ACVRL1 gene related symptoms and diseases
All the information presented here about the ACVRL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACVRL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Common - Between 50% and 80% cases |
| Epistaxis | Common - Between 50% and 80% cases |
| Subarachnoid hemorrhage | Common - Between 50% and 80% cases |
| Cerebral hemorrhage | Common - Between 50% and 80% cases |
| Conjunctival telangiectasia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ACVRL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Pulmonary arterial hypertension
- Transient ischemic attack
- Gastrointestinal hemorrhage
- Migraine
- Cirrhosis
Not very common - Between 30% and 50% cases
- Clubbing
- Gastrointestinal angiodysplasia
- Hematochezia
And 49 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACVRL1 gene
Here you will find a list of rare diseases related to the ACVRL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY HEMORRHAGIC TELANGIECTASIA
Alternate names
HEREDITARY HEMORRHAGIC TELANGIECTASIA Is also known as hht, rendu-osler disease, rendu-osler-weber disease
Description
Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.
Most common symptoms of HEREDITARY HEMORRHAGIC TELANGIECTASIA
- Seizures
- Congestive heart failure
- Cirrhosis
- Hepatic failure
- Hematuria
More info about HEREDITARY HEMORRHAGIC TELANGIECTASIA
SOURCES: ORPHANET
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
Most common symptoms of TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
- Seizures
- Anemia
- Hypertension
- Dyspnea
- Cirrhosis
More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
SOURCES: OMIM
HERITABLE PULMONARY ARTERIAL HYPERTENSION
Alternate names
HERITABLE PULMONARY ARTERIAL HYPERTENSION Is also known as hpah, hereditary pulmonary arterial hypertension, familial pulmonary arterial hypertension, fpah
Description
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
More info about HERITABLE PULMONARY ARTERIAL HYPERTENSION
SOURCES: ORPHANET
Search interest in ACVRL1
Potential gene panels for ACVRL1 gene
Comprehensive Pulmonary Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panel United States.
Arterial Hypertension Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Arterial Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ABCA3 ENG GDF2 KCNA5 KCNK3 SMAD4
More info about this panel United States.
NGS Vascular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Vascular Disorders Panel that also includes the following genes: SOX18 TEK VEGFC GLMN KRIT1 STAMBP GJC2 ACVRL1 CCM2 CCBE1
More info about this panel United States.
Hereditary hemorrhagic telangiectasia - ACVRL1/ALK1 Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the ACVRL1 gene.
More info about this panel United States.
Test for ACVRL1-Related Hereditary Hemorrhagic Telangiectasia Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the ACVRL1 gene.
More info about this panel Netherlands.
Hereditary Hemorrhagic Telangiectasia Panel
United States.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Hereditary Hemorrhagic Telangiectasia that also includes the following genes: ACVRL1 ENG SMAD4
More info about this panel United States.
Pulmonary Arterial Hypertension Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pulmonary Arterial Hypertension Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ABCA3 ENG GDF2 KCNA5 KCNK3 SMAD4 SMAD9
More info about this panel United States.
Hereditary Hemorrhagic Telangiectasia Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Hemorrhagic Telangiectasia Deletion/Duplication Panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1
More info about this panel United States.
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1
More info about this panel United States.
PulmoGene Panel (64 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panel United States.
Pulmonary Hypertension Panel (5 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pulmonary Hypertension Panel (5 Genes) that also includes the following genes: BMPR2 ACVRL1 ENG FOXF1 SMAD9
More info about this panel United States.
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication that also includes the following genes: ACVRL1 ENG SMAD4
More info about this panel United States.
Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1
More info about this panel United States.
Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG KCNK3
More info about this panel United States.
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication that also includes the following genes: ACVRL1 ENG
More info about this panel United States.
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing that also includes the following genes: ACVRL1 ENG
More info about this panel United States.
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication that also includes the following genes: ACVRL1 ENG
More info about this panel United States.
Vascular Malformations Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Vascular Malformations Panel, Sequencing and Deletion/Duplication that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 KCNK3
More info about this panel United States.
HHTNext Panel
United States.
By Ambry Genetics HHTNext that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1
More info about this panel United States.
Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Vascular Malformations NGS Multi-Gene Panel (21 Genes) that also includes the following genes: BMPR2 SOX18 TEK GLMN CAV1 KRIT1 ACVRL1 DOCK6 ANTXR1 CCM2
More info about this panel Netherlands.
ACVRL1, ENG, BMPR2. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica ACVRL1, ENG, BMPR2. MLPA testing that also includes the following genes: BMPR2 ACVRL1 ENG
More info about this panel Spain.
ACVRL1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ACVRL1 gene.
More info about this panel Spain.
ACVRL1, ENG, SMAD4. NextGeneDx. Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica ACVRL1, ENG, SMAD4. NextGeneDx. Complete sequencing by NGS that also includes the following genes: ACVRL1 ENG SMAD4
More info about this panel Spain.
Pulmonary Hypertension Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq + Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3
More info about this panel United States.
Pulmonary Hypertension Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq Analysis that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3
More info about this panel United States.
Pulmonary Hypertension Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Comprehensive Pulmonary-Vascular Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Telangiectasia hereditary hemorrhagic type 2 (HHT2, sequence analysis of ACVRL1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACVRL1 gene.
More info about this panel Portugal.
Rendu-Osler-Weber disease (deletion/duplication analysis of ENG and ACVRL1 genes) Panel
Portugal.
By CGC Genetics Rendu-Osler-Weber disease (deletion/duplication analysis of ENG and ACVRL1 genes) that also includes the following genes: ACVRL1 ENG
More info about this panel Portugal.
Rendu-Osler-Weber disease (sequence analysis of ACVRL1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACVRL1 gene.
More info about this panel Portugal.
Pulmonary hypertension, primary (NGS panel for 9 genes) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACVRL1 gene.
More info about this panel Portugal.
Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes) Panel
Portugal.
By CGC Genetics Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes) that also includes the following genes: ACVRL1 ENG GDF2 SMAD4
More info about this panel Portugal.
Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes) Panel
Portugal.
By CGC Genetics Hereditary hemorrhagic telangiectasia (NGS panel for 4 genes) that also includes the following genes: ACVRL1 ENG GDF2 SMAD4
More info about this panel Portugal.
Pulmonary hypertension, primary (NGS panel for 9 genes) Panel
Portugal.
By CGC Genetics
This panel specifically test the ACVRL1 gene.
More info about this panel Portugal.
Hereditary Hemorrhagic Telangiectasia Panel
United States.
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the ACVRL1 gene.
More info about this panel United States.
Hereditary Hemorrhagic Telangiectasia Panel
Canada.
By Impact Genetics Impact Genetics Hereditary Hemorrhagic Telangiectasia that also includes the following genes: ACVRL1 ENG SMAD4
More info about this panel Canada.
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel with CNV Detection that also includes the following genes: ACVRL1 ENG SMAD4
More info about this panel United States.
Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2) via ACVRL1/ALK1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ACVRL1 gene.
More info about this panel United States.
ACVRL1 Panel
Slovakia.
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the ACVRL1 gene.
More info about this panel Slovakia.
Hereditary Hemorrhagic telangiectasia Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Hereditary Hemorrhagic telangiectasia Comprehensive panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1
More info about this panel United States.
Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1
More info about this panel United States.
Hereditary Hemorrhagic telangiectasia NGS panel Panel
United States.
By Connective Tissue Gene Tests Hereditary Hemorrhagic telangiectasia NGS panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1
More info about this panel United States.
Pulmonary hypertension NGS panel Panel
United States.
By Connective Tissue Gene Tests Pulmonary hypertension NGS panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panel United States.
Vascular malformations Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Vascular malformations Deletion / Duplication panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panel United States.
Pulmonary hypertension Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Pulmonary hypertension Deletion / Duplication panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panel United States.
Pulmonary hypertension Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Pulmonary hypertension Comprehensive panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panel United States.
Vascular malformations NGS panel Panel
United States.
By Connective Tissue Gene Tests Vascular malformations NGS panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panel United States.
Vascular malformations Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Vascular malformations Comprehensive panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panel United States.
ACVRL1-Related Hereditary Hemorrhagic Telangiectasia Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the ACVRL1 gene.
More info about this panel Germany.
Pulmonary diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2
More info about this panel Germany.
Vascular and connective tissue diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Hereditary hemorrhagic telangiectasia panel Panel
Germany.
By Centogene AG - the Rare Disease Company Hereditary hemorrhagic telangiectasia panel that also includes the following genes: ACVRL1 ADAM17 ENG GDF2 SMAD4 PTPN14 RASA1
More info about this panel Germany.
Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ACVRL1 gene.
More info about this panel Germany.
Comprehensive pulmonary disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
More info about this panel Germany.
Single gene testing ACVRL1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ACVRL1 gene.
More info about this panel Germany.
Vascular and lymphatic disorders Panel Panel
Germany.
By CeGaT GmbH Vascular and lymphatic disorders Panel that also includes the following genes: SOX18 TREX1 SERPING1 VEGFC KRIT1 GJC2 ACVRL1 CCM2 FAT4 CCBE1
More info about this panel Germany.
ACVRL1-Related Hereditary Hemorrhagic Telangiectasia Panel
Spain.
By Innovagenomics Innovagenomics S.L
This panel specifically test the ACVRL1 gene.
More info about this panel Spain.
ACVRL1-Telangiectasia, hereditary hemorrhagic Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the ACVRL1 gene.
More info about this panel Israel.
Pulmonary Arterial Hypertension Panel
Estonia.
By Asper Biogene Asper Biogene LLC Pulmonary Arterial Hypertension that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ENG KCNK3 SMAD9
More info about this panel Estonia.
Hereditary Haemorrhagic Telangiectasia Panel Panel
Spain.
By Health in Code Hereditary Haemorrhagic Telangiectasia Panel that also includes the following genes: BMPR2 ACVRL1 ENG GDF2 SMAD1 SMAD4
More info about this panel Spain.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Pulmonary Hypertension Panel Panel
Spain.
By Health in Code Pulmonary Hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 ENG GDF2 KCNA5 KCNK3 SMAD1 SMAD4
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Hereditary hemorrhagic telangiectasia Panel Panel
Spain.
By Health in Code Hereditary hemorrhagic telangiectasia Panel that also includes the following genes: BMPR1A BMPR2 ACVRL1 BMP10 ENG GDF2 SMAD1 SMAD4 RASA1
More info about this panel Spain.
Pulmonary hypertension Panel Panel
Spain.
By Health in Code Pulmonary hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 TOPBP1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5
More info about this panel Spain.
Rendu-Osler-Weber disease (ACVRL1, ENG, SMAD4, GDF2) Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc Rendu-Osler-Weber disease (ACVRL1, ENG, SMAD4, GDF2) that also includes the following genes: ACVRL1 ENG GDF2 SMAD4
More info about this panel Belgium.
ACVRL1-Related Hereditary Hemorrhagic Telangiectasia Panel
Spain.
By Secugen SL
This panel specifically test the ACVRL1 gene.
More info about this panel Spain.
aCGH Deletion/Duplication Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB
More info about this panel United States.
Telangiectasia, hereditary hemorrhagic, type 2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ACVRL1 gene.
More info about this panel Austria.
Telangiectasia, hereditary hemorrhagic, type 2 Panel
Slovakia.
By MedGene
This panel specifically test the ACVRL1 gene.
More info about this panel Slovakia.
Invitae Pulmonary Arterial Hypertension Panel Panel
United States.
By Invitae Invitae Pulmonary Arterial Hypertension Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG
More info about this panel United States.
Invitae Hereditary Hemorrhagic Telangiectasia Panel Panel
United States.
By Invitae Invitae Hereditary Hemorrhagic Telangiectasia Panel that also includes the following genes: ACVRL1 ENG SMAD4 RASA1
More info about this panel United States.
Hemorragic Telangiectasia type II, Hereditary: ACVRL1 (ALK1) gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ACVRL1 gene.
More info about this panel Spain.
Hemorragic Telangiectasia, Hereditary: ENG and ACVRL1 (ALK1) genes deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hemorragic Telangiectasia, Hereditary: ENG and ACVRL1 (ALK1) genes deletions-duplications analysis (MLPA) that also includes the following genes: ACVRL1 ENG
More info about this panel Spain.
Hereditary hemorrhagic telangiectasia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hereditary hemorrhagic telangiectasia that also includes the following genes: ACVRL1 ENG GDF2 SMAD4
More info about this panel Spain.
Heritable pulmonary arterial hypertension Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Heritable pulmonary arterial hypertension that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 KCNK3 SMAD9
More info about this panel Spain.
Pulmonary Arterial Hypertension: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Arterial Hypertension: Sequencing Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG GDF2 SMAD4 SMAD9 RASA1
More info about this panel United States.
Pulmonary Disease: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT
More info about this panel United States.
Hereditary Hemorrhagic Telangiectasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Hemorrhagic Telangiectasia: Sequencing Panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1
More info about this panel United States.
Comprehensive Cardiovascular: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF
More info about this panel United States.
Comprehensive Cardiovascular: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI BRAF SNTA1
More info about this panel United States.
Hereditary Hemorrhagic Telangiectasia: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Hemorrhagic Telangiectasia: Deletion/Duplication Panel that also includes the following genes: ACVRL1 ENG GDF2 SMAD4 RASA1
More info about this panel United States.
Lung Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC
More info about this panel United States.
Pulmonary Hypertension NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Pulmonary Hypertension NGS Panel that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG SMAD9
More info about this panel United States.
Hereditary Hemorrhagic Telangiectasia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hereditary Hemorrhagic Telangiectasia NGS Panel that also includes the following genes: ACVRL1 ENG SMAD4 ATM RASA1
More info about this panel United States.
ACVRL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACVRL1 gene.
More info about this panel United States.
Hereditary hemorrhagic telangiectasia (HHT) Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hereditary hemorrhagic telangiectasia (HHT) that also includes the following genes: BMPR2 CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 SMAD4 RASA1
More info about this panel United States.
Pulmonary Artery Hypertension (PAH) Panel Panel
Finland.
By Blueprint Genetics Pulmonary Artery Hypertension (PAH) Panel that also includes the following genes: BMPR2 TBX4 CAV1 NFU1 ACVRL1 EIF2AK4 ENG FOXF1 KCNA5 KCNK3
More info about this panel Finland.
Hereditary Hemorrhagic Telangiectasia (HHT) Panel Panel
Finland.
By Blueprint Genetics Hereditary Hemorrhagic Telangiectasia (HHT) Panel that also includes the following genes: ACVRL1 ENG SMAD4 RASA1
More info about this panel Finland.
Vascular Malformations Panel Panel
Finland.
By Blueprint Genetics Vascular Malformations Panel that also includes the following genes: SOX18 TEK GLMN KRIT1 STAMBP ELMO2 ACVRL1 CCM2 ENG SMAD4
More info about this panel Finland.
Telangiectasia, hereditary hemorrhagic, type 1 Panel
Spain.
By Bioarray
This panel specifically test the ACVRL1 gene.
More info about this panel Spain.
Hereditary hemorrhagic telangiectasia type 2 Panel
Spain.
By Bioarray
This panel specifically test the ACVRL1 gene.
More info about this panel Spain.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
Pulmonary Hypertension Panel
Italy.
By Cardiovascular Genetics PO San Francesco-NUORO (IT) Pulmonary Hypertension that also includes the following genes: BMPR2 ACVRL1
More info about this panel Italy.
OmniSeq Comprehensive Panel
United States.
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panel United States.
HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME) Panel
Spain.
By Laboratorio de Genetica Clinica SL HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME) that also includes the following genes: ACVRL1 ENG GDF2 SMAD4
More info about this panel Spain.
PULMONARY HYPERTENSION, NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL PULMONARY HYPERTENSION, NGS PANEL that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5
More info about this panel Spain.
HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME) SANGER PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER-WEBER SYNDROME) SANGER PANEL that also includes the following genes: ACVRL1 ENG GDF2 SMAD4
More info about this panel Spain.
Hereditary Hemorrhagic Telangiectasia Type 2 , Sequencing ACVRL1 (HHT2) Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ACVRL1 gene.
More info about this panel Spain.
Hereditary Hemorrhagic Telangiectasia , Deletions-Duplications (MLPA) ACVRL1) Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ACVRL1 gene.
More info about this panel Spain.
Hereditary Hemorrhagic Telangiectasia , Sequencing (ENG, ACVRL1 and SMAD4) Genes Panel
Spain.
By Reference Laboratory Genetics Hereditary Hemorrhagic Telangiectasia , Sequencing (ENG, ACVRL1 and SMAD4) Genes that also includes the following genes: ACVRL1 ENG SMAD4
More info about this panel Spain.
Heritable Pulmonary Arterial Hypertension, Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Heritable Pulmonary Arterial Hypertension, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: BMPR2 CAV1 ACVRL1 ENG SMAD9
More info about this panel Spain.
Hereditary hemorrhagic telangiectasia type 2 Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the ACVRL1 gene.
More info about this panel Germany.
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