, II, III & IV Deletion / Duplication Test B.

By Connective Tissue Gene Tests in United States.

COL1A2
Specificity
100 %
Genes
10 %
Marfan syndrome, EDS and other connective tissue disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

GATA5, DSE, B3GALT6, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, CHST14, TNXB, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
20 %
Ehlers-Danlos Syndrome (EDS).

By MGZ Medical Genetics Center in Germany.

ZNF469, CHST14, TNXB, PRDM5, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
15 %
Genes
20 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469 , (...)

View the complete list with 47 more genes
Specificity
3 %
Genes
20 %
Ehlers-Danlos Syndrome Type VIIB.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL1A2
Specificity
100 %
Genes
10 %
COL1A1/2-Related Osteogenesis Imperfecta.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Ehlers Danlos syndrome.

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

PLOD1, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
34 %
Genes
20 %
Osteogenesis Imperfecta.

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

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Ehlers-Danlos syndrome type VIIC.

By Centogene AG - the Rare Disease Company in Germany.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta.

By Centogene AG - the Rare Disease Company in Germany.

COL1A2
Specificity
100 %
Genes
10 %
COL1A1/2-Related Osteogenesis Imperfecta.

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

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Ehlers-Danlos Syndrome Type VIIB.

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

COL1A2
Specificity
100 %
Genes
10 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

DSE, RIN2, B3GALT6, MAT2A, GORAB, MFAP5, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
20 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

DSE, RIN2, B3GALT6, MAT2A, GORAB, MFAP5, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
20 %
Osteogenesis imperfecta.

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

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Ehlers-Danlos Syndrome.

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

PLOD1, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
34 %
Genes
20 %
COL1A1/2-Related Osteogenesis Imperfecta.

By Innovagenomics Innovagenomics S.L in Spain.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
COL1A1/2-Related Osteogenesis Imperfecta.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Ehlers-Danlos Syndrome, Arthrochalasia Type (EDS VIIA/VIIB).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
COL1A2 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL1A2
Specificity
100 %
Genes
10 %
OI panel 1.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL1A2, COL1A1, IFITM5
Specificity
67 %
Genes
20 %
Osteogenesis Imperfecta (OI), COL1A1/COL1A2 sequencing.

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

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
20 %
Aortic Valvular Diseases Panel.

By Health in Code in Spain.

ADAMTSL4, PRKG1, NKX2-5, TGFB3, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PTPN11, PLOD1 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
20 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
20 %
Aortic diseases Panel.

By Health in Code in Spain.

GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
20 %
Osteogenesis Imperfecta.

By Molecular Vision Laboratory in United States.

P3H1, COL1A2, COL1A1
Specificity
67 %
Genes
20 %
COL1A2 single gene sequencing.

By Molecular Vision Laboratory in United States.

COL1A2
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome VIIB.

By Praxis fuer Humangenetik Wien in Austria.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta III.

By Praxis fuer Humangenetik Wien in Austria.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta II.

By Praxis fuer Humangenetik Wien in Austria.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta IV.

By Praxis fuer Humangenetik Wien in Austria.

COL1A2
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome VIIB.

By MedGene in Slovakia.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta II.

By MedGene in Slovakia.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta III.

By MedGene in Slovakia.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta IV.

By MedGene in Slovakia.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta: COL1A2 gene sequence analysis.

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

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta: COL1A1 and COL1A2 genes sequence analysis..

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

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
EHLERS-DANLOS, SYNDROME.

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

CHST14, TNXB, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
19 %
Genes
20 %
Skeletal dysplasias.

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

MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
20 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded).

By Genome Diagnostics VU University Medical Center in Netherlands.

FLNB, DSE, CHST3, B3GALT6, B3GAT3, COL12A1, ZNF469, CHST14, TNXB, PRDM5, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, COL1A2, COL1A1, B4GALT7
Specificity
10 %
Genes
20 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1.

By Genome Diagnostics VU University Medical Center in Netherlands.

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

View the complete list with 1 more genes
Specificity
10 %
Genes
20 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded).

By Genome Diagnostics VU University Medical Center in Netherlands.

FLNB, DSE, CHST3, B3GALT6, B3GAT3, COL12A1, ZNF469, CHST14, TNXB, PRDM5, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, PLOD3, COL1A2, COL1A1, B4GALT7
Specificity
10 %
Genes
20 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1.

By Genome Diagnostics VU University Medical Center in Netherlands.

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

View the complete list with 1 more genes
Specificity
10 %
Genes
20 %
COL1A2 - Gene Sequencing & Del/Dup analysis.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL1A2
Specificity
100 %
Genes
10 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA.

By Genome Diagnostics VU University Medical Center in Netherlands.

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

View the complete list with 1 more genes
Specificity
10 %
Genes
20 %
Connective Tissue Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
20 %
Connective Tissue Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
20 %
Connective Tissue NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACVR1, ZNF469, ABCC6, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, COL4A1, PKD2, ADAMTS2, PLOD1, COL5A2 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
20 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
10 %
Osteogenesis Imperfecta NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
COL1A2.

By Fulgent Genetics Fulgent Genetics in United States.

COL1A2
Specificity
100 %
Genes
10 %
Ehlers-Danlos.

By PentaCoreLab in Hungary.

TNXB, ADAMTS2, PLOD1, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
25 %
Genes
20 %
Marfan Syndrome Panel.

By Blueprint Genetics in Finland.

ADAMTS17, VCAN, SMAD6, ADAMTS10, ADAMTSL4, ABL1, BGN, MAT2A, TGFB3, EFEMP2, SLC2A10, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, UPF3B, MED12, COL11A2 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
20 %
Aorta Panel.

By Blueprint Genetics in Finland.

ADAMTS17, SMAD6, ADAMTS10, GATA5, ADAMTSL4, ENPP1, ABL1, BGN, SMAD2, MAT2A, MFAP5, TGFB3, EFEMP2, ZNF469, ABCC6, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
20 %
Ehlers-Danlos Syndrome Panel.

By Blueprint Genetics in Finland.

DSE, BGN, EFEMP2, ZNF469, ABCC6, CHST14, FKBP14, FBN2, TGFBR2, TGFBR1, SMAD3, TGFB2, COL11A1, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13 , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
20 %
Osteogenesis Imperfecta type III.

By Bioarray in Spain.

COL1A2
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome, arthrochalasic type.

By Bioarray in Spain.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta.

By Bioarray in Spain.

COL1A2
Specificity
100 %
Genes
10 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3 , (...)

View the complete list with 46 more genes
Specificity
4 %
Genes
20 %
OSTEOGENESIS IMPERFECTA (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
EHLERS-DANLOS SYNDROME, ARTROCALASIA, TYPE 7A & 7B.

By Laboratorio de Genetica Clinica SL in Spain.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
EHLERS-DANLOS SYNDROME: NGS PANEL-1.

By Laboratorio de Genetica Clinica SL in Spain.

TNXB, PLOD1, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
29 %
Genes
20 %
EHLERS-DANLOS SYNDROME: NGS PANEL-2.

By Laboratorio de Genetica Clinica SL in Spain.

DSE, B3GALT6, CHST14, TNXB, FKBP14, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
14 %
Genes
20 %
Ehlers-Danlos syndrome and related disorders panel.

By LifeLabs Genetics in Canada.

FKBP14, PLOD1, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1
Specificity
29 %
Genes
20 %
Osteogenesis Imperfecta , Deletions-Duplications (MLPA) COL1A2 Gene.

By Reference Laboratory Genetics in Spain.

COL1A2
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta , Panel massive Sequencing (NGS) (COL1A1,COL1A2) Genes.

By Reference Laboratory Genetics in Spain.

COL1A2, COL1A1
Specificity
100 %
Genes
20 %
Ehlers-Danlos Syndrome Type VIIB , Sequencing COL1A2 Gene.

By Reference Laboratory Genetics in Spain.

COL1A2
Specificity
100 %
Genes
10 %
Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

B3GALT6, CHST14, TNXB, FKBP14, ADAMTS2, PLOD1, COL5A2, COL5A1, SLC39A13, COL3A1, COL1A2, COL1A1, B4GALT7
Specificity
16 %
Genes
20 %
Osteogenesis Imperfecta , Massive Sequencing COL1A2 Gene.

By Reference Laboratory Genetics in Spain.

COL1A2
Specificity
100 %
Genes
10 %
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes.

By Reference Laboratory Genetics in Spain.

ADAMTS10, TGFB3, EFEMP2, ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2 , (...)

View the complete list with 19 more genes
Specificity
6 %
Genes
20 %
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes.

By Reference Laboratory Genetics in Spain.

MMP9, MMP13, DDR2, MATN3, TRIP11, SLC35D1, LIFR, FLNB, NKX3-2, WISP3, ARSE, EVC2, EVC, SOX9, COMP, NSDHL, EBP, PTH1R, COL11A2, COL11A1 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
20 %
Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

CALCR, VDR, COL1A2, COL1A1, LRP5
Specificity
40 %
Genes
20 %
COL1A1 (OI) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

COL1A1
Specificity
100 %
Genes
10 %
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

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

MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, PLOD1, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1, COL1A1, FBLN5
Specificity
5 %
Genes
10 %
Caffey disease.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL1A1
Specificity
100 %
Genes
10 %
COL1A1 Sequencing.

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

COL1A1
Specificity
100 %
Genes
10 %
COL1A1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

COL1A1
Specificity
100 %
Genes
10 %
COL1A1. MLPA testing.

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

COL1A1
Specificity
100 %
Genes
10 %
COL1A1. Complete sequencing.

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

COL1A1
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta (sequence analysis of COL1A1 gene).

By CGC Genetics in Portugal.

COL1A1
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta (deletion/duplication analysis of COL1A1 gene).

By CGC Genetics in Portugal.

COL1A1
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A1 gene).

By CGC Genetics in Portugal.

COL1A1
Specificity
100 %
Genes
10 %
Caffey disease (sequence analysis of COL1A1 gene).

By CGC Genetics in Portugal.

COL1A1
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A1 gene).

By CGC Genetics in Portugal.

COL1A1
Specificity
100 %
Genes
10 %
Caffey disease (sequence analysis of COL1A1 gene).

By CGC Genetics in Portugal.

COL1A1
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta via the COL1A1 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL1A1
Specificity
100 %
Genes
10 %
Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

SLCO2A1, DLX3, MTAP, HPGD, PTDSS1, LRP4, TBXAS1, GJA1, TNFRSF11B, TGFB1, SOST, COL1A1, TYROBP, ANKH
Specificity
8 %
Genes
10 %
Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLCO2A1, DLX3, MTAP, HPGD, PTDSS1, LRP4, TBXAS1, GJA1, TNFRSF11B, TGFB1, SOST, COL1A1, TYROBP, ANKH
Specificity
8 %
Genes
10 %
Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLCO2A1, DLX3, MTAP, HPGD, PTDSS1, LRP4, TBXAS1, GJA1, TNFRSF11B, TGFB1, SOST, COL1A1, TYROBP, ANKH
Specificity
8 %
Genes
10 %
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLCO2A1, SNX10, PLEKHM1, DLX3, MTAP, HPGD, PTDSS1, LRP4, TBXAS1, FERMT3, GJA1, TNFRSF11B, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, AMER1, CLCN7 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
10 %
Osteopetrosis and Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

SLCO2A1, SNX10, PLEKHM1, DLX3, MTAP, HPGD, PTDSS1, LRP4, TBXAS1, FERMT3, GJA1, TNFRSF11B, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, AMER1, CLCN7 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
10 %
Osteopetrosis and Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLCO2A1, SNX10, PLEKHM1, DLX3, MTAP, HPGD, PTDSS1, LRP4, TBXAS1, FERMT3, GJA1, TNFRSF11B, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, AMER1, CLCN7 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
10 %
Osteogenesis imperfecta, types I, II, III & IV Comprehensive Test A.

By Connective Tissue Gene Tests in United States.

COL1A1
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta, types I, II, III & IV NGS Test A.

By Connective Tissue Gene Tests in United States.

COL1A1
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta, types I, II, III & IV Deletion / Duplication Test A.

By Connective Tissue Gene Tests in United States.

COL1A1
Specificity
100 %
Genes
10 %
COL1A1/2-related osteogenesis imperfecta.

By Institute of Human Genetics Cologne University in Germany.

COL1A1
Specificity
100 %
Genes
10 %
Caffey Disease.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL1A1
Specificity
100 %
Genes
10 %
Ehlers-Danlos Syndrome Type VIIA.

By Bioscientia GmbH Center for Human Genetics in Germany.

COL1A1
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome type VIIA.

By Centogene AG - the Rare Disease Company in Germany.

COL1A1
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta.

By Centogene AG - the Rare Disease Company in Germany.

COL1A1
Specificity
100 %
Genes
10 %
Ehlers-Danlos Syndrome Type VIIA.

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

COL1A1
Specificity
100 %
Genes
10 %
Skeletal dysplasia with increased bone density Panel.

By CeGaT GmbH in Germany.

SLCO2A1, SNX10, PLEKHM1, DLX3, MTAP, HPGD, PTDSS1, LRP4, TBXAS1, DHCR24, GJA1, PTH1R, TNFRSF11B, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, AMER1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
10 %
Caffey Disease, COL1A1.

By GGA - Galil Genetic Analysis in Israel.

COL1A1
Specificity
100 %
Genes
10 %
COL1A1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL1A1
Specificity
100 %
Genes
10 %
Caffey disease, COL1A1, R836C sequencing.

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

COL1A1
Specificity
100 %
Genes
10 %
COL1A1.

By Molecular Vision Laboratory in United States.

COL1A1
Specificity
100 %
Genes
10 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

SERPIND1, HRG, PLA2G4A, C4BPB, C4BPA, LMAN1, SERPINC1, F13A1, F10, GP9, ACTN1, CFHR4, F7, VKORC1, PROC, RBM8A, G6PC3, STXBP2, ELANE, GP1BB , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
10 %
Caffey disease.

By Praxis fuer Humangenetik Wien in Austria.

COL1A1
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome I.

By Praxis fuer Humangenetik Wien in Austria.

COL1A1
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome VIIA.

By Praxis fuer Humangenetik Wien in Austria.

COL1A1
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta I.

By Praxis fuer Humangenetik Wien in Austria.

COL1A1
Specificity
100 %
Genes
10 %
Caffey disease.

By MedGene in Slovakia.

COL1A1
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome I.

By MedGene in Slovakia.

COL1A1
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome VIIA.

By MedGene in Slovakia.

COL1A1
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta I.

By MedGene in Slovakia.

COL1A1
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta: COL1A1 gene sequence analysis.

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

COL1A1
Specificity
100 %
Genes
10 %
COL1A1 - Gene Sequencing & Del/Dup analysis.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL1A1
Specificity
100 %
Genes
10 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
10 %
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RASGRP2, DLX3, HPGD, GALNT3, LRP4, TBXAS1, FERMT3, TNFRSF11B, TCIRG1, TNFSF11, OSTM1, CA2, CTSK, CLCN7, TNFRSF11A, LEMD3, TGFB1, SOST, COL1A1, LRP5 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
10 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
10 %
COL1A1.

By Fulgent Genetics Fulgent Genetics in United States.

COL1A1
Specificity
100 %
Genes
10 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

NUTM2B, NUTM2A, SSX2, MALAT1, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, ACSL3, RABEP1, SSX1, SS18, POU5F1, HEY1, JUN , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
10 %
Osteopetrosis and Dense Bone Dysplasia Panel.

By Blueprint Genetics in Finland.

SLCO2A1, SNX10, DLX3, PTDSS1, LRP4, SLC29A3, GJA1, PTH1R, TNFRSF11B, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, CTSK, AMER1, CLCN7, TNFRSF11A, LEMD3, TGFB1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
10 %
Osteogenesis Imperfecta type II.

By Bioarray in Spain.

COL1A1
Specificity
100 %
Genes
10 %
Ehlers-Danlos syndrome, arthrochalasic type.

By Bioarray in Spain.

COL1A1
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta.

By Bioarray in Spain.

COL1A1
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta type I.

By Bioarray in Spain.

COL1A1
Specificity
100 %
Genes
10 %
Ehlers-Danlos Syndrome, Type I Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

COL5A2, COL5A1, COL1A1
Specificity
34 %
Genes
10 %
COL1A1 Gene, entire coding region or targeted variant.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

COL1A1
Specificity
100 %
Genes
10 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
10 %
Osteogenesis Imperfecta , Deletions-Duplications (MLPA) COL1A1 Gene.

By Reference Laboratory Genetics in Spain.

COL1A1
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta , Massive Sequencing COL1A1 Gene.

By Reference Laboratory Genetics in Spain.

COL1A1
Specificity
100 %
Genes
10 %
FKBP10 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FKBP10
Specificity
100 %
Genes
10 %
FKBP10 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FKBP10
Specificity
100 %
Genes
10 %
FKBP10 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FKBP10
Specificity
100 %
Genes
10 %
FKBP10 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

FKBP10
Specificity
100 %
Genes
10 %
Congenital Contractures Panel.

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

MYH8, ERCC6, ERBB3, PIP5K1C, SCARF2, PSMB8, RIPK4, CHMP1A, ECEL1, ZMPSTE24, PITX1, MYBPC1, ZBTB42, CNTNAP1, ADCY6, ADGRG6, GLDN, SLC18A3, PIEZO2, MYH3 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
10 %
Osteogenesis Imperfecta (FKBP10 gene related).

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

FKBP10
Specificity
100 %
Genes
10 %
FKBP10 - Osteogenesis imperfecta type 6.

By Centre of Molecular Diseases (CMM) CHUV in Switzerland.

FKBP10
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta, autosomal recessive-Bruck syndrome 1.

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

FKBP10
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta, autosomal recessive-FKBP10.

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

FKBP10
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta type XI (sequence analysis of FKBP10 gene).

By CGC Genetics in Portugal.

FKBP10
Specificity
100 %
Genes
10 %
Osteogenesis Imperfecta via FKBP10 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FKBP10
Specificity
100 %
Genes
10 %
FKBP10-related osteogenesis imperfecta.

By Institute of Human Genetics Cologne University in Germany.

FKBP10
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta type 11.

By Centogene AG - the Rare Disease Company in Germany.

FKBP10
Specificity
100 %
Genes
10 %
Osteogenesis imperfecta type XI.

By Centogene AG - the Rare Disease Company in Germany.

FKBP10
Specificity
100 %
Genes
10 %
Congenital Myasthenic Syndromes and Arthrogryposis Panel.

By CeGaT GmbH in Germany.

ALG14, LRP4, PREPL, SYT2, MYH8, ERBB3, PIP5K1C, ECEL1, MYBPC1, CNTNAP1, ADCY6, ADGRG6, PIEZO2, MYH3, TNNT3, TNNI2, GLE1, CHST14, FBN2, NALCN , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
10 %
FKBP10 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

FKBP10
Specificity
100 %
Genes
10 %
FKBP10.

By Fulgent Genetics Fulgent Genetics in United States.

FKBP10
Specificity
100 %
Genes
10 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

CHUK, ERCC5, VIPAS39, VPS33B, DHCR24, MYH8, ERCC6, ERBB3, RIPK4, ECEL1, MYBPC1, ZBTB42, CNTNAP1, ADGRG6, PIEZO2, MYH3, TNNT3, TNNI2, GLE1, TGFB3 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
10 %
BRUCKS SYNDROME (OSTEOGENESIS IMPERFECTA-CONGENITAL JOINT CONTRACTURES).

By Laboratorio de Genetica Clinica SL in Spain.

PLOD2, FKBP10
Specificity
50 %
Genes
10 %
Bruck Syndrome Type 1, Sequencing FKBP10 Gene.

By Reference Laboratory Genetics in Spain.

FKBP10
Specificity
100 %
Genes
10 %
Bruck Syndrome , Panel Massive Sequencing (NGS) FKBP10, PLOD2 Genes.

By Reference Laboratory Genetics in Spain.

PLOD2, FKBP10
Specificity
50 %
Genes
10 %

Alternate names

Osteogenesis Imperfecta, Type Iv; Oi4 Is also known as oi, type iv, osteogenesis imperfecta with normal sclerae;oi type 4.



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