ELN gene related symptoms and diseases

All the information presented here about the ELN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ELN gene

Symptoms // Phenotype % Cases
Pulmonic stenosis Common - Between 50% and 80% cases
Pulmonary artery stenosis Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Prematurely aged appearance Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ELN gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Aortic root aneurysm
  • Aortic dissection
  • Right ventricular hypertrophy
  • Hypertelorism
  • Cardiomegaly
  • Intellectual disability
  • Abnormality of the cardiovascular system
  • Scoliosis

And 360 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

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Rare diseases associated to ELN gene

Here you will find a list of rare diseases related to the ELN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT CUTIS LAXA


Alternate names

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Description

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

Most common symptoms of AUTOSOMAL DOMINANT CUTIS LAXA

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


More info about AUTOSOMAL DOMINANT CUTIS LAXA

SOURCES: OMIM ORPHANET

WILLIAMS SYNDROME


Alternate names

WILLIAMS SYNDROME Is also known as deletion 7q11.23, williams syndrome, williams-beuren syndrome, chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb, wms, monosomy 7q11.23, ws

Description

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

Most common symptoms of WILLIAMS SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about WILLIAMS SYNDROME

SOURCES: OMIM ORPHANET MESH

SUPRAVALVULAR AORTIC STENOSIS


Alternate names

SUPRAVALVULAR AORTIC STENOSIS Is also known as supravalvar aortic stenosis, eisenberg type, svas

Description

SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.

Most common symptoms of SUPRAVALVULAR AORTIC STENOSIS

  • Intellectual disability
  • Abnormal facial shape
  • Edema
  • Arrhythmia
  • Pulmonic stenosis


More info about SUPRAVALVULAR AORTIC STENOSIS

SOURCES: ORPHANET OMIM

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION


Alternate names

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Description

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

Most common symptoms of FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

  • Scoliosis
  • Hypertelorism
  • Hypertension
  • Dilatation
  • Patent ductus arteriosus


More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

SOURCES: ORPHANET


Potential gene panels for ELN gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

NGS Aortic Dysfunction or Dilation and Related Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Aortic Dysfunction or Dilation and Related Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1 COL5A2

More info about this panel

NGS Connective Tissue Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2

More info about this panel

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

ELN Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ELN gene.

More info about this panel

Cystic Lung Disease Panel (8 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Cystic Lung Disease Panel (8 Genes) that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

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

ELN Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the ELN gene.

More info about this panel

Connective Tissue Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S

More info about this panel

Cutis Laxa Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Cutis Laxa Panel that also includes the following genes: ATP6V0A2 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 PTDSS1 PYCR1 ALDH18A1

More info about this panel

ELN. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ELN gene.

More info about this panel

TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TGFBR1 TGFBR2 TGFBR3 ACTA2 ELN FBN1 FBN2

More info about this panel

ELN. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ELN gene.

More info about this panel

Williams syndrome Panel

Portugal.

By CGC Genetics

This panel specifically test the ELN gene.

More info about this panel

Supravalvar aortic stenosis (sequence analysis of ELN gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ELN gene.

More info about this panel

Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection that also includes the following genes: SKI SMS TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS

More info about this panel

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6

More info about this panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF

More info about this panel

Supravalvular Aortic Stenosis (SVAS) and Cutis Laxa via ELN Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ELN gene.

More info about this panel

Cutis laxa Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cutis laxa Deletion / Duplication panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1

More info about this panel

Congenital heart disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Congenital heart disease Deletion / Duplication panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6

More info about this panel

Congenital heart disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Congenital heart disease Comprehensive panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6

More info about this panel

Cutis laxa NGS panel Panel

United States.

By Connective Tissue Gene Tests Cutis laxa NGS panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1

More info about this panel

Cutis laxa Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cutis laxa Comprehensive panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1

More info about this panel

Congenital heart disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Congenital heart disease NGS panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6

More info about this panel

Supravalvular aortic stenosis Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ELN gene.

More info about this panel

Supravalvular aortic stenosis Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ELN gene.

More info about this panel

Cutis laxa, autosomal dominant 1 Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ELN gene.

More info about this panel

Cutis laxa, autosomal dominant 1 NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ELN gene.

More info about this panel

Supravalvular aortic stenosis NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ELN gene.

More info about this panel

Cutis laxa, autosomal dominant 1 Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ELN gene.

More info about this panel

Marfan syndrome, EDS and other connective tissue disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Marfan syndrome, EDS and other connective tissue disorders - different panels that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS GATA5

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

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

Cardiovascular disorders panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiovascular disorders panel that also includes the following genes: SLC8A1 TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1

More info about this panel

Congenital heart defects panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Congenital heart defects panel that also includes the following genes: BRAF SOS1 TAZ TBX20 TBX5 ZIC3 ACTC1 CRELD1 CBL SHOC2

More info about this panel

Cutis laxa panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cutis laxa panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1

More info about this panel

Supravalvar aortic stenosis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ELN gene.

More info about this panel

Cutis laxa, autosomal dominant Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ELN gene.

More info about this panel

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

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Germany.

By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2

More info about this panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Germany.

By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2

More info about this panel

Congenital Heart Defects Panel Panel

Germany.

By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1

More info about this panel

Ehlers-Danlos Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2

More info about this panel

ELN mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the ELN gene.

More info about this panel

HAD panel 2 Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital HAD panel 2 that also includes the following genes: ADAMTS10 SLC2A10 EFEMP2 ELN FBN2 FLNA MYLK NOTCH1 PRKG1

More info about this panel

Cutis laxa gene panel Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital Cutis laxa gene panel that also includes the following genes: TALDO1 ATP6V0A2 COG7 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1

More info about this panel

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

Aortic Valvular Diseases Panel Panel

Spain.

By Health in Code Aortic Valvular Diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ADAMTSL4 COL1A2

More info about this panel

Cardiomyopathies Panel Panel

Spain.

By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1

More info about this panel

Congenital Heart Diseases Panel Panel

Spain.

By Health in Code Congenital Heart Diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TNNI3 TTN ACTA2 ACTC1 CRELD1

More info about this panel

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

Congenital heart diseases Panel Panel

Spain.

By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2

More info about this panel

Aortic diseases Panel Panel

Spain.

By Health in Code Aortic diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS GATA5

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

Invitae Congenital Heart Defects and Heterotaxy Panel Panel

United States.

By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298

More info about this panel

Invitae Congenital Heart Disease Panel Panel

United States.

By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL

More info about this panel

Williams disease: 7q11.23 region Deletions-Duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Williams disease: 7q11.23 region Deletions-Duplications analysis (MLPA) that also includes the following genes: ELN LIMK1

More info about this panel

Elastin: ELN gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ELN gene.

More info about this panel

Elastin: ELN gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ELN gene.

More info about this panel

NGS panel - Cutis laxa Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Cutis laxa that also includes the following genes: RIN2 EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1

More info about this panel

NGS panel - Aortic or arterial dilatation / dissection Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Aortic or arterial dilatation / dissection that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 EFEMP2

More info about this panel

NGS panel- Aortic or arterial dilatation/dissection Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 EFEMP2

More info about this panel

ELN - Gene Sequencing & Del/Dup analysis Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the ELN gene.

More info about this panel

NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 COL5A1

More info about this panel

NGS panel- Aortic or arterial dilatation/dissection + COL5A1 Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection + COL5A1 that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 COL5A1

More info about this panel

Connective Tissue Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Sequencing Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2

More info about this panel

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

Cystic Lung Disease: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cystic Lung Disease: Sequencing Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

ELN-related Disorders: ELN Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ELN gene.

More info about this panel

Connective Tissue Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Deletion/Duplication Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2

More info about this panel

Cystic Lung Disease: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cystic Lung Disease: Deletion/Duplication Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

ELN-related Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ELN gene.

More info about this panel

Connective Tissue NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Connective Tissue NGS Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2

More info about this panel

Cystic Lung Disease NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Cystic Lung Disease NGS Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

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

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

ELN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ELN gene.

More info about this panel

Cutis Laxa Panel Panel

Finland.

By Blueprint Genetics Cutis Laxa Panel that also includes the following genes: SLC2A10 ATP6V0A2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1

More info about this panel

Cystic Lung Disease Panel Panel

Finland.

By Blueprint Genetics Cystic Lung Disease Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

Congenital Structural Heart Disease Panel Panel

Finland.

By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB

More info about this panel

Aorta Panel Panel

Finland.

By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS

More info about this panel

Ehlers-Danlos Syndrome Panel Panel

Finland.

By Blueprint Genetics Ehlers-Danlos Syndrome Panel that also includes the following genes: BGN TGFB2 TGFBR1 TGFBR2 CBS ATP6V0A2 FKBP14 SLC39A13 DSE ADAMTS2

More info about this panel

Comprehensive Pulmonology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7

More info about this panel

Supravalvar aortic stenosis Panel

Spain.

By Bioarray

This panel specifically test the ELN gene.

More info about this panel

Autosomal dominant cutis laxa Panel

Spain.

By Bioarray

This panel specifically test the ELN gene.

More info about this panel

Williams syndrome Panel

Spain.

By Bioarray

This panel specifically test the ELN gene.

More info about this panel

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

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

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

Collagenopathies Panel

Italy.

By Cardiovascular Genetics PO San Francesco-NUORO (IT) Collagenopathies that also includes the following genes: TGFB1 TGFBR1 TGFBR2 COL5A1 ELN FBN1 SMAD3

More info about this panel

CUTIS LAXA (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL CUTIS LAXA (AUTOSOMAL DOMINANT) that also includes the following genes: ELN FBLN5

More info about this panel

WILLIAMS-BEUREN SYNDROME (SUPRAVALVULAR AORTIC STENOSIS) Panel

Spain.

By Laboratorio de Genetica Clinica SL WILLIAMS-BEUREN SYNDROME (SUPRAVALVULAR AORTIC STENOSIS) that also includes the following genes: ELN LIMK1

More info about this panel

CONGENITAL HEART DEFECTS: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HEART DEFECTS: NGS PANEL that also includes the following genes: TBX1 TBX20 TBX5 ZIC3 ACTC1 CRELD1 ZFPM2 TAB2 CFC1 CITED2

More info about this panel

CUTIS LAXA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CUTIS LAXA: NGS PANEL that also includes the following genes: ATP6V0A2 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1

More info about this panel

Autosomal Dominant Cutis Laxa , Sequencing ELN Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ELN gene.

More info about this panel

Autosomal Dominant Cutis Laxa, Deletions-Duplications (MLPA) ELN Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ELN gene.

More info about this panel

Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TALDO1 ATP6V0A2 COG7 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A

More info about this panel

Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel

Spain.

By Reference Laboratory Genetics Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 ADAMTS10 SLC2A10 CBS ACVR1

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