B4GALT7 gene related symptoms and diseases
All the information presented here about the B4GALT7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to B4GALT7 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Pulmonic stenosis | Common - Between 50% and 80% cases |
| Narrow mouth | Common - Between 50% and 80% cases |
| Proptosis | Common - Between 50% and 80% cases |
| Kyphoscoliosis | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with B4GALT7 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Osteopenia
- Talipes equinovalgus
- Joint laxity
- Pectus carinatum
- Microtia
- Hypermetropia
- Narrow chest
- Arachnodactyly
And 167 more phenotypes, you can get all of them using our tools for rare diseases.
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Rare diseases associated to B4GALT7 gene
Here you will find a list of rare diseases related to the B4GALT7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EHLERS-DANLOS SYNDROME, PROGEROID TYPE
Alternate names
EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of, ehlers-danlos syndrome with short stature and limb anomalies, edsp1, formerly, eds, progeroid type, xgpt deficiency, dermatan sulfate proteoglycan, proteodermatan sulfate, defective biosynthesis of, edssla, xylosylprotein 4-beta-ga
Description
Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.
Most common symptoms of EHLERS-DANLOS SYNDROME, PROGEROID TYPE
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE
LARSEN-LIKE SYNDROME, B3GAT3 TYPE
Alternate names
LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome, larsen syndrome, autosomal recessive, formerly
Description
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.
Most common symptoms of LARSEN-LIKE SYNDROME, B3GAT3 TYPE
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE
REUNION ISLAND LARSEN-LIKE SYNDROME
Alternate names
REUNION ISLAND LARSEN-LIKE SYNDROME Is also known as multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome
More info about REUNION ISLAND LARSEN-LIKE SYNDROME
SOURCES: ORPHANET
Search interest in B4GALT7
Potential gene panels for B4GALT7 gene
B4GALT7 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the B4GALT7 gene.
More info about this panelMitoMet®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 panelLow Bone Mass Panel (MitomeNGS) Panel
United States.
By Baylor Miraca Genetics Laboratories Low Bone Mass Panel (MitomeNGS) that also includes the following genes: SLC34A1 SLC9A3R1 TNFRSF11A TNFRSF11B IFITM5 SP7 FKBP10 P3H1 SLC39A13 COL1A2
More info about this panelOsteogenesis Imperfecta and Genetic Bone Disorders Panel Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Osteogenesis Imperfecta and Genetic Bone Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC TNFRSF11B WNT1 MBTPS2 SERPINH1 XYLT2 NBAS IFITM5
More info about this panelConnective 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 panelFamilial 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 panelB4GALT7 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the B4GALT7 gene.
More info about this panelConnective 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 panelEhlers-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 panelEhlers-Danlos syndrome, progeroid type 1 (sequence analysis of B4GALT7 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the B4GALT7 gene.
More info about this panelEhlers-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 panelEhlers-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 panelSkeletal 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 panelEhlers-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 panelEhlers-Danlos syndrome, progeroid type, Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome, progeroid type, Comprehensive panel that also includes the following genes: B3GALT6 B4GALT7
More info about this panelEhlers-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 panelEhlers-Danlos syndrome, progeroid type, NGS panel Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome, progeroid type, NGS panel that also includes the following genes: B3GALT6 B4GALT7
More info about this panelEhlers-Danlos syndrome, progeroid type, Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Ehlers-Danlos syndrome, progeroid type, Deletion / Duplication panel that also includes the following genes: B3GALT6 B4GALT7
More info about this panelEhlers-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 panelEhlers-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 panelEhlers-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 panelEhlers-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 panelProgeroid syndromes and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelProgeroid syndromes and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelProgeroid syndromes and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelConnective 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 panelConnective 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 panelConnective 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 panelMental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelMarfan 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 panelEhlers-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 panelVascular 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 panelConnective 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 panelConnective 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 panelProgeria syndromes Panel Panel
Germany.
By CeGaT GmbH Progeria syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BANF1 GTF2H5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
More info about this panelChondrodysplasia punctata Panel Panel
Germany.
By CeGaT GmbH Chondrodysplasia punctata Panel that also includes the following genes: BMP1 TNFRSF11B WNT1 SERPINH1 IFITM5 SP7 FKBP10 ATP6V0A2 P3H1 COL1A2
More info about this panelEhlers-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 panelRecessive 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.
B4GALT7 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the B4GALT7 gene.
More info about this panelCardiovascular 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 panelEHLERS-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 panelCongenital 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 panelNGS 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 panelNGS 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 panelNGS 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 panelNGS 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 panelNGS 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 panelCongenital 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 panelOsteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10
More info about this panelSkeletal 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 panelCongenital 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 panelSkeletal 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 panelB4GALT7 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the B4GALT7 gene.
More info about this panelProgeria and Progeroid Syndromes Panel Panel
Finland.
By Blueprint Genetics Progeria and Progeroid Syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BSCL2 COL3A1 GORAB AGPAT2 ERCC2 ERCC4 ERCC5
More info about this panelOsteogenesis Imperfecta Panel Panel
Finland.
By Blueprint Genetics Osteogenesis Imperfecta Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1
More info about this panelEhlers-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 panelComprehensive 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 panelSkeletal Dysplasia with Abnormal Mineralization Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5
More info about this panelComprehensive 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 panelEHLERS-DANLOS SYNDROME, PROGEROID TYPE Panel
Spain.
By Laboratorio de Genetica Clinica SL EHLERS-DANLOS SYNDROME, PROGEROID TYPE that also includes the following genes: B3GALT6 B4GALT7
More info about this panelEHLERS-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 panelEhlers-Danlos Syndrome Progeroid Type , Sequencing B4GALT7 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the B4GALT7 gene.
More info about this panelEhlers-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
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