SLC26A2 gene related symptoms and diseases
All the information presented here about the SLC26A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC26A2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Micromelia | Very Common - Between 80% and 100% cases |
| Micrognathia | Very Common - Between 80% and 100% cases |
| Talipes equinovarus | Very Common - Between 80% and 100% cases |
| Severe short stature | Very Common - Between 80% and 100% cases |
| Short neck | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SLC26A2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cleft palate
- Macrocephaly
- Abnormality of cardiovascular system morphology
- Skeletal dysplasia
- Narrow chest
Not very common - Between 30% and 50% cases
- Thickened nuchal skin fold
- Cystic hygroma
- Short thorax
And 167 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC26A2 gene
Here you will find a list of rare diseases related to the SLC26A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4
Alternate names
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4, multiple epiphyseal dysplasia, autosomal recessive, rmed, edm4, polyepiphyseal dysplasia type 4, multiple epiphyseal dysplasia with bilayered patellae, autosomal recessive multiple epiphyseal dysplasia, multiple epiphyseal dysplasia with clubfoot
Description
Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.
Most common symptoms of MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4
- Short stature
- Generalized hypotonia
- Scoliosis
- Muscular hypotonia
- Cleft palate
More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4
ACHONDROGENESIS TYPE 1B
Alternate names
ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type
Description
Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
Most common symptoms of ACHONDROGENESIS TYPE 1B
- Micrognathia
- Macrocephaly
- Frontal bossing
- Talipes equinovarus
- Anteverted nares
More info about ACHONDROGENESIS TYPE 1B
SOURCES: ORPHANET
ACHONDROGENESIS, TYPE IB; ACG1B
Alternate names
ACHONDROGENESIS, TYPE IB; ACG1B Is also known as achondrogenesis, fraccaro type
Description
The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.
Most common symptoms of ACHONDROGENESIS, TYPE IB; ACG1B
- Micrognathia
- Macrocephaly
- Frontal bossing
- Anteverted nares
- Respiratory insufficiency
More info about ACHONDROGENESIS, TYPE IB; ACG1B
ACHONDROGENESIS, TYPE IA; ACG1A
Alternate names
ACHONDROGENESIS, TYPE IA; ACG1A Is also known as achondrogenesis, houston-harris type
Description
The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.
Most common symptoms of ACHONDROGENESIS, TYPE IA; ACG1A
- Micrognathia
- Cleft palate
- Depressed nasal bridge
- Macrocephaly
- Frontal bossing
More info about ACHONDROGENESIS, TYPE IA; ACG1A
SOURCES: OMIM
DIASTROPHIC DWARFISM
Alternate names
DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia, dd
Description
Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).
Most common symptoms of DIASTROPHIC DWARFISM
- Short stature
- Hearing impairment
- Scoliosis
- Growth delay
- Hypertelorism
More info about DIASTROPHIC DWARFISM
ATELOSTEOGENESIS TYPE II
Alternate names
ATELOSTEOGENESIS TYPE II Is also known as ao2, de la chapelle dysplasia, atelosteogenesis type 2, neonatal osseous dysplasia i, neonatal osseous dysplasia type 1, aoii
Description
Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Most common symptoms of ATELOSTEOGENESIS TYPE II
- Scoliosis
- Micrognathia
- Cleft palate
- Depressed nasal bridge
- Talipes equinovarus
More info about ATELOSTEOGENESIS TYPE II
Search interest in SLC26A2
Potential gene panels for SLC26A2 gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
NGS Skeletal Dysplasia Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Skeletal Dysplasia Panel that also includes the following genes: SLC26A2 SOX9 TRPV4 COL1A2 COMP FGFR3 FLNA HSPG2
More info about this panel United States.
DTDST-related dysplasias: Sulfate Transporter-Related Osteochondrodysplasia Panel
Switzerland.
By Centre of Molecular Diseases (CMM) CHUV
This panel specifically test the SLC26A2 gene.
More info about this panel Switzerland.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
SLC26A2. Detection of the mutations p.Arg279Trp, c.-26 2T>C and p.Cys653Ser by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
SLC26A2. Detection of the mutations IVS1 2T>C, p.Arg178X, p.Arg279Trp, p.Val340del and p.Cys653Ser by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
SLC26A2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
SLC26A2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SLC26A2 SOX9 COL1A2 CRTAP FGFR3 ALPL
More info about this panel Spain.
SLC26A2. Detection of the mutations pp.Arg279Trp, p.Cys653Ser, p.Arg178X and c.-26 2T>C by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
SLC26A2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Sulfate Transporter-Related Osteochondrodysplasia Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel Portugal.
Epiphyseal dysplasia multiple (NGS panel for 7 gene) Panel
Portugal.
By CGC Genetics Epiphyseal dysplasia multiple (NGS panel for 7 gene) that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
More info about this panel Portugal.
Skeletal dysplasia (NGS panel for 31 genes) Panel
Portugal.
By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1
More info about this panel Portugal.
Epiphyseal dysplasia (sequence analysis of SLC26A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel Portugal.
diastrophic dysplasia Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the SLC26A2 gene.
More info about this panel Poland.
Diastrophic Dysplasia Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the SLC26A2 gene.
More info about this panel India.
Multiple Epiphyseal Dysplasia Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Multiple Epiphyseal Dysplasia Sequencing Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
More info about this panel United States.
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection that also includes the following genes: SLC26A2 SOX9 IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B WDR34 IFT140
More info about this panel United States.
SLC26A2-Related Disorders via SLC26A2 Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC26A2 gene.
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.
Achondrogenesis Deletion/ Duplication panel Panel
United States.
By Connective Tissue Gene Tests Achondrogenesis Deletion/ Duplication panel that also includes the following genes: SLC26A2 TRIP11
More info about this panel United States.
Achondrogenesis NGS panel Panel
United States.
By Connective Tissue Gene Tests Achondrogenesis NGS panel that also includes the following genes: SLC26A2 TRIP11
More info about this panel United States.
Achondrogenesis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Achondrogenesis Comprehensive panel that also includes the following genes: SLC26A2 TRIP11
More info about this panel United States.
Desbuquois dysplasia and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders Deletion / Duplication panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22
More info about this panel United States.
Desbuquois dysplasia and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders NGS panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22
More info about this panel United States.
Desbuquois dysplasia and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders Comprehensive panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22
More info about this panel United States.
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel that also includes the following genes: SLC26A2 CANT1 COL9A1 COL9A2 COL9A3 COMP MATN3
More info about this panel United States.
Multiple epiphyseal dysplasia (MED) NGS panel Panel
United States.
By Connective Tissue Gene Tests Multiple epiphyseal dysplasia (MED) NGS panel that also includes the following genes: SLC26A2 CANT1 COL9A1 COL9A2 COL9A3 COMP MATN3
More info about this panel United States.
Multiple epiphyseal dysplasia (MED) Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Multiple epiphyseal dysplasia (MED) Comprehensive panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
More info about this panel United States.
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel United States.
Skeletal dysplasia core & extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia core & extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia core Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core Comprehensive panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2
More info about this panel United States.
Skeletal dysplasia core NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core NGS panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2
More info about this panel United States.
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel United States.
Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel
United States.
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel United States.
Skeletal dysplasia core & extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia core Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core Deletion / Duplication panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2
More info about this panel United States.
Diastrophic dysplasia Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel United States.
Achondrogenesis, type IB - SLC26A2 Sequencing test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel United States.
Achondrogenesis, type IB - SLC26A2 Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel United States.
Diastrophic dysplasia Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel United States.
Atelosteogenesis, type II Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel United States.
Atelosteogenesis, type II Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel United States.
Achondrogenesis, type IB - SLC26A2 Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel United States.
Atelosteogenesis, type II Sequencing test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel United States.
Diastrophic dysplasia Sequencing test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
CentoICU platinum plus Panel
Germany.
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 panel Germany.
New Born testing (CentoICU) Panel
Germany.
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 panel Germany.
SLC26A2 related disorders Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the SLC26A2 gene.
More info about this panel Germany.
Achondrogenesis Ib Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the SLC26A2 gene.
More info about this panel Germany.
Single gene testing SLC26A2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the SLC26A2 gene.
More info about this panel Germany.
Multiple epiphyseal dysplasia and pseudoachondroplasia Panel Panel
Germany.
By CeGaT GmbH Multiple epiphyseal dysplasia and pseudoachondroplasia Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3 PTH1R
More info about this panel Germany.
Potentially lethal skeletal disorders Panel Panel
Germany.
By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1
More info about this panel Germany.
Skeletal Dysplasia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Skeletal Dysplasia that also includes the following genes: ROR2 SLC26A2 SOX9 TRIP11 WNT5A ESCO2 FGFR2 FGFR3 ALPL
More info about this panel Estonia.
Achondrogenesis Ib Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SLC26A2 gene.
More info about this panel Austria.
Atelosteogenesis II Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SLC26A2 gene.
More info about this panel Austria.
Diastrophic dysplasia Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SLC26A2 gene.
More info about this panel Austria.
Epiphyseal dysplasia, multiple, 4 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SLC26A2 gene.
More info about this panel Austria.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
qCarrier Plus Panel
Spain.
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 panel Spain.
Achondrogenesis Ib Panel
Slovakia.
By MedGene
This panel specifically test the SLC26A2 gene.
More info about this panel Slovakia.
Atelosteogenesis II Panel
Slovakia.
By MedGene
This panel specifically test the SLC26A2 gene.
More info about this panel Slovakia.
Diastrophic dysplasia Panel
Slovakia.
By MedGene
This panel specifically test the SLC26A2 gene.
More info about this panel Slovakia.
Epiphyseal dysplasia, multiple, 4 Panel
Slovakia.
By MedGene
This panel specifically test the SLC26A2 gene.
More info about this panel Slovakia.
Achondrogenesis type 1b: SLC26A2 gene screening Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Achondrogenesis type 1b: SLC26A2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Atelosteogenesis type 2: SLC26A2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Diastrophic dysplasia: SLC26A2 gene mutation analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Diastrophic dysplasia: SLC26A2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Multiple epiphyseal dysplasia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Multiple epiphyseal dysplasia that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
More info about this panel Spain.
Skeletal dysplasias Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel Spain.
NGS panel - Stickler syndrome and related disorders Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Stickler syndrome and related disorders that also includes the following genes: SLC26A2 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN
More info about this panel Netherlands.
Multiple Epiphyseal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Multiple Epiphyseal Dysplasia: Sequencing Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
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.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
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.
Sulfate Transporter-Related Osteochondrodysplasias, includes Achondrogenesis Type 1B, Atelosteogenesis Type 2, Diastrophic Dysplasia, and Recessive Multiple Epiphyseal Dysplasia (SLC26A2) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
Multiple Epiphyseal Dysplasia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Multiple Epiphyseal Dysplasia NGS Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
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.
SLC26A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel United States.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
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.
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel
United States.
By Insight Medical Genetics Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel that also includes the following genes: ROR2 BMP1 SLC26A2 SOX9 TWIST1 WNT1 SERPINH1 IFITM5 SP7 FKBP10
More info about this panel United States.
ACHONDROGENESIS, TYPE IB; ACG1B Panel
Spain.
By Bioarray
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Multiple epiphyseal dysplasia type 4 Panel
Spain.
By Bioarray
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Diastrophic dysplasia Panel
Spain.
By Bioarray
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
ACHONDROGENESIS TYPE 1B Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
ATELOSTEOGENESIS TYPE 2 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
DIASTROPHIC DYSPLASIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
EPIPHYSEAL DYSPLASIA, MULTIPLE (AUTOSOMAL RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
More info about this panel Spain.
SKELETAL DYSPLASIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SKELETAL DYSPLASIA NGS PANEL that also includes the following genes: SLC26A2 SOX9 TRIP11 TRPV4 EVC2 SLC35D1 COL10A1 COL11A1 COL11A2 COL1A2
More info about this panel Spain.
Achondrogenesis Type 1B, Sequencing SLC26A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Atelosteogenesis Type 2, Sequencing SLC26A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Diastrophic Dysplasia , Sequencing SLC26A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Achondrogenesis Type 1B, Screening Mutations SLC26A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Diastrophic Dysplasia , Mutations SLC26A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel Spain.
Multiple Epiphyseal Dysplasia , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Multiple Epiphyseal Dysplasia , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3
More info about this panel Spain.
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel
Spain.
By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel Spain.
Achondrogenesis/Hypochondrogenesis , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Achondrogenesis/Hypochondrogenesis , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SLC26A2 TRIP11 COL11A1 COL11A2
More info about this panel Spain.
planTrue Extended Panel
United States.
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel United States.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
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