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
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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![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Male) Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
NGS Skeletal Dysplasia Panel Panel
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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![](/img/flags/United-states.png)
DTDST-related dysplasias: Sulfate Transporter-Related Osteochondrodysplasia Panel
![](/img/flags/Switzerland.png.pagespeed.ce.J0yNRX_kke.png)
By Centre of Molecular Diseases (CMM) CHUV
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Switzerland.png.pagespeed.ce.J0yNRX_kke.png)
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
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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![](/img/flags/United-states.png)
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
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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![](/img/flags/United-states.png)
SLC26A2. Detection of the mutations p.Arg279Trp, c.-26 2T>C and p.Cys653Ser by sequencing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
SLC26A2. Detection of the mutations IVS1 2T>C, p.Arg178X, p.Arg279Trp, p.Val340del and p.Cys653Ser by sequencing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
SLC26A2. Complete sequencing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
SLC26A2. Complete sequencing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
SLC26A2. Detection of the mutations pp.Arg279Trp, p.Cys653Ser, p.Arg178X and c.-26 2T>C by sequencing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
SLC26A2. Complete sequencing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Sulfate Transporter-Related Osteochondrodysplasia Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Epiphyseal dysplasia multiple (NGS panel for 7 gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Skeletal dysplasia (NGS panel for 31 genes) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Epiphyseal dysplasia (sequence analysis of SLC26A2 gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
diastrophic dysplasia Panel
![](/img/flags/Poland.png.pagespeed.ce.Md_1dszNnR.png)
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Poland.png.pagespeed.ce.Md_1dszNnR.png)
Diastrophic Dysplasia Panel
![](/img/flags/India.png.pagespeed.ce._Ki-ExtRwz.png)
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/India.png.pagespeed.ce._Ki-ExtRwz.png)
Multiple Epiphyseal Dysplasia Sequencing Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
SLC26A2-Related Disorders via SLC26A2 Sequencing with CNV Detection Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/United-states.png)
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Achondrogenesis Deletion/ Duplication panel Panel
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By Connective Tissue Gene Tests Achondrogenesis Deletion/ Duplication panel that also includes the following genes: SLC26A2 TRIP11
More info about this panel![](/img/flags/United-states.png)
Achondrogenesis NGS panel Panel
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By Connective Tissue Gene Tests Achondrogenesis NGS panel that also includes the following genes: SLC26A2 TRIP11
More info about this panel![](/img/flags/United-states.png)
Achondrogenesis Comprehensive panel Panel
![](/img/flags/United-states.png)
By Connective Tissue Gene Tests Achondrogenesis Comprehensive panel that also includes the following genes: SLC26A2 TRIP11
More info about this panel![](/img/flags/United-states.png)
Desbuquois dysplasia and related disorders Deletion / Duplication panel Panel
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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![](/img/flags/United-states.png)
Desbuquois dysplasia and related disorders NGS panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Desbuquois dysplasia and related disorders Comprehensive panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel Panel
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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![](/img/flags/United-states.png)
Multiple epiphyseal dysplasia (MED) NGS panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Multiple epiphyseal dysplasia (MED) Comprehensive panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Skeletal dysplasia core & extended Deletion / Duplication panel Panel
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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![](/img/flags/United-states.png)
Skeletal dysplasia core & extended Comprehensive panel Panel
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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![](/img/flags/United-states.png)
Skeletal dysplasia core Comprehensive panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Skeletal dysplasia core NGS panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Skeletal dysplasia core & extended NGS panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Skeletal dysplasia core Deletion / Duplication panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Diastrophic dysplasia Comprehensive test Panel
![](/img/flags/United-states.png)
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/United-states.png)
Achondrogenesis, type IB - SLC26A2 Sequencing test Panel
![](/img/flags/United-states.png)
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/United-states.png)
Achondrogenesis, type IB - SLC26A2 Deletion / Duplication test Panel
![](/img/flags/United-states.png)
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/United-states.png)
Diastrophic dysplasia Deletion / Duplication test Panel
![](/img/flags/United-states.png)
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/United-states.png)
Atelosteogenesis, type II Deletion / Duplication test Panel
![](/img/flags/United-states.png)
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/United-states.png)
Atelosteogenesis, type II Comprehensive test Panel
![](/img/flags/United-states.png)
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/United-states.png)
Achondrogenesis, type IB - SLC26A2 Comprehensive test Panel
![](/img/flags/United-states.png)
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/United-states.png)
Atelosteogenesis, type II Sequencing test Panel
![](/img/flags/United-states.png)
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/United-states.png)
Diastrophic dysplasia Sequencing test Panel
![](/img/flags/United-states.png)
By Connective Tissue Gene Tests
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/United-states.png)
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
CentoICU platinum plus Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
New Born testing (CentoICU) Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
SLC26A2 related disorders Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Achondrogenesis Ib Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Single gene testing SLC26A2 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Multiple epiphyseal dysplasia and pseudoachondroplasia Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Potentially lethal skeletal disorders Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Skeletal Dysplasia Panel
![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
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![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Achondrogenesis Ib Panel
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By Praxis fuer Humangenetik Wien
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
Atelosteogenesis II Panel
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By Praxis fuer Humangenetik Wien
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
Diastrophic dysplasia Panel
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By Praxis fuer Humangenetik Wien
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
Epiphyseal dysplasia, multiple, 4 Panel
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By Praxis fuer Humangenetik Wien
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
Family Prep Screen Panel
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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![](/img/flags/United-states.png)
qCarrier Plus Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Achondrogenesis Ib Panel
![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
By MedGene
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
Atelosteogenesis II Panel
![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
By MedGene
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
Diastrophic dysplasia Panel
![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
By MedGene
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
Epiphyseal dysplasia, multiple, 4 Panel
![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
By MedGene
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
Achondrogenesis type 1b: SLC26A2 gene screening Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Achondrogenesis type 1b: SLC26A2 gene sequence analysis Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Atelosteogenesis type 2: SLC26A2 gene sequence analysis Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Diastrophic dysplasia: SLC26A2 gene mutation analysis Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Diastrophic dysplasia: SLC26A2 gene sequence analysis Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Multiple epiphyseal dysplasia Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Skeletal dysplasias Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
NGS panel - Stickler syndrome and related disorders Panel
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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![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Multiple Epiphyseal Dysplasia: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Disproportionate Short Stature: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Skeletal Dysplasia: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Disproportionate Short Stature: Deletion/Duplication Panel Panel
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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![](/img/flags/United-states.png)
Sulfate Transporter-Related Osteochondrodysplasias, includes Achondrogenesis Type 1B, Atelosteogenesis Type 2, Diastrophic Dysplasia, and Recessive Multiple Epiphyseal Dysplasia (SLC26A2) Panel
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By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/United-states.png)
Inheritest NGS, Comprehensive Panel
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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![](/img/flags/United-states.png)
Multiple Epiphyseal Dysplasia NGS Panel Panel
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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![](/img/flags/United-states.png)
Skeletal Dysplasias NGS panel Panel
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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![](/img/flags/United-states.png)
SLC26A2 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/United-states.png)
Skeletal Dysplasias Core Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel
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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![](/img/flags/United-states.png)
ACHONDROGENESIS, TYPE IB; ACG1B Panel
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By Bioarray
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Multiple epiphyseal dysplasia type 4 Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Bioarray
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Diastrophic dysplasia Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Bioarray
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
ACHONDROGENESIS TYPE 1B Panel
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By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
ATELOSTEOGENESIS TYPE 2 Panel
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By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
DIASTROPHIC DYSPLASIA Panel
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By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
EPIPHYSEAL DYSPLASIA, MULTIPLE (AUTOSOMAL RECESSIVE) Panel
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By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
SKELETAL DYSPLASIA NGS PANEL Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Achondrogenesis Type 1B, Sequencing SLC26A2 Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Atelosteogenesis Type 2, Sequencing SLC26A2 Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Diastrophic Dysplasia , Sequencing SLC26A2 Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Achondrogenesis Type 1B, Screening Mutations SLC26A2 Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Diastrophic Dysplasia , Mutations SLC26A2 Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the SLC26A2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Multiple Epiphyseal Dysplasia , Panel Massive Sequencing (NGS) 7 Genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Achondrogenesis/Hypochondrogenesis , Panel Massive Sequencing (NGS) 5 Genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
planTrue Extended Panel
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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![](/img/flags/United-states.png)
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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