CHST14 gene related symptoms and diseases
All the information presented here about the CHST14 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CHST14 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Nephrolithiasis | Very Common - Between 80% and 100% cases |
| Hyperextensible skin | Very Common - Between 80% and 100% cases |
| Recurrent skin infections | Very Common - Between 80% and 100% cases |
| Adducted thumb | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CHST14 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cutis laxa
- Microretrognathia
- Joint dislocation
- Narrow palate
- Horseshoe kidney
- Low anterior hairline
- Exotropia
- Large fontanelles
And 94 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CHST14 gene
Here you will find a list of rare diseases related to the CHST14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE
Alternate names
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds, arthrogryposis, distal, with peculiar facies and hydronephrosis, adducted thumb-clubfoot syndrome, ehlers-danlos syndrome, type vib, formerly, atcs, adducted thumb, clubfoot, and progressive joint and skin laxity syndrome, eds6b, formerly, dundar syndrome
Description
Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.
Most common symptoms of EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE
Search interest in CHST14
Potential gene panels for CHST14 gene
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 United States.
Congenital Contractures Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel United States.
Comprehensive Ehlers-Danlos Syndrome Panel Panel
United States.
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 panel United States.
Connective Tissue Disorders Panel Panel
United States.
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 panel United States.
Familial Aneurysm and Aortopathy Panel
United States.
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 panel United States.
Ehlers-Danlos syndrome Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the CHST14 gene.
More info about this panel United States.
Neuromuscular Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panel United States.
Distal Arthrogryposis Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Distal Arthrogryposis Deletion/Duplication Panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3
More info about this panel United States.
Distal Arthrogryposis Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Distal Arthrogryposis Sequencing Panel that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3
More info about this panel United States.
CHST14 - Ehlers-Danlos syndrome, musculocontractural type Panel
Switzerland.
By Centre of Molecular Diseases (CMM) CHUV
This panel specifically test the CHST14 gene.
More info about this panel Switzerland.
CHST14 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the CHST14 gene.
More info about this panel Germany.
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 United States.
Ehlers-Danlos Syndrome Panel Panel
United States.
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 panel United States.
Ehlers-Danlos Syndrome, musculocontractural Type Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the CHST14 gene.
More info about this panel United Kingdom.
CHST14. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CHST14 gene.
More info about this panel Spain.
Ehlers-Danlos Syndrome, Musculocontractural Type (Dundar Syndrome) (sequence analysis of CHST14 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CHST14 gene.
More info about this panel Portugal.
Ehlers-Danlos syndrome (NGS panel for 12 genes) Panel
Portugal.
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 panel Portugal.
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 United States.
Distal Arthrogryposis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Distal Arthrogryposis Sequencing Panel with CNV Detection that also includes the following genes: TNNI2 TNNT3 TPM2 NALCN CHST14 PIEZO2 ECEL1 FBN2 MYBPC1 MYH3
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive Panel
United States.
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 panel United States.
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive Panel
United States.
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 panel United States.
Ehlers-Danlos syndrome Comprehensive panel - Recessive Panel
United States.
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 panel United States.
Ehlers-Danlos syndrome NGS panel - Recessive Panel
United States.
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 panel United States.
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive Panel
United States.
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 panel United States.
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive Panel
United States.
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 panel United States.
Connective tissue disorder Deletion / Duplication panel Panel
United States.
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 panel United States.
Connective tissue disorder Comprehensive panel Panel
United States.
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 panel United States.
Connective tissue disorder NGS panel Panel
United States.
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 panel United States.
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 Germany.
Ehlers-Danlos Syndrome (EDS) Panel
Germany.
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 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.
CHST14 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the CHST14 gene.
More info about this panel Netherlands.
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 Germany.
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 Germany.
Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel
Germany.
By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN
More info about this panel Germany.
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 Estonia.
Recessive EDS panel Panel
Belgium.
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 panel Belgium.
CHST14 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the CHST14 gene.
More info about this panel Belgium.
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.
Invitae Congenital Disorders of Glycosylation Panel Panel
United States.
By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2
More info about this panel United States.
Invitae Ehlers-Danlos Syndrome Panel Panel
United States.
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 panel United States.
EHLERS-DANLOS, SYNDROME Panel
Spain.
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 panel Spain.
Congenital disorder of O-linked glycosylation (CDG) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of O-linked glycosylation (CDG) that also includes the following genes: XYLT1 B4GAT1 HES7 CHSY1 B3GALT6 FKRP POMGNT1 CHST3 POMT2 B3GLCT
More info about this panel Spain.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel
Netherlands.
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 panel Netherlands.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 Panel
Netherlands.
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 panel Netherlands.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Panel
Netherlands.
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 panel Netherlands.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + COL3A1 Panel
Netherlands.
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 panel Netherlands.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FLNA Panel
Netherlands.
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 panel Netherlands.
Congenital Disorders of Glycosylation: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel United States.
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 United States.
Disproportionate Short Stature: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
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 United States.
Disproportionate Short Stature: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panel United States.
Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel United States.
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 United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
CHST14 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CHST14 gene.
More info about this panel United States.
Arthrogryposes Panel Panel
Finland.
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panel Finland.
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 Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Ehlers-Danlos syndrome, musculocontractural type 1 Panel
Spain.
By Bioarray
This panel specifically test the CHST14 gene.
More info about this panel Spain.
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE/ KOSHO TYPE Panel
Spain.
By Laboratorio de Genetica Clinica SL EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE/ KOSHO TYPE that also includes the following genes: DSE CHST14
More info about this panel Spain.
EHLERS-DANLOS SYNDROME: NGS PANEL-2 Panel
Spain.
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 panel Spain.
Ehlers-Danlos Syndrome Musculocontractural Type , Sequencing CHST14 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CHST14 gene.
More info about this panel Spain.
Ehlers-Danlos Syndrome , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
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 panel Spain.
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
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SSX1 SCN5A LIPC CYP2B6 ALDOB CA5A