SALL1 gene related symptoms and diseases
All the information presented here about the SALL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SALL1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Renal hypoplasia | Very Common - Between 80% and 100% cases |
Microtia | Very Common - Between 80% and 100% cases |
Toe syndactyly | Very Common - Between 80% and 100% cases |
Facial asymmetry | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SALL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Anal atresia
- Epibulbar dermoid
- Vesicoureteral reflux
- Tetralogy of Fallot
- Broad thumb
- Wide mouth
- Rectovaginal fistula
- Abnormal vertebral morphology
And 114 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SALL1 gene
Here you will find a list of rare diseases related to the SALL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TOWNES-BROCKS SYNDROME
Alternate names
TOWNES-BROCKS SYNDROME Is also known as renal-ear-anal-radial syndrome, tbs, rear syndrome, townes syndrome, imperforate anus with hand, foot and ear anomalies, sensorineural deafness with imperforate anus and hypoplastic thumbs
Description
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.
Most common symptoms of TOWNES-BROCKS SYNDROME
- Intellectual disability
- Short stature
- Hearing impairment
- Scoliosis
- Failure to thrive
More info about TOWNES-BROCKS SYNDROME
TOWNES-BROCKS SYNDROME 1; TBS1
Alternate names
TOWNES-BROCKS SYNDROME 1; TBS1 Is also known as deafness, sensorineural, with imperforate anus and thumb anomalies, anus, imperforate, with hand, foot, and ear anomalies, renal-ear-anal-radial syndrome, rear syndrome
Description
Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (Webb et al., 2017).
Most common symptoms of TOWNES-BROCKS SYNDROME 1; TBS1
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
More info about TOWNES-BROCKS SYNDROME 1; TBS1
SOURCES: OMIM
Search interest in SALL1
Potential gene panels for SALL1 gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
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By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel![](/img/flags/United-states.png)
Townes-Brock Syndrome - SALL1 Sequencing Panel
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By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/United-states.png)
Hearing Loss Panel Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panel![](/img/flags/United-states.png)
Abnormal/Ambiguous Genitalia Sequencing Panel Panel
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By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panel![](/img/flags/United-states.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)
Renal Cystic Disorders Sequencing Panel Panel
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By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6
More info about this panel![](/img/flags/United-states.png)
Prenatal SALL1 Gene Sequencing Panel
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By GeneDx
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/United-states.png)
SALL1 Gene Sequencing Panel
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By GeneDx
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/United-states.png)
SALL1. 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 SALL1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
SALL1. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Craniofacial Del/Dup Panel Panel
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By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel![](/img/flags/United-states.png)
Craniofacial Seq + Del/Dup Panel Panel
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By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel![](/img/flags/United-states.png)
Craniofacial Seq Analysis Panel
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By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel![](/img/flags/United-states.png)
Townes-Brocks syndrome (deletion/duplication analysis on SALL1 gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Townes-Brocks syndrome (sequence analysis of SALL1 gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Townes-Brocks Syndrome Panel
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By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/Belgium.png.pagespeed.ce.T9_KUy1C9-.png)
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B
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)
Congenital Limb Malformation Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15
More info about this panel![](/img/flags/United-states.png)
Townes-Brocks Syndrome via SALL1 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the SALL1 gene.
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)
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)
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)
Hereditary kidney disorders - different panels Panel
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By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Nephrology Endocrinology and Electrolytes - panels Panel
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By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Mental Retardation and Dysmorphology - panels Panel
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By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Syndromal Diseases - panels Panel
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By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Townes-Brocks syndrome Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the SALL1 gene.
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)
Single gene testing SALL1 Panel
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By CeGaT GmbH
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Selected Genetic Syndromes with skeletal involvement Panel Panel
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By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Townes-Brokes syndrome Panel
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By Praxis fuer Humangenetik Wien
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.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)
qGenEx Craniofacial Anomalies Panel
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By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Townes-Brokes syndrome Panel
![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
By MedGene
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
Invitae Townes-Brocks Syndrome Test Panel
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By Invitae
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/United-states.png)
Townes Brocks syndrome: SALL1 gene sequence analysis Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hearing Loss: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panel![](/img/flags/United-states.png)
Limb Malformation: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5
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)
Hearing Loss: Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C
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)
SALL1 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/United-states.png)
KidneySeq - 264 Genes Panel
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By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel![](/img/flags/United-states.png)
Comprehensive Hearing Loss and Deafness Panel Panel
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By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Renal Malformation Panel Panel
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By Blueprint Genetics Renal Malformation Panel that also includes the following genes: ROBO2 SALL1 BMP4 SIX1 SIX5 HNF1B WT1 ACTG2 FREM1 FREM2
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Syndromic Hearing Loss Panel Panel
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By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Limb Malformations Panel Panel
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By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Townes-Brocks syndrome Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Bioarray
This panel specifically test the SALL1 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)
TOWNES BROCKS SYNDROME Panel
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By Laboratorio de Genetica Clinica SL
This panel specifically test the SALL1 gene.
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)
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel
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By Laboratorio de Genetica Clinica SL CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 HNF1B UMOD UPK3A
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Townes-Brocks syndrome Panel
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By LifeLabs Genetics
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Townes Brocks Syndrome , Sequencing SALL1 Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Townes-Brocks Syndrome , Deletions-Duplications (MLPA) SALL1 Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the SALL1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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