PLOD1 gene related symptoms and diseases
All the information presented here about the PLOD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PLOD1 gene
Symptoms // Phenotype | % Cases |
---|---|
Generalized hypotonia | Very Common - Between 80% and 100% cases |
Recurrent pneumonia | Very Common - Between 80% and 100% cases |
Aortic aneurysm | Very Common - Between 80% and 100% cases |
Intracranial hemorrhage | Very Common - Between 80% and 100% cases |
Hyperextensible skin | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PLOD1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Corneal dystrophy
- Aortic regurgitation
- Torticollis
- Spina bifida occulta
- Joint dislocation
- Hyperbilirubinemia
- Increased body weight
- Spina bifida
And 90 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PLOD1 gene
Here you will find a list of rare diseases related to the PLOD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE
Alternate names
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi, eds6, ehlers-danlos syndrome, oculoscoliotic type, ehlers-danlos syndrome, ocular-scoliotic type, eds, oculoscoliotic type, eds6a, formerly, nevo syndrome, eds via, ehlers-danlos syndrome, type vi, ehlers-danlos syndrome, type via, formerly, eds, kyphoscoli
Description
Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
Most common symptoms of EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Muscular hypotonia
- Cryptorchidism
More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE
Search interest in PLOD1
Potential gene panels for PLOD1 gene
PLOD1 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PLOD1 gene.
More info about this panelPLOD1 Sequence Analysis (Familial Mutation/Variant Analysis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PLOD1 gene.
More info about this panelPLOD1 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PLOD1 gene.
More info about this panelNGS Aortic Dysfunction or Dilation and Related Disorders Panel Panel
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 panelNGS Connective Tissue Disorders Panel Panel
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 panelEhlers-Danlos type VI (EDS VI) genomic sequencing and deletion/duplication analysis Panel
By Collagen Diagnostic Laboratory University of Washington
This panel specifically test the PLOD1 gene.
More info about this panelComprehensive Ehlers-Danlos Syndrome Panel Panel
By Collagen Diagnostic Laboratory University of Washington Comprehensive Ehlers-Danlos Syndrome Panel that also includes the following genes: C1R C1S FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14
More info about this panelCardiomyopathy Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1
More info about this panelConnective Tissue Disorders Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB ACTA2 SLC2A10 CBS
More info about this panelFamilial Aneurysm and Aortopathy Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Familial Aneurysm and Aortopathy that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB ACTA2 SLC2A10 CBS
More info about this panelPLOD1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PLOD1 gene.
More info about this panelEhlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the PLOD1 gene.
More info about this panelEhlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the PLOD1 gene.
More info about this panelAortopathy Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Aortopathy Panel, Sequencing and Deletion/Duplication that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1 COL5A2
More info about this panelConnective Tissue Disorders Panel Panel
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 panelEhlers-Danlos Syndrome Panel Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Ehlers-Danlos Syndrome Panel that also includes the following genes: TNXB C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL1A2 COL3A1
More info about this panelEhlers-Danlos Syndrome, Kyphoscoliotic Type Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the PLOD1 gene.
More info about this panelCOL3A1 gene sequence and deletion/duplication reflex TAADNext Panel
By Ambry Genetics COL3A1 gene sequence and deletion/duplication reflex TAADNext that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panelCustomNext: Cardio Panel
By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20
More info about this panelTAADNext Panel
By Ambry Genetics TAADNext that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panelFBN1 gene sequence and deletion/duplication reflex TAADNext Panel
By Ambry Genetics FBN1 gene sequence and deletion/duplication reflex TAADNext that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panelPLOD1. Detección de la duplicación intron 9-16 Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PLOD1 gene.
More info about this panelPLOD1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PLOD1 gene.
More info about this panelConnective Tissue Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq Analysis that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL1A2
More info about this panelConnective Tissue Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq + Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panelConnective Tissue Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panelEhlers-Danlos Syndrome type VI (sequence analysis of PLOD1 gene) Panel
By CGC Genetics
This panel specifically test the PLOD1 gene.
More info about this panelEhlers-Danlos syndrome type VI (deletion/duplication analysis of PLOD1 gene) Panel
By CGC Genetics
This panel specifically test the PLOD1 gene.
More info about this panelEhlers-Danlos syndrome (NGS panel for 12 genes) Panel
By CGC Genetics Ehlers-Danlos syndrome (NGS panel for 12 genes) that also includes the following genes: TNXB FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14 PLOD1
More info about this panelMarfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel
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 panelEhlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel
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 panelEhlers-Danlos Syndrome, Kyphoscoliotic Form via PLOD1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the PLOD1 gene.
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panelEhlers-Danlos syndrome Deletion / Duplication panel - Recessive Panel
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1
More info about this panelEhlers-Danlos syndrome NGS panel - Dominant & Recessive Panel
By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panelEhlers-Danlos syndrome Comprehensive panel - Recessive Panel
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1
More info about this panelEhlers-Danlos syndrome NGS panel - Recessive Panel
By Connective Tissue Gene Tests Ehlers-Danlos syndrome NGS panel - Recessive that also includes the following genes: B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 ZNF469 CHST14 ATP7A PLOD1
More info about this panelEhlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive Panel
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panelEhlers-Danlos syndrome Comprehensive panel - Dominant & Recessive Panel
By Connective Tissue Gene Tests Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive that also includes the following genes: C1R C1S B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panelConnective tissue disorder Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panelConnective tissue disorder Comprehensive panel Panel
By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panelConnective tissue disorder NGS panel Panel
By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panelMarfan syndrome, EDS and other connective tissue disorders - different panels Panel
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 panelEhlers-Danlos Syndrome (EDS) Panel
By MGZ Medical Genetics Center Ehlers-Danlos Syndrome (EDS) that also includes the following genes: TNXB FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 ZNF469 CHST14
More info about this panelVascular and connective tissue diseases - panels Panel
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 panelEhlers-Danlos Sydrome, Kyphoscoliotic Form Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the PLOD1 gene.
More info about this panelEhlers Danlos syndrome Panel
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Ehlers Danlos syndrome that also includes the following genes: COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
More info about this panelEhlers-Danlos syndrome type VI Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PLOD1 gene.
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelConnective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
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 panelConnective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
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 panelEhlers-Danlos Syndrome Panel
By Laboratory of Human Genetics GENOMED Health Care Center Ehlers-Danlos Syndrome that also includes the following genes: COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
More info about this panelEhlers-Danlos Syndrome Panel
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 panelPLOD1 mutational analysis Panel
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the PLOD1 gene.
More info about this panelRecessive EDS panel Panel
By Connective Tissue Laboratory Ghent University Hospital Recessive EDS panel that also includes the following genes: XYLT1 B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 CHST14 PLOD1 B3GAT3 B4GALT7
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
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 panelAortic Valvular Diseases Panel Panel
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 panelCardiovascular Diseases_General Panel Panel
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 panelAortic diseases Panel Panel
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 panelPLOD1 Gene Sequencing Panel
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the PLOD1 gene.
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelInvitae Aortopathy Comprehensive Panel Panel
By Invitae Invitae Aortopathy Comprehensive Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panelInvitae Ehlers-Danlos Syndrome Panel Panel
By Invitae Invitae Ehlers-Danlos Syndrome Panel that also includes the following genes: FKBP14 P3H1 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CRTAP CHST14
More info about this panelEhlers-Danlos syndrome type VI: PLOD1 gene deletions-duplications analysis (MLPA) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PLOD1 gene.
More info about this panelEHLERS-DANLOS, SYNDROME Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EHLERS-DANLOS, SYNDROME that also includes the following genes: TNXB SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14 PLOD1 B4GALT7
More info about this panelNGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panelNGS panel - Aortic or arterial dilatation / dissection Panel
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 panelNGS panel- Aortic or arterial dilatation/dissection Panel
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 panelNGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 Panel
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panelNGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panelNGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 Panel
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL3A1
More info about this panelNGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA Panel
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 panelNGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA Panel
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panelNGS panel- Aortic or arterial dilatation/dissection + COL5A1 Panel
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 panelConnective Tissue Disorders: Sequencing Panel Panel
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 panelConnective Tissue Disorders: Deletion/Duplication Panel Panel
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 panelConnective Tissue NGS Panel Panel
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 panelEhlers-Danlos Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Ehlers-Danlos Syndrome NGS Panel that also includes the following genes: COL3A1 COL5A1 COL5A2 PLOD1
More info about this panelPLOD1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PLOD1 gene.
More info about this panelEhlers-Danlos Panel
By PentaCoreLab Ehlers-Danlos that also includes the following genes: TNXB ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
More info about this panelMarfan Syndrome Panel Panel
By Blueprint Genetics Marfan Syndrome Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ADAMTS10 SLC2A10 CBS
More info about this panelAorta Panel Panel
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 panelEhlers-Danlos Syndrome Panel Panel
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 panelEhlers-Danlos syndrome, type VI Panel
By Bioarray
This panel specifically test the PLOD1 gene.
More info about this panelEhlers-Danlos syndrome, type VI Panel
By Bioarray
This panel specifically test the PLOD1 gene.
More info about this panelOvergrowth and Intellectual Disability NGS and Deletion/Duplication panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel that also includes the following genes: NSD1 CDKN1C TMCO1 SETD2 RNF135 DIS3L2 DNMT3A EZH2 GPC3 NFIX
More info about this panelPLOD1 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the PLOD1 gene.
More info about this panelEHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC, TYPE 6 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the PLOD1 gene.
More info about this panelEHLERS-DANLOS SYNDROME: NGS PANEL-2 Panel
By Laboratorio de Genetica Clinica SL EHLERS-DANLOS SYNDROME: NGS PANEL-2 that also includes the following genes: TNXB B3GALT6 FKBP14 SLC39A13 DSE ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2
More info about this panelEhlers-Danlos syndrome and related disorders panel Panel
By LifeLabs Genetics Ehlers-Danlos syndrome and related disorders panel that also includes the following genes: FKBP14 COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
More info about this panelEhlers-Danlos Syndrome Type VI , Sequencing PLOD1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PLOD1 gene.
More info about this panelEhlers-Danlos Syndrome Type VI , Deletions-Duplications (MLPA) PLOD1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PLOD1 gene.
More info about this panelEhlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes Panel
By Reference Laboratory Genetics Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: TNXB B3GALT6 FKBP14 SLC39A13 ADAMTS2 COL1A2 COL3A1 COL5A1 COL5A2 CHST14
More info about this panelConective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel
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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