EYA1 gene related symptoms and diseases
All the information presented here about the EYA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EYA1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Preauricular skin tag | Very Common - Between 80% and 100% cases |
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Atresia of the external auditory canal | Very Common - Between 80% and 100% cases |
| Facial palsy | Very Common - Between 80% and 100% cases |
| Conductive hearing impairment | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with EYA1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Preauricular pit
- Lacrimal duct stenosis
- Renal hypoplasia/aplasia
- Microtia
- Dilatated internal auditory canal
- Abnormality of the pinna
- Cochlear malformation
- Cupped ear
And 98 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EYA1 gene
Here you will find a list of rare diseases related to the EYA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OTOFACIOCERVICAL SYNDROME
Alternate names
OTOFACIOCERVICAL SYNDROME Is also known as fara-chlupackova syndrome, ofc1, ofc syndrome, ofc
Description
Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.
Most common symptoms of OTOFACIOCERVICAL SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Low-set ears
More info about OTOFACIOCERVICAL SYNDROME
BOR SYNDROME
Alternate names
BOR SYNDROME Is also known as melnick-fraser syndrome, branchiootorenal syndrome, branchiootorenal dysplasia
Description
Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
Most common symptoms of BOR SYNDROME
- Hearing impairment
- Sensorineural hearing impairment
- Cleft palate
- High palate
- Myopia
More info about BOR SYNDROME
BRANCHIOOTIC SYNDROME
Alternate names
BRANCHIOOTIC SYNDROME Is also known as bo syndrome 1, branchiootic dysplasia
Description
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).
Most common symptoms of BRANCHIOOTIC SYNDROME
- Hearing impairment
- Micrognathia
- Sensorineural hearing impairment
- Cleft palate
- Low-set ears
More info about BRANCHIOOTIC SYNDROME
Search interest in EYA1
Potential gene panels for EYA1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
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 United States.
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
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 United States.
NGS Hearing Loss Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A
More info about this panel United States.
Branchiootorenal Syndrome - EYA1 Sequencing & Del/Dup Analysis Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the EYA1 gene.
More info about this panel United States.
Test for EYA1-Related Branchiootorenal Spectrum Disorders Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the EYA1 gene.
More info about this panel Netherlands.
OtoSCOPE Panel
United States.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panel United States.
Hearing Loss Panel Panel
United States.
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 United States.
Anterior segment defects Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anterior segment defects that also includes the following genes: PORCN B3GLCT COL4A1 CYP1B1 EYA1 FOXC1 FOXE3 KERA LAMB2 PAX2
More info about this panel Denmark.
OtoSeq Hearing Loss Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center OtoSeq Hearing Loss Panel by next-generation sequencing (NGS) that also includes the following genes: SIX1 SIX5 TMPRSS3 USH1C USH2A CLRN1 CDH23 PCDH15 USH1G WHRN
More info about this panel United States.
EYA1 sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the EYA1 gene.
More info about this panel United States.
Branchiootorenal Spectrum Disorder Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Branchiootorenal Spectrum Disorder Panel that also includes the following genes: SIX1 SIX5 EYA1
More info about this panel United States.
OtoSeq Hearing Loss Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center OtoSeq Hearing Loss Deletion/Duplication Panel that also includes the following genes: SIX1 SIX5 TMPRSS3 USH1C USH2A CLRN1 CDH23 PCDH15 USH1G TMC1
More info about this panel United States.
EYA1 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the EYA1 gene.
More info about this panel United States.
Branchiootorenal Spectrum Disorder Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Branchiootorenal Spectrum Disorder Deletion/Duplication Panel that also includes the following genes: SIX1 SIX5 EYA1
More info about this panel United States.
OtoGenome Test for Hearing Loss (110 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panel United States.
ExomePLUS Cystic Disease & Dysplasia/Agenesis Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Cystic Disease & Dysplasia/Agenesis that also includes the following genes: BMP4 HNF1B TSC1 TSC2 UMOD WT1 INVS NPHP4 FRAS1 ANKS6
More info about this panel United States.
EYA1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EYA1 gene.
More info about this panel Spain.
EYA1. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EYA1 gene.
More info about this panel Spain.
EYA1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EYA1 gene.
More info about this panel Spain.
EYA1. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EYA1 gene.
More info about this panel Spain.
Branchio-oto-renal Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Branchio-oto-renal Del/Dup Panel that also includes the following genes: SIX1 SIX5 EYA1
More info about this panel United States.
Branchio-oto-renal Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Branchio-oto-renal Seq Analysis that also includes the following genes: SIX1 SIX5 EYA1
More info about this panel United States.
Branchio-oto-renal Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Branchio-oto-renal Seq + Del/Dup Panel that also includes the following genes: SIX1 SIX5 EYA1
More info about this panel United States.
Craniofacial Del/Dup Panel Panel
United States.
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 United States.
Audiome (hearing loss panel) Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panel United States.
Craniofacial Seq + Del/Dup Panel Panel
United States.
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 United States.
Craniofacial Seq Analysis Panel
United States.
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 United States.
Syndromic deafness (NGS panel for 62 genes) Panel
Portugal.
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Portugal.
Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel
Portugal.
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panel Portugal.
Branchiootorenal syndrome 1 (sequence analysis of EYA1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the EYA1 gene.
More info about this panel Portugal.
Cataracts (NGS panel for 41 genes) Panel
Portugal.
By CGC Genetics Cataracts (NGS panel for 41 genes) that also includes the following genes: BFSP1 BFSP2 VIM WFS1 FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12
More info about this panel Portugal.
Branchiootorenal syndrome type 1 (BOR1, deletion/duplication analysis of EYA1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the EYA1 gene.
More info about this panel Portugal.
Branchiootorenal syndrome type 1 (BOR1, deletion/duplication analysis of EYA1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the EYA1 gene.
More info about this panel Portugal.
BRANCHIOOTORENAL SYNDROME 1 Panel
Belgium.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the EYA1 gene.
More info about this panel Belgium.
Melnick-Fraser syndrome Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the EYA1 gene.
More info about this panel Germany.
EYA1-Related Branchiootorenal Spectrum Disorders Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the EYA1 gene.
More info about this panel Germany.
Branchiootorenal syndrome via EYA1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the EYA1 gene.
More info about this panel United States.
Branchiootorenal Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Branchiootorenal Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SIX1 SIX5 EYA1
More info about this panel United States.
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel
United States.
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 United States.
Congenital Cataracts Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Cataracts Sequencing Panel with CNV Detection that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
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 Germany.
Cataract Panel
Germany.
By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B
More info about this panel Germany.
Eye Diseases - panels Panel
Germany.
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 Germany.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
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 Germany.
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome Panel
Germany.
By MGZ Medical Genetics Center Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome that also includes the following genes: B3GLCT COL4A1 COL4A2 CYP1B1 MIR184 SLC38A8 EYA1 FOXC1 FOXE3 LTBP2
More info about this panel Germany.
EYA1-Related Branchiootorenal Spectrum Disorders Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the EYA1 gene.
More info about this panel Germany.
EYA1 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the EYA1 gene.
More info about this panel Netherlands.
Otofaciocervical syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EYA1 gene.
More info about this panel Germany.
Cataract panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cataract panel that also includes the following genes: BFSP1 BFSP2 VIM WFS1 UNC45B FYCO1 CHMP4B P3H2 VSX2 BCOR
More info about this panel Germany.
Otofaciocervical syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EYA1 gene.
More info about this panel Germany.
Branchiootorenal syndrome type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EYA1 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Syndromic Hearing Loss Panel Panel
Germany.
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Germany.
Renal Dysplasia, Renal Agenesia, CAKUT Panel Panel
Germany.
By CeGaT GmbH Renal Dysplasia, Renal Agenesia, CAKUT Panel that also includes the following genes: ROBO2 SDCCAG8 BMP4 SIX1 SIX5 SPRY1 TBX18 HNF1B TFAP2A UPK3A
More info about this panel Germany.
Branchiootorenal Syndrome Panel Panel
Germany.
By CeGaT GmbH Branchiootorenal Syndrome Panel that also includes the following genes: SIX1 SIX5 TFAP2A EYA1
More info about this panel Germany.
Cataract Panel Panel
Germany.
By CeGaT GmbH Cataract Panel that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 BCOR AGK SLC16A12
More info about this panel Germany.
Cystic Kidney Disease Panel Panel
Germany.
By CeGaT GmbH Cystic Kidney Disease Panel that also includes the following genes: SIX5 HNF1B UMOD BICC1 EYA1 MUC1 PAX2 PKD2 PKHD1
More info about this panel Germany.
Branchiootorenal Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Branchiootorenal Syndrome that also includes the following genes: SIX1 SIX5 EYA1
More info about this panel Estonia.
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel
Estonia.
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 Estonia.
Cataract Panel
Estonia.
By Asper Biogene Asper Biogene LLC Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM UNC45B FYCO1 PXDN CHMP4B P3H2 VSX2
More info about this panel Estonia.
Branchiootorenal syndrome 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the EYA1 gene.
More info about this panel Austria.
Otofaciocervical syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the EYA1 gene.
More info about this panel Austria.
qChip Panel
Spain.
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 Spain.
qGenEx Craniofacial Anomalies Panel
Spain.
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 Spain.
Branchiootorenal syndrome 1 Panel
Slovakia.
By MedGene
This panel specifically test the EYA1 gene.
More info about this panel Slovakia.
Otofaciocervical syndrome Panel
Slovakia.
By MedGene
This panel specifically test the EYA1 gene.
More info about this panel Slovakia.
Invitae Branchiootorenal Spectrum Disorders Panel Panel
United States.
By Invitae Invitae Branchiootorenal Spectrum Disorders Panel that also includes the following genes: SIX1 EYA1
More info about this panel United States.
Branchiootorenal syndrome: EYA1 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the EYA1 gene.
More info about this panel Spain.
Branchiootorenal syndrome: EYA1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the EYA1 gene.
More info about this panel Spain.
Hearing Loss: Sequencing Panel Panel
United States.
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 United States.
Hearing Loss: Deletion/Duplication Panel Panel
United States.
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 United States.
Hearing Loss NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panel United States.
EYA1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EYA1 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
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 United States.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
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 Finland.
Branchio-Oto-Renal (BOR) Syndrome Panel Panel
Finland.
By Blueprint Genetics Branchio-Oto-Renal (BOR) Syndrome Panel that also includes the following genes: SIX1 SIX5 TFAP2A EYA1
More info about this panel Finland.
Renal Malformation Panel Panel
Finland.
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 Finland.
Cystic Kidney Disease Panel Panel
Finland.
By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS
More info about this panel Finland.
Syndromic Hearing Loss Panel Panel
Finland.
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 Finland.
Kabuki Syndrome Panel Panel
Finland.
By Blueprint Genetics Kabuki Syndrome Panel that also includes the following genes: SIX5 KDM6A CHD7 EYA1 FLNB IRF6 KMT2D
More info about this panel Finland.
Cataract Panel Panel
Finland.
By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1
More info about this panel Finland.
Otofaciocervical syndrome Panel
Spain.
By Bioarray
This panel specifically test the EYA1 gene.
More info about this panel Spain.
Branchiootorenal syndrome Panel
Spain.
By Bioarray
This panel specifically test the EYA1 gene.
More info about this panel Spain.
Branchiootorenal syndrome Panel
Spain.
By Bioarray
This panel specifically test the EYA1 gene.
More info about this panel Spain.
Cystic Disease and Nephronopthisis Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Cystic Disease and Nephronopthisis Gene Set that also includes the following genes: SIX5 HNF1B UMOD NEK8 INVS CRB2 NPHP4 BICC1 AHI1 TTC21B
More info about this panel United States.
Rapid microarray (CGH and SNP) Panel
United States.
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 United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
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 United States.
BOR SYNDROME (BRANCHIO-OTO-RENAL) Panel
Spain.
By Laboratorio de Genetica Clinica SL BOR SYNDROME (BRANCHIO-OTO-RENAL) that also includes the following genes: SIX1 SIX5 EYA1
More info about this panel Spain.
KABUKI/KABUKI-LIKE SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL KABUKI/KABUKI-LIKE SYNDROME NGS PANEL that also includes the following genes: SIX1 SIX5 KDM6A MACROD2 CHD7 KDM1A EYA1 FLNB HNRNPK IRF6
More info about this panel Spain.
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel
Spain.
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 Spain.
Branchio-Oto-Renal Syndrome Type 1, Sequencing EYA1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the EYA1 gene.
More info about this panel Spain.
Otofaciocervical Syndrome , Sequencing EYA1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the EYA1 gene.
More info about this panel Spain.
Branchio-Oto-Renal Syndrome Type 1, Deletions-Duplications (MLPA) EYA1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the EYA1 gene.
More info about this panel Spain.
Branchiootorenal Spectrum Disorders, Panel Massive Sequencing (NGS) EYA1, SIX1, SIX5 Genes Panel
Spain.
By Reference Laboratory Genetics Branchiootorenal Spectrum Disorders, Panel Massive Sequencing (NGS) EYA1, SIX1, SIX5 Genes that also includes the following genes: SIX1 SIX5 EYA1
More info about this panel Spain.
Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA
More info about this panel Spain.
Branchiootorenal Spectrum Disorder: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Branchiootorenal Spectrum Disorder: gene sequencing panel that also includes the following genes: SIX1 SIX5 EYA1
More info about this panel Canada.
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