SOX2 gene related symptoms and diseases
All the information presented here about the SOX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SOX2 gene
Symptoms // Phenotype | % Cases |
---|---|
Microphthalmia | Common - Between 50% and 80% cases |
Global developmental delay | Common - Between 50% and 80% cases |
Anterior pituitary hypoplasia | Common - Between 50% and 80% cases |
Esophageal atresia | Common - Between 50% and 80% cases |
Tracheoesophageal fistula | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SOX2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Optic nerve hypoplasia
- Agenesis of corpus callosum
- Cryptorchidism
- Sensorineural hearing impairment
- Short stature
- Hypoplasia of penis
- Seizures
- Sclerocornea
And 88 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SOX2 gene
Here you will find a list of rare diseases related to the SOX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MICROPHTHALMIA, ISOLATED 1; MCOP1
Alternate names
MICROPHTHALMIA, ISOLATED 1; MCOP1 Is also known as anophthalmia, clinical, isolated, microphthalmos, autosomal recessive, mcop
Description
Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005).
Most common symptoms of MICROPHTHALMIA, ISOLATED 1; MCOP1
- Microphthalmia
- Glaucoma
- Coloboma
- Hypermetropia
- Anophthalmia
More info about MICROPHTHALMIA, ISOLATED 1; MCOP1
SEPTO-OPTIC DYSPLASIA SPECTRUM
Alternate names
SEPTO-OPTIC DYSPLASIA SPECTRUM Is also known as sod, septo-optic dysplasia, de morsier syndrome
Description
Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
Most common symptoms of SEPTO-OPTIC DYSPLASIA SPECTRUM
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Nystagmus
More info about SEPTO-OPTIC DYSPLASIA SPECTRUM
SOURCES: ORPHANET
ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME
Alternate names
ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome, anophthalmia, clinical, with associated anomalies, anophthalmia-esophageal-genital syndrome, microphthalmia and esophageal atresia syndrome, mcops3, syndromic microphthalmia type 3
Description
Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.
Most common symptoms of ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME
Search interest in SOX2
Potential gene panels for SOX2 gene
MitoMet®Plus aCGH Analysis Panel
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By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel![](/img/flags/United-states.png)
Micropthalmia, Optic Nerve Hypoplasia - SOX2 Sequencing Panel
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By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Brain Malformation Panel Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel![](/img/flags/United-states.png)
Septo-Optic Dysplasia and Schizencephaly Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Septo-Optic Dysplasia and Schizencephaly that also includes the following genes: SHH SIX3 SOX2 COL4A1 EMX2 HESX1
More info about this panel![](/img/flags/United-states.png)
Anophthalmia/microphthalmia Panel
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By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2
More info about this panel![](/img/flags/Denmark.png.pagespeed.ce.NsMpWwCVLQ.png)
Microphthalmia, syndromic 3 Panel
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By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Denmark.png.pagespeed.ce.NsMpWwCVLQ.png)
Hypospadias Sequencing Panel Panel
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By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2
More info about this panel![](/img/flags/United-states.png)
SOX2 mutation analysis Panel
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By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
SOX2. MLPA testing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
SOX2. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Microphthalmia, syndromic 3 (sequence analysis of SOX2 gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Microphthalmia (NGS panel for 26 genes) Panel
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By CGC Genetics Microphthalmia (NGS panel for 26 genes) that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Microphthalmia syndromic 3 (deletion/duplication analysis on SOX2 gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Septooptic dysplasia (NGS panel for 17 genes) Panel
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By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Septooptic dysplasia (NGS panel for 17 genes) Panel
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By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection that also includes the following genes: BMP4 BMP7 SIX6 SOX2 RAX VSX2 SMOC1 BCOR CRYBA4 TENM3
More info about this panel![](/img/flags/United-states.png)
Hypospadias Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panel![](/img/flags/United-states.png)
Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection that also includes the following genes: SOX2 HESX1 OTX2 PAX6 PROP1
More info about this panel![](/img/flags/United-states.png)
SOX2-Related Ocular Disorders via SOX2 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/United-states.png)
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection that also includes the following genes: SOX2 SOX3 LHX4 GLI2 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel![](/img/flags/United-states.png)
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E SOX10 SOX2 SOX3 TAC3 TACR3 WDR11 SPRY4 PROKR2
More info about this panel![](/img/flags/United-states.png)
Female Infertility Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel![](/img/flags/United-states.png)
Male Infertility Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel![](/img/flags/United-states.png)
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel![](/img/flags/United-states.png)
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel![](/img/flags/United-states.png)
Ambiguous Genitalia Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panel![](/img/flags/United-states.png)
Mental retardation - different panels Panel
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By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
SOX2 Panel
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By MGZ Medical Genetics Center
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Eye Diseases - panels Panel
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By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
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By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
PAX6-Related Anophthalmia Panel
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By Bioscientia GmbH Center for Human Genetics PAX6-Related Anophthalmia that also includes the following genes: SIX6 SOX2 VSX2 OTX2 PAX6
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Microphthalmia syndromic type 3 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Microphthalmia panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company Microphthalmia panel that also includes the following genes: BMP4 SIX6 SOX2 RAX VSX2 BCOR TENM3 STRA6 ALDH1A3 HCCS
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
CentoICU platinum plus Panel
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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
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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)
Microphthalmy Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Microphthalmy Panel that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Septo-optical dysplasia Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Septo-optical dysplasia Panel that also includes the following genes: SOX2 SOX3 PROKR2 TAX1BP3 FGFR2 HESX1 OTX2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel
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By Asper Biogene Asper Biogene LLC Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis that also includes the following genes: BMP4 SIX6 SOX2 VAX1 VSX1 MFRP RAX VSX2 B3GLCT SMOC1
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Eye diseases comprehensive panel Panel
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By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Developmental Eye Disease panel Panel
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By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1
More info about this panel![](/img/flags/United-states.png)
Septo-optic dysplasia Panel
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By Molecular Vision Laboratory Septo-optic dysplasia that also includes the following genes: SOX2 HESX1 OTX2 PAX6
More info about this panel![](/img/flags/United-states.png)
qChip Panel
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By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Invitae Microphthalmia/Anophthalmia Disorders Panel Panel
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By Invitae Invitae Microphthalmia/Anophthalmia Disorders Panel that also includes the following genes: BMP4 SHH SOX2 PXDN MFRP RAX VSX2 BCOR STRA6 FOXE3
More info about this panel![](/img/flags/United-states.png)
Morsier syndrome: SOX2 gene sequence analysis Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Anophthalmia / Microphthalmia: SOX2 gene sequence analysis Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Septooptic dysplasia Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Septooptic dysplasia that also includes the following genes: SOX2 SOX3 LHX4 FGF8 GLI2 HESX1 LHX3 OTX2 PAX6
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel that also includes the following genes: BMP4 SOX2 VAX1 MFRP GRIP1 FRAS1 VSX2 B3GLCT SMOC1 BCOR
More info about this panel![](/img/flags/United-states.png)
Eye Disorders: Comprehensive Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel![](/img/flags/United-states.png)
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3
More info about this panel![](/img/flags/United-states.png)
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel that also includes the following genes: BMP4 SOX2 VAX1 MFRP GRIP1 FRAS1 VSX2 B3GLCT SMOC1 BCOR
More info about this panel![](/img/flags/United-states.png)
Eye Disorders: Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel![](/img/flags/United-states.png)
Eye Disorders NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel![](/img/flags/United-states.png)
Intellectual Disability NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel![](/img/flags/United-states.png)
Septo-optic Dysplasia NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Septo-optic Dysplasia NGS Panel that also includes the following genes: SOX2 HESX1 OTX2 PAX6 PROP1
More info about this panel![](/img/flags/United-states.png)
SOX2 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Short Stature Syndrome Panel Panel
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By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Neuro-Ophthalmology Panel Panel
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By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Septo-Optic Dysplasia Panel Panel
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By Blueprint Genetics Septo-Optic Dysplasia Panel that also includes the following genes: SOX2 HESX1 OTX2 PAX6
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
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By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Gastrointestinal Atresia Panel Panel
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By Blueprint Genetics Gastrointestinal Atresia Panel that also includes the following genes: SOX2 TTC7A CHD7 RFX6 PTF1A CLMP DHCR7 EFTUD2 FANCB FANCC
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)
Syndromic microphthalmia type 3 Panel
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By Bioarray
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Rapid microarray (CGH and SNP) Panel
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By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel![](/img/flags/United-states.png)
High-Resolution Rapid Microarray (CGH and SNP) Panel
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By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel![](/img/flags/United-states.png)
FoundationOne® Heme Panel
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By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel![](/img/flags/United-states.png)
NeoTYPE® Discovery Profile for Solid Tumors Panel
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By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel![](/img/flags/United-states.png)
Caris MI TumorSeek 592-Gene NGS Panel Panel
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By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel![](/img/flags/United-states.png)
OmniSeq Comprehensive Panel
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By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panel![](/img/flags/United-states.png)
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
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By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel![](/img/flags/United-states.png)
ANOPHTHALMIA/ MICROPHTALMIA Panel
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By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA that also includes the following genes: SHH SIX3 SIX6 SOX2 RAX VSX2 HESX1 OTX2 PAX6
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel
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By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL that also includes the following genes: SALL1 SALL2 BMP4 SHH SIX6 SOX2 PXDN MFRP RAX NAA10
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Providence Personalized Medicine Panel - Solid Tumor Panel
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By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel![](/img/flags/United-states.png)
Anophthalmia/Microphthalmia, Sequencing SOX2 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Septo-Optic Dysplasia , Sequencing SOX2 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes Panel
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By Reference Laboratory Genetics Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: BMP4 SIX6 SOX2 VAX1 RAX VSX2 BCOR STRA6 GDF3 GDF6
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel
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By Reference Laboratory Genetics Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SOX2 SOX3 LHX4 FGF8 GLI2 HESX1 LHX3 OTX2 PAX6
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Tempus xT assay Panel
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By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel![](/img/flags/United-states.png)
Tempus xO assay Panel
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By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel![](/img/flags/United-states.png)
CEN4GEN Lung cancer: Extended gene sequencing Panel Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Lung cancer: Extended gene sequencing Panel that also includes the following genes: ROS1 BRAF SMARCA4 SOX2 STK11 TP53 RUNX1T1 MUC16 FBXW7 CDKN2A
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
SOX2-Related Eye Disorders: gene sequencing Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
SOX2-Related Eye Disorders: gene deletion/duplication Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SOX2 gene.
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Esophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics Esophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel that also includes the following genes: BRCA2 SOX2 XRCC2 BRIP1 CHD7 FANCL FANCM SLX4 UBE2T RFWD3
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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