IQCB1 gene related symptoms and diseases
All the information presented here about the IQCB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IQCB1 gene
Symptoms // Phenotype | % Cases |
---|---|
Rod-cone dystrophy | Very Common - Between 80% and 100% cases |
Congenital blindness | Very Common - Between 80% and 100% cases |
Blindness | Common - Between 50% and 80% cases |
Retinal dystrophy | Common - Between 50% and 80% cases |
Retinal degeneration | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with IQCB1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- High hypermetropia
- Hypermetropia
- Retinopathy
- Abnormality of the kidney
- Stage 5 chronic kidney disease
- Photophobia
- Nephronophthisis
- Abnormality of retinal pigmentation
And 81 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IQCB1 gene
Here you will find a list of rare diseases related to the IQCB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LEBER CONGENITAL AMAUROSIS
Alternate names
LEBER CONGENITAL AMAUROSIS Is also known as crb, amaurosis congenita of leber i, lca, amaurosis congenita of leber, retinal blindness, congenital
Description
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
Most common symptoms of LEBER CONGENITAL AMAUROSIS
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Growth delay
More info about LEBER CONGENITAL AMAUROSIS
SENIOR-LOKEN SYNDROME
Alternate names
SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome, juvenile nephronophthisis with leber amaurosis, loken-senior syndrome, renal dysplasia-retinal aplasia syndrome, nephronophthisis with retinal dystrophy, slsn, renal dysplasia and retinal aplasia, senior-loken syndrome
Description
Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
Most common symptoms of SENIOR-LOKEN SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Ataxia
More info about SENIOR-LOKEN SYNDROME
SENIOR-LOKEN SYNDROME 5; SLSN5
Description
Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see {256100}) and Leber congenital amaurosis (LCA; see {204000}).
Most common symptoms of SENIOR-LOKEN SYNDROME 5; SLSN5
- Rod-cone dystrophy
- Stage 5 chronic kidney disease
- Nephronophthisis
- Congenital blindness
More info about SENIOR-LOKEN SYNDROME 5; SLSN5
Search interest in IQCB1
Potential gene panels for IQCB1 gene
MitoMet®Plus aCGH Analysis Panel
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 panelIQCB1 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the IQCB1 gene.
More info about this panelIQCB1 Familial Mutation/Variant Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the IQCB1 gene.
More info about this panelIQCB1 Prenatal Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the IQCB1 gene.
More info about this panelIQCB1 Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the IQCB1 gene.
More info about this panelIQCB1 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the IQCB1 gene.
More info about this panelLeber Congential Amaurosis Panel (MitomeNGS) Panel
By Baylor Miraca Genetics Laboratories Leber Congential Amaurosis Panel (MitomeNGS) that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
More info about this panelLeber Congenital Amaurosis Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7 CRB1
More info about this panelCiliopathies Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1
More info about this panelNephronophthisis Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Nephronophthisis Deletion/Duplication Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panelRenal Cystic Disorders Sequencing Panel Panel
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 panelNephronophthisis Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Nephronophthisis Sequencing Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panelExomePLUS Cystic Disease & Dysplasia/Agenesis Panel
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 panelSenior-Loken syndrome 5 (sequence analysis of IQCB1 gene) Panel
By CGC Genetics
This panel specifically test the IQCB1 gene.
More info about this panelLeber congenital amaurosis (NGS panel for 20 genes) Panel
By CGC Genetics Leber congenital amaurosis (NGS panel for 20 genes) that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelNephronophthisis (NGS panel for 19 genes) Panel
By CGC Genetics Nephronophthisis (NGS panel for 19 genes) that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panelCiliopathies (NGS panel for 90 genes) Panel
By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8
More info about this panelTest for Senior-Loken Syndrome 5 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the IQCB1 gene.
More info about this panelTest for Senior-Loken Syndrome 5 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the IQCB1 gene.
More info about this panelNephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panelNephronophthisis and Senior-Loken Syndrome via IQCB1/NPHP5 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the IQCB1 gene.
More info about this panelLeber Congenital Amaurosis Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leber Congenital Amaurosis Sequencing Panel with CNV Detection that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 INPP5E CNGA3
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelCiliopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237
More info about this panelFocused Inherited Retinal Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection that also includes the following genes: RHO RP1 RPE65 TULP1 USH2A RPGRIP1 CABP4 PRPF8 NMNAT1 CHM
More info about this panelHereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1
More info about this panelLeber congenital amaurosis and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Comprehensive panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panelLeber congenital amaurosis and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Deletion / Duplication panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panelLeber congenital amaurosis and related disorders NGS panel Panel
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders NGS panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panelNephronophthisis and related disorders NGS panel Panel
By Connective Tissue Gene Tests Nephronophthisis and related disorders NGS panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panelNephronophthisis and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Nephronophthisis and related disorders Comprehensive panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panelNephronophthisis and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Nephronophthisis and related disorders Deletion / Duplication panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panelHereditary kidney disorders - different panels Panel
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 panelSenior-Loken syndrome type 5 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the IQCB1 gene.
More info about this panelNephronophthisis panel Panel
By Centogene AG - the Rare Disease Company Nephronophthisis panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS NPHP4 ANKS6 IQCB1 CEP290 RPGRIP1L CEP164
More info about this panelSenior Loken Syndrome Panel Panel
By CeGaT GmbH Senior Loken Syndrome Panel that also includes the following genes: SDCCAG8 IFT81 ZNF423 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 CEP164
More info about this panelNephronophthisis Panel Panel
By CeGaT GmbH Nephronophthisis Panel that also includes the following genes: NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 SLC41A1 TTC21B ANKS6
More info about this panelSenior Loken Syndrome Panel Panel
By CeGaT GmbH Senior Loken Syndrome Panel that also includes the following genes: SDCCAG8 IFT81 ZNF423 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 CEP164
More info about this panelSenior-Loken Syndrome Panel Panel
By CeGaT GmbH Senior-Loken Syndrome Panel that also includes the following genes: SDCCAG8 IFT81 ZNF423 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 CEP164
More info about this panelLeber Congenital Amaurosis Panel Panel
By CeGaT GmbH Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelEye diseases comprehensive panel Panel
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 panelSenior-Loken Syndrome Panel
By Asper Biogene Asper Biogene LLC Senior-Loken Syndrome that also includes the following genes: SDCCAG8 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 NPHP1 NPHP3
More info about this panelRetinal Dystrophy Panel Panel
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelLeber congenital amaurosis panel Panel
By Molecular Vision Laboratory Leber congenital amaurosis panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
More info about this panelSenior-Loken Syndrome panel Panel
By Molecular Vision Laboratory Senior-Loken Syndrome panel that also includes the following genes: NPHP4 IQCB1 CEP290 NPHP1
More info about this panelMVL Vision Panel Panel
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelInvitae Senior-Loken Syndrome Panel Panel
By Invitae Invitae Senior-Loken Syndrome Panel that also includes the following genes: SDCCAG8 INVS WDR19 NPHP4 IQCB1 CEP290 NPHP1 NPHP3
More info about this panelInvitae Nephronophthisis Panel Panel
By Invitae Invitae Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 TMEM237 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 AHI1
More info about this panelInvitae Ciliopathies Panel Panel
By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237
More info about this panelInvitae Leber Congenital Amaurosis Panel Panel
By Invitae Invitae Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelLeber Congenital Amaurosis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leber Congenital Amaurosis that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelNephronophthisis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Nephronophthisis that also includes the following genes: SDCCAG8 NEK8 INVS NPHP4 AHI1 ANKS6 IQCB1 CEP290 RPGRIP1L GLIS2
More info about this panelEye Disorders: Comprehensive Sequencing Panel Panel
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 panelLeber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelSenior-Loken Syndrome: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Senior-Loken Syndrome: Sequencing and Deletion/Duplication Panel that also includes the following genes: SDCCAG8 INVS NPHP4 IQCB1 CEP290 NPHP1 NPHP3
More info about this panelCiliopathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
More info about this panelRetina/Photoreceptor Dystrophy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelCiliopathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A
More info about this panelEye Disorders: Deletion/Duplication Panel Panel
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 panelCiliopathies NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL
More info about this panelEye Disorders NGS Panel Panel
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 panelNephronophthisis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nephronophthisis NGS Panel that also includes the following genes: SDCCAG8 NEK8 INVS NPHP4 IQCB1 CEP290 RPGRIP1L GLIS2 NPHP1 NPHP3
More info about this panelRetinitis Pigmentosa NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Retinitis Pigmentosa NGS Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelCongenital Hepatic Fibrosis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Congenital Hepatic Fibrosis NGS Panel that also includes the following genes: ARL6 NEK8 TRIM32 INVS BBS7 NPHP4 EVC2 TTC8 AHI1 ARL13B
More info about this panelIQCB1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IQCB1 gene.
More info about this panelKidneySeq - 264 Genes Panel
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 panelSenior-Loken Syndrome Panel Panel
By Blueprint Genetics Senior-Loken Syndrome Panel that also includes the following genes: SDCCAG8 TRAF3IP1 INVS NPHP4 IQCB1 CEP290 NPHP1 NPHP3
More info about this panelNephronophthisis Panel Panel
By Blueprint Genetics Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panelCystic Kidney Disease Panel Panel
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 panelRetinal Dystrophy Panel Panel
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panelLeber Congenital Amaurosis Panel Panel
By Blueprint Genetics Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 CWC27 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CNGA3
More info about this panelCiliopathy Panel Panel
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panelCongenital Hepatic Fibrosis Panel Panel
By Blueprint Genetics Congenital Hepatic Fibrosis Panel that also includes the following genes: CEP41 ARL6 NEK8 TMEM237 TRIM32 ZNF423 INVS DCDC2 WDR19 BBS7
More info about this panelCystic Disease and Nephronopthisis Gene Set Panel
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 panelLEBER CONGENITAL AMAUROSIS Panel
By Laboratorio de Genetica Clinica SL LEBER CONGENITAL AMAUROSIS that also includes the following genes: RPE65 TULP1 RPGRIP1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1 CEP290
More info about this panelSENIOR-LOKEN SYNDROME TYPE 5 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the IQCB1 gene.
More info about this panelLEBER CONGENITAL AMAUROSIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL LEBER CONGENITAL AMAUROSIS NGS PANEL that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 PMPCA RD3 RDH12 SPATA7 CRB1
More info about this panelNEPHRONOPHTHISIS TYPE 5 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the IQCB1 gene.
More info about this panelNEPHRONOPHTHISIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL NEPHRONOPHTHISIS NGS PANEL that also includes the following genes: SDCCAG8 ARL6 NEK8 ZNF423 INVS CEP83 WDR19 NPHP4 TTC21B ANKS6
More info about this panelSENIOR-LOKEN SYNDROME NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SENIOR-LOKEN SYNDROME NGS PANEL that also includes the following genes: SDCCAG8 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 CEP164 NPHP1 NPHP3
More info about this panelLeber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes Panel
By Reference Laboratory Genetics Leber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelNephronophthisis , Panel Massive Sequencing (NGS) 11 Genes Panel
By Reference Laboratory Genetics Nephronophthisis , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SDCCAG8 NEK8 INVS NPHP4 AHI1 IQCB1 CEP290 RPGRIP1L GLIS2 NPHP1
More info about this panelSenior-Loken Syndrome , Panel Massive Sequencing (NGS) 7 Genes Panel
By Reference Laboratory Genetics Senior-Loken Syndrome , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SDCCAG8 TRAF3IP1 WDR19 NPHP4 IQCB1 CEP290 NPHP1
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