Ehlers-danlos Syndrome, Type Vi; Eds6

Description

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton et al., 1998).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.'The major characteristics of EDS type VI are severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe (Beighton et al., 1998).Nevo syndrome, previously thought to be a distinct entity, is identical to EDS type VI (Voermans et al., 2009).

Clinical Features

Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome, Type Vi; Eds6

  • Generalized hypotonia
  • Pica
  • Scoliosis
  • Motor delay
  • Muscular hypotonia
  • Cryptorchidism
  • Muscle weakness
  • Myopathy
  • Flexion contracture
  • Low-set ears
And another 94 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Ehlers-danlos Syndrome, Type Vi; Eds6 have a estimated birth prevalence of 1 per 100k in Europe.


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Ehlers-danlos Syndrome, Type Vi; Eds6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PLOD1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PLOD1
Specificity
100 %
Genes
100 %
PLOD1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

PLOD1
Specificity
100 %
Genes
100 %
PLOD1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

PLOD1
Specificity
100 %
Genes
100 %
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

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

FBLN5, COL1A1, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, PLOD1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
5 %
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 %
Ehlers-Danlos type VI (EDS VI) genomic sequencing and deletion/duplication analysis.

By Collagen Diagnostic Laboratory University of Washington in United States.

PLOD1
Specificity
100 %
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 %
Cardiomyopathy Panel.

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

TTR, GAA, COL3A1, EYA4, DSP, CRYAB, RAF1, FBN1, SCO2, TAZ, COX15, SURF1, CBS, FXN, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS , (...)

View the complete list with 92 more genes
Specificity
1 %
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 %
PLOD1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

PLOD1
Specificity
100 %
Genes
100 %
Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication.

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

PLOD1
Specificity
100 %
Genes
100 %
Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Deletion/Duplication.

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

PLOD1
Specificity
100 %
Genes
100 %
Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes.

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

COL3A1, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2 , (...)

View the complete list with 1 more genes
Specificity
5 %
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 %
Ehlers-Danlos Syndrome, Kyphoscoliotic Type.

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

PLOD1
Specificity
100 %
Genes
100 %
COL3A1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TTR, COL3A1, EYA4, JAG1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, FXN, COL5A1, COL5A2, DMD, GLA, PLOD1, PTPN11, SMAD4, FKTN, LMNA , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
FBN1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
PLOD1. Detección de la duplicación intron 9-16.

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

PLOD1
Specificity
100 %
Genes
100 %
PLOD1. Complete sequencing.

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

PLOD1
Specificity
100 %
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 %
Ehlers-Danlos Syndrome type VI (sequence analysis of PLOD1 gene).

By CGC Genetics in Portugal.

PLOD1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome type VI (deletion/duplication analysis of PLOD1 gene).

By CGC Genetics in Portugal.

PLOD1
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 %
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBLN5, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, SMS, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2 , (...)

View the complete list with 10 more genes
Specificity
4 %
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 %
Ehlers-Danlos Syndrome, Kyphoscoliotic Form via the PLOD1 Gene.

By PreventionGenetics PreventionGenetics in United States.

PLOD1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, B3GALT6, DSE
Specificity
9 %
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 - Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, B3GALT6, DSE
Specificity
9 %
Genes
100 %
Ehlers-Danlos syndrome NGS panel - Recessive.

By Connective Tissue Gene Tests in United States.

ATP7A, B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, PRDM5, CHST14, ZNF469, COL12A1, B3GALT6, DSE
Specificity
9 %
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 %
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 %
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 Sydrome, Kyphoscoliotic Form.

By Bioscientia GmbH Center for Human Genetics in Germany.

PLOD1
Specificity
100 %
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 %
Ehlers-Danlos syndrome type VI.

By Centogene AG - the Rare Disease Company in Germany.

PLOD1
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 %
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 %
Ehlers-Danlos Syndrome.

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

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1
Specificity
17 %
Genes
100 %
PLOD1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

PLOD1
Specificity
100 %
Genes
100 %
Recessive EDS panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, CHST14, B3GAT3, B3GALT6, DSE, XYLT1
Specificity
10 %
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 %
PLOD1 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

PLOD1
Specificity
100 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Invitae Aortopathy Comprehensive Panel.

By Invitae in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 3 more genes
Specificity
5 %
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 %
Ehlers-Danlos syndrome type VI: PLOD1 gene deletions-duplications analysis (MLPA).

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

PLOD1
Specificity
100 %
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 %
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 - Aortic or arterial dilatation / dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2, PRKG1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS panel- Aortic or arterial dilatation/dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2, PRKG1 , (...)

View the complete list with 1 more genes
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 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, COL5A1, PLOD1, SMAD4, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3 , (...)

View the complete list with 3 more genes
Specificity
5 %
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 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, COL5A1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2 , (...)

View the complete list with 2 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 %
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 %
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 %
Ehlers-Danlos Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL3A1, COL5A1, COL5A2, PLOD1
Specificity
25 %
Genes
100 %
PLOD1.

By Fulgent Genetics Fulgent Genetics in United States.

PLOD1
Specificity
100 %
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 %
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 %
Ehlers-Danlos syndrome, type VI.

By Bioarray in Spain.

PLOD1
Specificity
100 %
Genes
100 %
Ehlers-Danlos syndrome, type VI.

By Bioarray in Spain.

PLOD1
Specificity
100 %
Genes
100 %
Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PTEN, PLOD1, NSD1, PTCH1, CDKN1C, GPC3, SETD2, DNMT3A, NFIX, EZH2, RNF135, DIS3L2, TMCO1
Specificity
8 %
Genes
100 %
PLOD1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PLOD1
Specificity
100 %
Genes
100 %
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC, TYPE 6.

By Laboratorio de Genetica Clinica SL in Spain.

PLOD1
Specificity
100 %
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 %
Ehlers-Danlos Syndrome Type VI , Sequencing PLOD1 Gene.

By Reference Laboratory Genetics in Spain.

PLOD1
Specificity
100 %
Genes
100 %
Ehlers-Danlos Syndrome Type VI , Deletions-Duplications (MLPA) PLOD1 Gene.

By Reference Laboratory Genetics in Spain.

PLOD1
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 %
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 %

Alternate names

Ehlers-danlos Syndrome, Type Vi; Eds6 Is also known as ehlers-danlos syndrome, kyphoscoliotic type, eds vi, ehlers-danlos syndrome, ocular-scoliotic type, nevo syndrome, ehlers-danlos syndrome, type via, formerly;eds6a, formerly;eds via; eds, kyphoscoliotic type; eds, oculoscoliotic type; ehlers-danlos syndrome type 6a; ehlers-danlos syndrome, oculoscoliotic type.



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