Aneurysm, Intracranial Berry, 1; Anib1

Description

Rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage (summary by Krischek and Inoue, 2006). Genetic Heterogeneity of Intracranial Berry AneurysmIntracranial berry aneurysm-1 (ANIB1) has been mapped to chromosome 7q11.2.Other mapped loci for intracranial berry aneurysm include ANIB2 (OMIM ) on chromosome 19q13, ANIB3 (OMIM ) on 1p36.13-p34.3, ANIB4 (OMIM ) on 5p15.2-14.3, ANIB5 (OMIM ) on Xp22, ANIB6 (OMIM ) on 9p21, ANIB7 (OMIM ) on 11q24-q25, ANIB8 (OMIM ) on 14q23, ANIB9 (OMIM ) on 2q, ANIB10 (OMIM ) on 8q, and ANIB11 (OMIM ) on 8p22.

Clinical Features

Top most frequent phenotypes and symptoms related to Aneurysm, Intracranial Berry, 1; Anib1

  • Seizures
  • Hypertension
  • Hemiparesis
  • Atherosclerosis
  • Intracranial hemorrhage
  • Visual field defect
  • Aortic dissection
  • Aortic root aneurysm
  • Dilatation of the cerebral artery
  • Subarachnoid hemorrhage
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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Aneurysm, Intracranial Berry, 1; Anib1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
10 %
Genes
50 %
TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS.

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

ELN, FBN1, TGFBR1, TGFBR2, FBN2, ACTA2, TGFBR3
Specificity
15 %
Genes
25 %
AORTOPATHIES, FAMILIAL.

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

FBN1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, TGFBR3, ADAMTSL4
Specificity
12 %
Genes
25 %
TGFBR3.

By Fulgent Genetics Fulgent Genetics in United States.

TGFBR3
Specificity
100 %
Genes
25 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
25 %
Hereditary Colorectal/Gastrointestinal Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2, BMPR1A, SMAD4 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
Comprehensive Pulmonary Panel.

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

INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
25 %
Arterial Hypertension Panel.

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

SMAD4, ENG, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, ABCA3, BMPR2
Specificity
10 %
Genes
25 %
NGS Vascular Disorders Panel.

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

PTEN, GJC2, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, FOXC2, RASA1, SOX18, CCBE1, ACVRL1, GDF2, GLMN, VEGFC, STAMBP, KIF11, PTPN14, TEK , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
Hereditary hemorrhagic telangiectasia - ENG Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

ENG
Specificity
100 %
Genes
25 %
Test for ENG-Related Hereditary Hemorrhagic Telangiectasia.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

ENG
Specificity
100 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

SMAD4, ENG, ACVRL1
Specificity
34 %
Genes
25 %
Pulmonary Arterial Hypertension Panel.

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

SMAD4, ENG, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, KCNA5, ABCA3, BMPR2
Specificity
10 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
25 %
Colorectal Polyposis Panel.

By Genetic Services Laboratory University of Chicago in United States.

APC, MUTYH, PTEN, STK11, BMPR1A, SMAD4, ENG, POLD1, GREM1, POLE, AXIN2, BUB1B
Specificity
9 %
Genes
25 %
Comprehensive Hereditary Colorectal Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CHEK2, BMPR1A, SMAD4, ENG, POLD1, GREM1, POLE, AXIN2, BUB1B , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
25 %
Pulmonary Hypertension Panel (5 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

FOXF1, ENG, ACVRL1, SMAD9, BMPR2
Specificity
20 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication.

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

SMAD4, ENG, ACVRL1
Specificity
34 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing Deletion/Duplication, 5 Genes.

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

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
25 %
Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication, Multigene.

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

ENG, ACVRL1, KCNK3, CAV1, BMPR2
Specificity
20 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication.

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

ENG, ACVRL1
Specificity
50 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing.

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

ENG, ACVRL1
Specificity
50 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication.

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

ENG, ACVRL1
Specificity
50 %
Genes
25 %
Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes.

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

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK
Specificity
8 %
Genes
25 %
HHTNext.

By Ambry Genetics in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
25 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK, PIK3CA, GNAQ, KDR, MAP3K3, DOCK6 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
ENG. Complete sequencing.

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

ENG
Specificity
100 %
Genes
25 %
ACVRL1, ENG, BMPR2. MLPA testing.

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

ENG, ACVRL1, BMPR2
Specificity
34 %
Genes
25 %
ACVRL1, ENG, SMAD4. NextGeneDx. Complete sequencing by NGS.

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

SMAD4, ENG, ACVRL1
Specificity
34 %
Genes
25 %
Pulmonary Hypertension Seq + Del/Dup Panel.

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

FOXF1, SMAD4, ENG, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4
Specificity
8 %
Genes
25 %
Pulmonary Hypertension Seq Analysis.

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

FOXF1, SMAD4, ENG, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4
Specificity
8 %
Genes
25 %
Pulmonary Hypertension Del/Dup Panel.

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

FOXF1, SMAD4, ENG, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4
Specificity
8 %
Genes
25 %
Comprehensive Pulmonary-Vascular Seq Analysis.

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

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
25 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

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

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
25 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

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

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
25 %
Osler-Rendu-Weber disease (sequence analysis of ENG gene).

By CGC Genetics in Portugal.

ENG
Specificity
100 %
Genes
25 %
Rendu-Osler-Weber disease (deletion/duplication analysis of ENG and ACVRL1 genes).

By CGC Genetics in Portugal.

ENG, ACVRL1
Specificity
50 %
Genes
25 %
Hereditary hemorrhagic telangiectasia type 2.

By CGC Genetics in Portugal.

ENG
Specificity
100 %
Genes
25 %
Hereditary hemorrhagic telangiectasia (deletion/duplication analysis of ENG, ALK and BMPR2 genes).

By CGC Genetics in Portugal.

ALK, ENG, BMPR2
Specificity
34 %
Genes
25 %
Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes).

By CGC Genetics in Portugal.

SMAD4, ENG, ACVRL1, GDF2
Specificity
25 %
Genes
25 %
Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes).

By CGC Genetics in Portugal.

SMAD4, ENG, ACVRL1, GDF2
Specificity
25 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

ENG
Specificity
100 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia.

By Impact Genetics Impact Genetics in Canada.

SMAD4, ENG, ACVRL1
Specificity
34 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SMAD4, ENG, ACVRL1
Specificity
34 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) / Osler-Weber-Rendu Disease via the ENG Gene.

By PreventionGenetics PreventionGenetics in United States.

ENG
Specificity
100 %
Genes
25 %
Hereditary Hemorrhagic telangiectasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
25 %
Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
25 %
Hereditary Hemorrhagic telangiectasia NGS panel.

By Connective Tissue Gene Tests in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
25 %
Pulmonary hypertension NGS panel.

By Connective Tissue Gene Tests in United States.

FOXF1, ENG, ACVRL1, BMPR1B, KCNK3, CAV1, SMAD9, BMPR2, EIF2AK4
Specificity
12 %
Genes
25 %
Vascular malformations Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
25 %
Pulmonary hypertension Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FOXF1, ENG, ACVRL1, BMPR1B, KCNK3, CAV1, SMAD9, BMPR2, EIF2AK4
Specificity
12 %
Genes
25 %
Pulmonary hypertension Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FOXF1, ENG, ACVRL1, BMPR1B, KCNK3, CAV1, SMAD9, BMPR2, EIF2AK4
Specificity
12 %
Genes
25 %
Vascular malformations NGS panel.

By Connective Tissue Gene Tests in United States.

PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
25 %
Vascular malformations Comprehensive panel.

By Connective Tissue Gene Tests in United States.

PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
25 %
ENG-Related Hereditary Hemorrhagic Telangiectasia.

By MGZ Medical Genetics Center in Germany.

ENG
Specificity
100 %
Genes
25 %
Pulmonary diseases - panels.

By MGZ Medical Genetics Center in Germany.

ELN, SARS2, CFTR, ENG, NOTCH3, CAV3, COL4A1, NOTCH1, ACVRL1, BMPR1B, CCNO, DNAAF4, KCNK3, CAV1, SMAD9, DNAAF3, DNAAF1, RSPH9, RSPH4A, DNAAF2 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
25 %
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
3 %
Genes
50 %
Hereditary hemorrhagic telangiectasia panel.

By Centogene AG - the Rare Disease Company in Germany.

SMAD4, ENG, RASA1, ACVRL1, GDF2, PTPN14, ADAM17
Specificity
15 %
Genes
25 %
Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 1.

By Centogene AG - the Rare Disease Company in Germany.

ENG
Specificity
100 %
Genes
25 %
Comprehensive pulmonary disease panel.

By Centogene AG - the Rare Disease Company in Germany.

FBLN5, RET, ELN, DTNBP1, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
25 %
Single gene testing ENG.

By CeGaT GmbH in Germany.

ENG
Specificity
100 %
Genes
25 %
Vascular and lymphatic disorders Panel.

By CeGaT GmbH in Germany.

GJC2, GATA2, ENG, KRIT1, CCM2, PDCD10, TREX1, FOXC2, FAT4, RASA1, SOX18, CCBE1, ACVRL1, GDF2, VEGFC, KIF11, FLT4, SERPING1
Specificity
6 %
Genes
25 %
Pulmonary Arterial Hypertension.

By Asper Biogene Asper Biogene LLC in Estonia.

ENG, ACVRL1, BMPR1B, KCNK3, CAV1, SMAD9, BMPR2
Specificity
15 %
Genes
25 %
Pulmonary arterial hypertension.

By Health in Code in Spain.

ENG, BMPR2
Specificity
50 %
Genes
25 %
Hereditary Haemorrhagic Telangiectasia Panel.

By Health in Code in Spain.

SMAD4, ENG, ACVRL1, GDF2, BMPR2, SMAD1
Specificity
17 %
Genes
25 %
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
50 %
Pulmonary Hypertension Panel.

By Health in Code in Spain.

SMAD4, ENG, NOTCH3, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, SMAD1
Specificity
9 %
Genes
25 %
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
50 %
Hereditary hemorrhagic telangiectasia Panel.

By Health in Code in Spain.

BMPR1A, SMAD4, ENG, RASA1, ACVRL1, GDF2, BMPR2, SMAD1, BMP10
Specificity
12 %
Genes
25 %
Pulmonary hypertension Panel.

By Health in Code in Spain.

FOXF1, SMAD4, ENG, NOTCH3, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4, SMAD1, TOPBP1
Specificity
7 %
Genes
25 %
ENG-Related Hereditary Hemorrhagic Telangiectasia.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

ENG
Specificity
100 %
Genes
25 %
Rendu-Osler-Weber disease (ACVRL1, ENG, SMAD4, GDF2).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

SMAD4, ENG, ACVRL1, GDF2
Specificity
25 %
Genes
25 %
Test for ENG-Related Hereditary Hemorrhagic Telangiectasia.

By Secugen SL in Spain.

ENG
Specificity
100 %
Genes
25 %
aCGH Deletion/Duplication Analysis.

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

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
25 %
Telangiectasia, hereditary hemorrhagic of Rendu, Osler and Weber.

By Praxis fuer Humangenetik Wien in Austria.

ENG
Specificity
100 %
Genes
25 %
Telangiectasia, hereditary hemorrhagic of Rendu, Osler and Weber.

By MedGene in Slovakia.

ENG
Specificity
100 %
Genes
25 %
Invitae Pulmonary Arterial Hypertension Panel.

By Invitae in United States.

ENG, ACVRL1, CAV1, BMPR2
Specificity
25 %
Genes
25 %
Invitae Hereditary Hemorrhagic Telangiectasia Panel.

By Invitae in United States.

SMAD4, ENG, RASA1, ACVRL1
Specificity
25 %
Genes
25 %
Hemorragic Telangiectasia type I, Hereditary: ENG gene sequence analysis.

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

ENG
Specificity
100 %
Genes
25 %
Hemorragic Telangiectasia, Hereditary: ENG and ACVRL1 (ALK1) genes deletions-duplications analysis (MLPA).

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

ENG, ACVRL1
Specificity
50 %
Genes
25 %
Telangiectasia hemorrágica hereditaria tipo I: Secuenciación gen ENG.

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

ENG
Specificity
100 %
Genes
25 %
COLON CANCER.

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

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, STK11, FLCN, BMPR1A, SMAD4, ENG, PMS1, MSH3
Specificity
7 %
Genes
25 %
Hereditary hemorrhagic telangiectasia.

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

SMAD4, ENG, ACVRL1, GDF2
Specificity
25 %
Genes
25 %
Pulmonary Arterial Hypertension: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2, CAV1, SMAD9, BMPR2
Specificity
13 %
Genes
25 %
Pulmonary Disease: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
25 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, SLC22A5, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 97 more genes
Specificity
2 %
Genes
50 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1 , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
50 %
Hereditary Hemorrhagic Telangiectasia: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMAD4, ENG, RASA1, ACVRL1, GDF2
Specificity
20 %
Genes
25 %
Lung Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, SCNN1A , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
25 %
Pulmonary Hypertension NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ENG, ACVRL1, CAV1, SMAD9, BMPR2
Specificity
20 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ATM, SMAD4, ENG, RASA1, ACVRL1
Specificity
20 %
Genes
25 %
ENG.

By Fulgent Genetics Fulgent Genetics in United States.

ENG
Specificity
100 %
Genes
25 %
Hereditary hemorrhagic telangiectasia (HHT).

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

SMAD4, ENG, KRIT1, CCM2, RASA1, ACVRL1, GDF2, CAV1, BMPR2
Specificity
12 %
Genes
25 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

ELN, PITX2, JAG1, BCOR, CHD7, DHCR7, HRAS, SOS2, CBL, NSD1, GPC3, ENG, NF1, FLNA, TBX1, ACTB, ACTG1, HOXA1, RBM10, NODAL , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
25 %
Pulmonary Artery Hypertension (PAH) Panel.

By Blueprint Genetics in Finland.

NFU1, FOXF1, SMAD4, ENG, RASA1, ACVRL1, KCNK3, CAV1, KCNA5, BMPR2, EIF2AK4, TBX4
Specificity
9 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia (HHT) Panel.

By Blueprint Genetics in Finland.

SMAD4, ENG, RASA1, ACVRL1
Specificity
25 %
Genes
25 %
Vascular Malformations Panel.

By Blueprint Genetics in Finland.

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GLMN, STAMBP, TEK, PIK3CA, ELMO2
Specificity
8 %
Genes
25 %
Rendu-Osler-Weber disease.

By Bioarray in Spain.

ENG
Specificity
100 %
Genes
25 %
Telangiectasia, hereditary hemorrhagic, type 1.

By Bioarray in Spain.

ENG
Specificity
100 %
Genes
25 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
25 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
25 %
HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

SMAD4, ENG, ACVRL1, GDF2
Specificity
25 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia Type 1 , Sequencing ENG Gene.

By Reference Laboratory Genetics in Spain.

ENG
Specificity
100 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia , Deletions-Duplications (MLPA) ENG Gene.

By Reference Laboratory Genetics in Spain.

ENG
Specificity
100 %
Genes
25 %
Hereditary Colon Cancer , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, STK11, FLCN, BMPR1A, SMAD4, ENG, MSH3
Specificity
8 %
Genes
25 %
Hereditary Hemorrhagic Telangiectasia , Sequencing (ENG, ACVRL1 and SMAD4) Genes.

By Reference Laboratory Genetics in Spain.

SMAD4, ENG, ACVRL1
Specificity
34 %
Genes
25 %
Heritable Pulmonary Arterial Hypertension, Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

ENG, ACVRL1, CAV1, SMAD9, BMPR2
Specificity
20 %
Genes
25 %
Osler hemorrhagic telangiectasia syndrome.

By Labor Dr. Wisplinghoff in Germany.

ENG
Specificity
100 %
Genes
25 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
25 %
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
25 %
COL3A1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COL3A1
Specificity
100 %
Genes
25 %
COL3A1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

COL3A1
Specificity
100 %
Genes
25 %
COL3A1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

COL3A1
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
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
25 %
Congenital Contractures Panel.

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

FKBP10, COL3A1, FBN1, PLOD3, SLC39A13, PLOD2, ALG2, CHAT, CHRNE, DOK7, NEB, RAPSN, DNM2, LMNA, UBA1, TPM3, ACTA1, CNTN1, TPM2, MYH2 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
25 %
Ehlers-Danlos Type IV.

By Center for Human Genetics, Inc in United States.

COL3A1
Specificity
100 %
Genes
25 %
Thoracic aortic aneurysms and aortic dissection - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

COL3A1, FBN1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
25 %
Thoracic aortic aneurysms and aortic dissection - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

COL3A1, FBN1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
25 %
Ehlers-Danlos syndrome type IV (EDS IV) genomic sequencing and deletion/duplication analysis.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL3A1
Specificity
100 %
Genes
25 %
Familial Aneurysm Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL3A1, FBN1, PLOD3, CBS, SMAD4, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3, TGFB3, PRKG1, MFAP5, MAT2A , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
25 %
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
25 %
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
25 %
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
25 %
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
25 %
Thoracic Aortic Aneurysm Panel.

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

COL3A1, FBN1, CBS, FLNA, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
8 %
Genes
25 %
COL3A1 Sequencing.

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

COL3A1
Specificity
100 %
Genes
25 %
COL3A1 Deletion/duplication analysis.

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

COL3A1
Specificity
100 %
Genes
25 %
COL3A1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

COL3A1
Specificity
100 %
Genes
25 %
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
25 %
Marfan/TAAD Sequencing Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
25 %
Marfan Syndrome/TAAD Del/Dup Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD3, TGFBR1, TGFBR2, FBN2, ACTA2, SLC2A10, MYH11
Specificity
9 %
Genes
25 %
Marfan/TAAD Sequencing & Del/Dup Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
25 %
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
25 %
Ehlers-Danlos Syndrome, vascular.

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

COL3A1
Specificity
100 %
Genes
25 %
COL3A1 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

COL3A1
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
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
25 %
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
25 %
COL3A1, COL5A1, COL5A2. NextGeneDx.Complete sequencing by NGS.

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

COL3A1, COL5A1, COL5A2
Specificity
34 %
Genes
25 %
COL3A1. Complete sequencing.

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

COL3A1
Specificity
100 %
Genes
25 %
COL3A1. NextGeneDx.Complete sequencing by NGS.

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

COL3A1
Specificity
100 %
Genes
25 %
COL3A1. NextGeneDx.Complete sequencing by NGS.

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

COL3A1
Specificity
100 %
Genes
25 %
COL3A1. Complete sequencing.

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

COL3A1
Specificity
100 %
Genes
25 %
Pneumothorax Seq Analysis.

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

COL3A1, FBN1, FLCN, TGFBR1, TGFBR2
Specificity
20 %
Genes
25 %
Pneumothorax Del/ Dup Panel.

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

COL3A1, FBN1, FLCN, TGFBR1, TGFBR2
Specificity
20 %
Genes
25 %
Pneumothorax Seq + Del/Dup Panel.

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

COL3A1, FBN1, FLCN, TGFBR1, TGFBR2
Specificity
20 %
Genes
25 %
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
25 %
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
25 %
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
25 %
Ehlers-Danlos Syndrome type IV (sequence analysis of COL3A1 gene).

By CGC Genetics in Portugal.

COL3A1
Specificity
100 %
Genes
25 %
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
25 %
Ehlers-Danlos syndrome type IV (deletion/duplication analysis of COL3A1 gene).

By CGC Genetics in Portugal.

COL3A1
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
25 %
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
25 %
Ehlers-Danlos Syndrome, Type IV via the COL3A1 Gene.

By PreventionGenetics PreventionGenetics in United States.

COL3A1
Specificity
100 %
Genes
25 %
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COL3A1, FBN1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11, FOXE3, TGFB3, PRKG1, MFAP5, MAT2A, LOX
Specificity
6 %
Genes
25 %
Ehlers-Danlos syndrome core NGS panel.

By Connective Tissue Gene Tests in United States.

COL3A1, COL5A1, COL5A2
Specificity
34 %
Genes
25 %
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
25 %
Ehlers-Danlos syndrome core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL3A1, COL5A1, COL5A2
Specificity
34 %
Genes
25 %
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
25 %
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
25 %
Ehlers-Danlos syndrome core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL3A1, COL5A1, COL5A2
Specificity
34 %
Genes
25 %
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
25 %
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
25 %
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
25 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
25 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
25 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
25 %
Ehlers-Danlos syndrome, type IV.

By Connective Tissue Gene Tests in United States.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome, type IV Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome, type IV Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome, type IV Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome, type IV Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome, type IV NGS Test.

By Connective Tissue Gene Tests in United States.

COL3A1
Specificity
100 %
Genes
25 %
Thoracic aortic diseases.

By Institute of Human Genetics Cologne University in Germany.

COL3A1, FBN1, CBS, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11
Specificity
10 %
Genes
25 %
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
25 %
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
25 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 147 more genes
Specificity
1 %
Genes
25 %
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD).

By MGZ Medical Genetics Center in Germany.

COL3A1, FBN1, CBS, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, SLC2A10, MYH11, EFEMP2, PRKG1
Specificity
7 %
Genes
25 %
Teenager Stroke / Stroke-Like Episodes.

By MGZ Medical Genetics Center in Germany.

TTR, COL3A1, AMACR, POLG, FBN1, OTC, CBS, GLA, NOTCH3, COL4A1, FLNA, TREX1, HTRA1, CACNA1C, TGFB2, TGFBR1, TGFBR2, SLC2A10, ABCC6, ADA2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
25 %
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
25 %
Cardiovascular disorders panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TGFB3, SLC8A1
Specificity
6 %
Genes
25 %
Ehlers-Danlos syndrome type III.

By Centogene AG - the Rare Disease Company in Germany.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome type IV.

By Centogene AG - the Rare Disease Company in Germany.

COL3A1
Specificity
100 %
Genes
25 %
Marfan, Loeys-Dietz syndrome and related disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

COL3A1, FBN1, COL5A1, COL5A2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10, EFEMP2, TGFB3, SMAD2
Specificity
7 %
Genes
25 %
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
25 %
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
25 %
Thoracic Aortic Aneurysms and Aortic Dissections.

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

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11
Specificity
12 %
Genes
25 %
Ehlers-Danlos Syndrome.

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

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1
Specificity
17 %
Genes
25 %
Ehlers-Danlos syndrome, COL3A1.

By GGA - Galil Genetic Analysis in Israel.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos Syndrome, Type IV (Vascular Type, COL3A1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

COL3A1
Specificity
100 %
Genes
25 %
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes.

By Asper Biogene Asper Biogene LLC in Estonia.

COL3A1, FBN1, COL5A1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
25 %
HAD panel 1.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, ACTA2, MYH11, TGFB3
Specificity
10 %
Genes
25 %
COL3A1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL3A1
Specificity
100 %
Genes
25 %
COL3A1 screening.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome type IV, COL3A1 sequencing.

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

COL3A1
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
Ehlers-Danlos syndrome IV.

By Praxis fuer Humangenetik Wien in Austria.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome III.

By Praxis fuer Humangenetik Wien in Austria.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome III.

By MedGene in Slovakia.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome IV.

By MedGene in Slovakia.

COL3A1
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
Ehlers-Danlos syndrome type IV: COL3A1 gene deletions-duplications analysis (MLPA).

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

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome type IV: COL3A1 gene sequence analysis.

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

COL3A1
Specificity
100 %
Genes
25 %
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
25 %
Marfan syndrome and related disorders.

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

COL3A1, FBN1, COL5A1, COL5A2, TGFB2, SMAD3, TGFBR1, TGFBR2, FBN2, ACTA2, MYH11
Specificity
10 %
Genes
25 %
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
25 %
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
25 %
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
25 %
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
25 %
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
25 %
COL3A1 - Gene Sequencing & Del/Dup analysis.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1
Specificity
100 %
Genes
25 %
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
25 %
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
25 %
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
25 %
Familial Aortopathy Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

COL3A1, FBN1, TGFBR1, TGFBR2, ACTA2, MYH11
Specificity
17 %
Genes
25 %
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
6 %
Genes
25 %
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
25 %
Ehlers-Danlos Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

By Fulgent Genetics Fulgent Genetics in United States.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos.

By PentaCoreLab in Hungary.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, ADAMTS2, TNXB
Specificity
13 %
Genes
25 %
Progeria and Progeroid Syndromes Panel.

By Blueprint Genetics in Finland.

RECQL4, B4GALT7, COL3A1, PYCR1, ALDH18A1, BLM, LMNA, BSCL2, ERCC2, ZMPSTE24, ERCC6, GORAB, ERCC4, ERCC8, AGPAT2, WRN, ERCC5
Specificity
6 %
Genes
25 %
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
25 %
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
25 %
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
25 %
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
25 %
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
25 %
Ehlers-Danlos syndrome, type III.

By Bioarray in Spain.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome, type III.

By Bioarray in Spain.

COL3A1
Specificity
100 %
Genes
25 %
Ehlers-Danlos syndrome type IV (vascular).

By Bioarray in Spain.

COL3A1
Specificity
100 %
Genes
25 %
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
25 %
iGene Cardiac Panel.

By ApolloGen, Inc. in United States.

COL3A1, DSP, GLA, LDLR, LMNA, TTN, MYH7, MYBPC3, KCNH2, SCN5A, KCNQ1, PKP2, RYR2, ACTC1, TNNI3, PRKAG2, DSG2, TPM1, TNNT2, MYL3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
Ehlers-Danlos Syndrome, Type IV Panel by NGS.

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

COL3A1
Specificity
100 %
Genes
25 %
COL3A1 Gene, entire coding region or targeted variant.

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

COL3A1
Specificity
100 %
Genes
25 %
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

COL3A1, FBN1, COL5A1, COL5A2, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TGFB3, PRKG1, MFAP5
Specificity
7 %
Genes
25 %
EHLERS-DANLOS SYNDROME, VASCULAR, TYPE 4.

By Laboratorio de Genetica Clinica SL in Spain.

COL3A1
Specificity
100 %
Genes
25 %
EHLERS-DANLOS SYNDROME: NGS PANEL-1.

By Laboratorio de Genetica Clinica SL in Spain.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, TNXB
Specificity
15 %
Genes
25 %
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
25 %
Aortic aneurysm, hereditary thoracic panel.

By LifeLabs Genetics in Canada.

COL3A1, FBN1, CBS, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
9 %
Genes
25 %
Ehlers-Danlos syndrome and related disorders panel.

By LifeLabs Genetics in Canada.

COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, FKBP14
Specificity
15 %
Genes
25 %
Ehlers-Danlos Syndrome Type IV , Deletions-Duplications (MLPA) COL3A1 Gene.

By Reference Laboratory Genetics in Spain.

COL3A1
Specificity
100 %
Genes
25 %
Marfan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

COL3A1, FBN1, COL5A1, SMAD3, TGFBR1, TGFBR2, FBN2, ACTA2, MYH11
Specificity
12 %
Genes
25 %
Ehlers-Danlos Syndrome Type IV, Sequencing COL3A1 Gene.

By Reference Laboratory Genetics in Spain.

COL3A1
Specificity
100 %
Genes
25 %
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
25 %
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
25 %
Ehlers-Danlos syndrome, type 4.

By Labor Dr. Wisplinghoff in Germany.

COL3A1
Specificity
100 %
Genes
25 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
25 %
Vascular Ehlers-Danlos Syndrome: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

COL3A1
Specificity
100 %
Genes
25 %
Vascular Ehlers-Danlos Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

COL3A1
Specificity
100 %
Genes
25 %
Heritable Thoracic Aortic Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11, TGFB3, PRKG1, MFAP5, MAT2A
Specificity
8 %
Genes
25 %

Alternate names

Aneurysm, Intracranial Berry, 1; Anib1 Is also known as aneurysmal subarachnoid hemorrhage, familial;familial berry aneurysm; familial intracranial saccular aneurysm.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB DYSTONIA 11, MYOCLONIC; DYT11 CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

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