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.

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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

SOURCES: MESH OMIM ORPHANET

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. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA (ACG1A ), corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB, corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder.

Most common symptoms of ACHONDROGENESIS, TYPE IB; ACG1B

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Respiratory insufficiency


More info about ACHONDROGENESIS, TYPE IB; ACG1B

SOURCES: OMIM ORPHANET

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. Classification of AchondrogenesisAchondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (OMIM ), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (OMIM ). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. Genetic Heterogeneity of AchondrogenesisAchondrogenesis type IB (ACG1B ) is caused by mutation in the DTDST gene (OMIM ), and achondrogenesis type II (ACG2 ) is caused by mutation in the COL2A1 gene (OMIM ).

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

SOURCES: ORPHANET OMIM MESH

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

SOURCES: OMIM MESH ORPHANET


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

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

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

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

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

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

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

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

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

SLC26A2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SLC26A2 gene.

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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

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.

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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

Sulfate Transporter-Related Osteochondrodysplasia Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC26A2 gene.

More info about this panel

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

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

Epiphyseal dysplasia (sequence analysis of SLC26A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC26A2 gene.

More info about this panel

diastrophic dysplasia Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the SLC26A2 gene.

More info about this panel

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

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

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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

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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

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

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Achondrogenesis Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Achondrogenesis Deletion/ Duplication panel that also includes the following genes: SLC26A2 TRIP11

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Achondrogenesis NGS panel Panel

United States.

By Connective Tissue Gene Tests Achondrogenesis NGS panel that also includes the following genes: SLC26A2 TRIP11

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Achondrogenesis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Achondrogenesis Comprehensive panel that also includes the following genes: SLC26A2 TRIP11

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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

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

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

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

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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

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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

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

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

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

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

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

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

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

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

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

Diastrophic dysplasia Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SLC26A2 gene.

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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

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

Diastrophic dysplasia Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SLC26A2 gene.

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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

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

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

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

Diastrophic dysplasia Sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the SLC26A2 gene.

More info about this panel

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

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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

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

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

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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

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

Achondrogenesis Ib Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the SLC26A2 gene.

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Single gene testing SLC26A2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the SLC26A2 gene.

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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

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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

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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

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Achondrogenesis Ib Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SLC26A2 gene.

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Atelosteogenesis II Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SLC26A2 gene.

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Diastrophic dysplasia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SLC26A2 gene.

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Epiphyseal dysplasia, multiple, 4 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SLC26A2 gene.

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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

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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

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Achondrogenesis Ib Panel

Slovakia.

By MedGene

This panel specifically test the SLC26A2 gene.

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Atelosteogenesis II Panel

Slovakia.

By MedGene

This panel specifically test the SLC26A2 gene.

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Diastrophic dysplasia Panel

Slovakia.

By MedGene

This panel specifically test the SLC26A2 gene.

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Epiphyseal dysplasia, multiple, 4 Panel

Slovakia.

By MedGene

This panel specifically test the SLC26A2 gene.

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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.

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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.

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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.

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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

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

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

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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

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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

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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

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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

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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

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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

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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

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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.

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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

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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

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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

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SLC26A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC26A2 gene.

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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

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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

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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

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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

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ACHONDROGENESIS, TYPE IB; ACG1B Panel

Spain.

By Bioarray

This panel specifically test the SLC26A2 gene.

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Multiple epiphyseal dysplasia type 4 Panel

Spain.

By Bioarray

This panel specifically test the SLC26A2 gene.

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Diastrophic dysplasia Panel

Spain.

By Bioarray

This panel specifically test the SLC26A2 gene.

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ACHONDROGENESIS TYPE 1B Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SLC26A2 gene.

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ATELOSTEOGENESIS TYPE 2 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SLC26A2 gene.

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DIASTROPHIC DYSPLASIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SLC26A2 gene.

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EPIPHYSEAL DYSPLASIA, MULTIPLE (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SLC26A2 gene.

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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

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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

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Achondrogenesis Type 1B, Sequencing SLC26A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC26A2 gene.

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Atelosteogenesis Type 2, Sequencing SLC26A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC26A2 gene.

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Diastrophic Dysplasia , Sequencing SLC26A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC26A2 gene.

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Achondrogenesis Type 1B, Screening Mutations SLC26A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC26A2 gene.

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Diastrophic Dysplasia , Mutations SLC26A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC26A2 gene.

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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

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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

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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

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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

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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

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