CEP290 gene related symptoms and diseases

All the information presented here about the CEP290 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CEP290 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Retinal dystrophy Uncommon - Between 30% and 50% cases
Congenital blindness Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CEP290 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Visual impairment
  • Stage 5 chronic kidney disease
  • Encephalocele
  • Abnormality of the kidney
  • Rod-cone dystrophy
  • Postaxial hand polydactyly
  • Blindness
  • Renal cyst

And 197 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CEP290 gene

Here you will find a list of rare diseases related to the CEP290. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MECKEL SYNDROME


Alternate names

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Description

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

Most common symptoms of MECKEL SYNDROME

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


More info about MECKEL SYNDROME

SOURCES: ORPHANET

MECKEL SYNDROME, TYPE 4; MKS4


Alternate names

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Description

Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Most common symptoms of MECKEL SYNDROME, TYPE 4; MKS4

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


More info about MECKEL SYNDROME, TYPE 4; MKS4

SOURCES: OMIM

BARDET-BIEDL SYNDROME


Alternate names

BARDET-BIEDL SYNDROME Is also known as bbs

Description

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

Most common symptoms of BARDET-BIEDL SYNDROME

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


More info about BARDET-BIEDL SYNDROME

SOURCES: ORPHANET

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

SOURCES: OMIM ORPHANET

BARDET-BIEDL SYNDROME 14; BBS14


Description

BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Most common symptoms of BARDET-BIEDL SYNDROME 14; BBS14

  • Intellectual disability
  • Global developmental delay
  • Obesity
  • Rod-cone dystrophy


More info about BARDET-BIEDL SYNDROME 14; BBS14

SOURCES: OMIM MESH

LEBER CONGENITAL AMAUROSIS 10; LCA10


Description

Leber congenital amaurosis is a severe retinal dystrophy, causing blindness or severe visual impairment at birth or during the first months of life (summary by den Hollander et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (OMIM ).

Most common symptoms of LEBER CONGENITAL AMAUROSIS 10; LCA10

  • Seizures
  • Visual impairment
  • Blindness
  • Cerebellar atrophy
  • Visual loss


More info about LEBER CONGENITAL AMAUROSIS 10; LCA10

SOURCES: OMIM MESH

JOUBERT SYNDROME 5; JBTS5


Most common symptoms of JOUBERT SYNDROME 5; JBTS5

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


More info about JOUBERT SYNDROME 5; JBTS5

SOURCES: OMIM MESH

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

SOURCES: ORPHANET OMIM

JOUBERT SYNDROME WITH OCULORENAL DEFECT


Alternate names

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia, arima syndrome, js-or, js type b, cerebellooculorenal syndrome, joubert syndrome with senior-loken syndrome, cors, joubert syndrome with bilateral chorioretinal coloboma, cerebrooculohepatorenal syndrome, de

Description

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

Most common symptoms of JOUBERT SYNDROME WITH OCULORENAL DEFECT

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

SOURCES: OMIM ORPHANET

SENIOR-LOKEN SYNDROME 6; SLSN6


Most common symptoms of SENIOR-LOKEN SYNDROME 6; SLSN6

  • Visual impairment
  • Reduced visual acuity
  • Abnormality of the nervous system
  • Stage 5 chronic kidney disease
  • Tapetoretinal degeneration


More info about SENIOR-LOKEN SYNDROME 6; SLSN6

SOURCES: MESH OMIM


Potential gene panels for CEP290 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

CEP290 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CEP290 gene.

More info about this panel

CEP290 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CEP290 gene.

More info about this panel

CEP290 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CEP290 gene.

More info about this panel

CEP290 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CEP290 gene.

More info about this panel

Leber Congential Amaurosis Panel (MitomeNGS) Panel

United States.

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 panel

Joubert Syndrome Evaluation Panel

United States.

By Athena Diagnostics Inc Joubert Syndrome Evaluation that also includes the following genes: AHI1 TMEM216 TMEM67 CEP290 CC2D2A NPHP1

More info about this panel

CEP290 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the CEP290 gene.

More info about this panel

Leber Congenital Amaurosis Panel Panel

United States.

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 panel

Retinitis Pigmentosa Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Bardet-Biedl Syndrome Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 INPP5E ADIPOR1 BBS10 BBS12

More info about this panel

Joubert syndrome, Bardet-Biedl, Senior Loken, LCA - CEP290 Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the CEP290 gene.

More info about this panel

Ciliopathies Panel

United States.

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 panel

Comprehensive Brain Malformation Panel Panel

United States.

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

Joubert Syndrome Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Joubert Syndrome that also includes the following genes: CEP41 TMEM237 INPP5E AHI1 B9D1 TMEM216 ARL13B TTC21B OFD1 TCTN2

More info about this panel

Bardet-Biedl Syndrome Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Bardet-Biedl Syndrome Sequencing Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 IFT74 BBS10 BBS12 WDPCP CEP290

More info about this panel

Monogenic Obesity Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Monogenic Obesity Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8

More info about this panel

Joubert/Meckel-Gruber syndrome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Joubert/Meckel-Gruber syndrome Panel that also includes the following genes: CEP41 TMEM237 KIF14 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel

Meckel Gruber Syndrome Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Meckel Gruber Syndrome Sequencing Panel that also includes the following genes: KIF14 B9D1 TCTN3 TMEM216 TCTN2 CSPP1 TMEM107 TMEM67 B9D2 CEP290

More info about this panel

Nephronophthisis Deletion/Duplication Panel Panel

United States.

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 panel

Renal Cystic Disorders Sequencing Panel Panel

United States.

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

Nephronophthisis Sequencing Panel Panel

United States.

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 panel

Bardet-Biedl Syndrome Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Bardet-Biedl Syndrome Deletion/Duplication Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 IFT74 BBS10 BBS12 WDPCP CEP290

More info about this panel

Meckel Gruber Syndrome Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Meckel Gruber Syndrome Deletion/Duplication Panel that also includes the following genes: KIF14 B9D1 TCTN3 TMEM216 TCTN2 CSPP1 TMEM107 TMEM67 B9D2 CEP290

More info about this panel

Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel that also includes the following genes: CEP41 TMEM237 KIF14 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel

Monogenic Obesity Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Monogenic Obesity Deletion/Duplication Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

CEP290 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CEP290 gene.

More info about this panel

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

Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Comprehensive Brain Malformations Panel Panel

United States.

By GeneDx Comprehensive Brain Malformations Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 TMEM237 CASK TSEN34 ARFGEF2 NDE1 FKRP

More info about this panel

CEP290 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the CEP290 gene.

More info about this panel

CEP290. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CEP290 gene.

More info about this panel

CEP290. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CEP290 gene.

More info about this panel

NPHP1, NPHP4, CEP290, RPGRIP1L, GLIS2. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica NPHP1, NPHP4, CEP290, RPGRIP1L, GLIS2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: NPHP4 CEP290 RPGRIP1L GLIS2 NPHP1

More info about this panel

CEP290. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CEP290 gene.

More info about this panel

CEP290. Detection of the mutation c.1219_1220del (p.Met407fs) by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CEP290 gene.

More info about this panel

TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, CEP41, TMEM237. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, CEP41, TMEM237. NextGeneDx.Complete sequencing by NGS that also includes the following genes: CEP41 TMEM237 AHI1 TMEM216 ARL13B OFD1 TMEM67 CEP290 RPGRIP1L CC2D2A

More info about this panel

CEP290. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CEP290 gene.

More info about this panel

CEP290. NextGeneDx. Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CEP290 gene.

More info about this panel

Joubert syndrome type 5 (sequence analysis of CEP290/NPHP6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CEP290 gene.

More info about this panel

Leber congenital amaurosis 10 (LCA10, sequence analysis of CEP290 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CEP290 gene.

More info about this panel

Joubert syndrome (NGS panel for 24 genes) Panel

Portugal.

By CGC Genetics Joubert syndrome (NGS panel for 24 genes) that also includes the following genes: CEP41 TMEM237 ZNF423 INPP5E AHI1 TCTN3 EXOC8 TMEM216 ARL13B TTC21B

More info about this panel

Leber congenital amaurosis (NGS panel for 20 genes) Panel

Portugal.

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 panel

Bardet-Biedl syndrome (NGS panel for 22 genes) Panel

Portugal.

By CGC Genetics Bardet-Biedl syndrome (NGS panel for 22 genes) that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1

More info about this panel

Nephronophthisis (NGS panel for 19 genes) Panel

Portugal.

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 panel

Ciliopathies (NGS panel for 90 genes) Panel

Portugal.

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 panel

Leber congenital amaurosis (deletions/duplications of GUCY2D, RDH12, RPGRIP1 and CEP290 genes) Panel

Portugal.

By CGC Genetics Leber congenital amaurosis (deletions/duplications of GUCY2D, RDH12, RPGRIP1 and CEP290 genes) that also includes the following genes: RPGRIP1 RDH12 CEP290 GUCY2D

More info about this panel

Senior-Loken syndrome 6 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CEP290 gene.

More info about this panel

Joubert syndrome 5 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CEP290 gene.

More info about this panel

Leber congenital amaurosis 10 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CEP290 gene.

More info about this panel

Bardet-Biedl syndrome 14 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CEP290 gene.

More info about this panel

Bardet-Biedl syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Bardet-Biedl syndrome that also includes the following genes: ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9 MKKS

More info about this panel

Meckel syndrome 4 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CEP290 gene.

More info about this panel

Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection Panel

United States.

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 panel

Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG SEMA4A TULP1 USH2A CLRN1 BEST1

More info about this panel

Leber Congenital Amaurosis Sequencing Panel with CNV Detection Panel

United States.

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 panel

Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR SAG SEMA4A TULP1

More info about this panel

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

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

Bardet-Biedl Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bardet-Biedl Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 IFT74 BBS10 BBS12 C8orf37

More info about this panel

Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

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 panel

Ciliopathy Sequencing Panel with CNV Detection Panel

United States.

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 panel

Joubert and Meckel-Gruber Syndromes via CEP290 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CEP290 gene.

More info about this panel

Leber Congenital Amaurosis 10 (LCA10) via CEP290 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CEP290 gene.

More info about this panel

Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection Panel

United States.

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 panel

Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel

United States.

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 panel

Comprehensive Monogenic Obesity Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Monogenic Obesity Panel with CNV Detection that also includes the following genes: BDNF SDCCAG8 SIM1 TUB UCP3 KDM6A ARL6 RAB23 TRIM32 PHF6

More info about this panel

Leber congenital amaurosis and related disorders Comprehensive panel Panel

United States.

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 panel

Leber congenital amaurosis and related disorders Deletion / Duplication panel Panel

United States.

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 panel

Leber congenital amaurosis and related disorders NGS panel Panel

United States.

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 panel

Nephronophthisis and related disorders NGS panel Panel

United States.

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 panel

Nephronophthisis and related disorders Comprehensive panel Panel

United States.

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 panel

Nephronophthisis and related disorders Deletion / Duplication panel Panel

United States.

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 panel

Joubert syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Joubert syndrome and related disorders NGS panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel

Joubert syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Joubert syndrome and related disorders Deletion / Duplication panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel

Joubert syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Joubert syndrome and related disorders Comprehensive panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel

Mental retardation - different panels Panel

Germany.

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

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

CEP290-Related Leber Congenital Amaurosis Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CEP290 gene.

More info about this panel

CEP290-Related Bardet-Biedl Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CEP290 gene.

More info about this panel

CEP290-Related Joubert Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CEP290 gene.

More info about this panel

CEP290-Related Meckel Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CEP290 gene.

More info about this panel

Meckel Gruber Syndrome Panel

India.

By GeneTech ATS GeneTech Private Limited Meckel Gruber Syndrome that also includes the following genes: TMEM67 CEP290 CC2D2A MKS1

More info about this panel

Nephronophthisis panel Panel

Germany.

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 panel

Meckel syndrome type 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CEP290 gene.

More info about this panel

Joubert syndrome type 5 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CEP290 gene.

More info about this panel

Bardet Biedl panel Panel

Germany.

By Centogene AG - the Rare Disease Company Bardet Biedl panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CCDC28B CEP290

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

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

Bardet Biedl Syndrome Panel Panel

Germany.

By CeGaT GmbH Bardet Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP

More info about this panel

Senior Loken Syndrome Panel Panel

Germany.

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 panel

Joubert Syndrome Panel Panel

Germany.

By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel

Joubert Syndrome Panel Panel

Germany.

By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel

Bardet Biedl Syndrome Panel Panel

Germany.

By CeGaT GmbH Bardet Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP

More info about this panel

Cone Rod Dystrophies Panel Panel

Germany.

By CeGaT GmbH Cone Rod Dystrophies Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Joubert Syndrome Panel Panel

Germany.

By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel

Nephronophthisis Panel Panel

Germany.

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 panel

Senior Loken Syndrome Panel Panel

Germany.

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 panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Meckel Syndrome Panel Panel

Germany.

By CeGaT GmbH Meckel Syndrome Panel that also includes the following genes: B9D1 TMEM216 TCTN2 WDPCP TMEM67 B9D2 CEP290 RPGRIP1L CC2D2A TMEM231

More info about this panel

Senior-Loken Syndrome Panel Panel

Germany.

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 panel

Bardet-Biedl Syndrome Panel Panel

Germany.

By CeGaT GmbH Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP

More info about this panel

Joubert Syndrome Panel Panel

Germany.

By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel

Leber Congenital Amaurosis Panel Panel

Germany.

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 panel

Leber Congenital Amaurosis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Leber Congenital Amaurosis that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX CEP290

More info about this panel

Bardet Biedl Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Bardet Biedl Syndrome that also includes the following genes: SDCCAG8 ARL6 TRIM32 PHF6 BBS7 TTC8 BBS10 BBS12 WDPCP CCDC28B

More info about this panel

Joubert Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Joubert Syndrome that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel

Brain malformations Panel

Estonia.

By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

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

Senior-Loken Syndrome Panel

Estonia.

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 panel

Retinal Dystrophy Panel Panel

United States.

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 panel

Bardet-Biedl syndrome panel Panel

United States.

By Molecular Vision Laboratory Bardet-Biedl syndrome panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 INPP5E BBS10 BBS12 C8orf37

More info about this panel

Leber congenital amaurosis panel Panel

United States.

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 panel

Joubert Syndrome Panel Panel

United States.

By Molecular Vision Laboratory Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 INPP5E AHI1 B9D1 TCTN3 TMEM216 ARL13B TTC21B OFD1

More info about this panel

Senior-Loken Syndrome panel Panel

United States.

By Molecular Vision Laboratory Senior-Loken Syndrome panel that also includes the following genes: NPHP4 IQCB1 CEP290 NPHP1

More info about this panel

CEP290 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the CEP290 gene.

More info about this panel

MVL Vision Panel Panel

United States.

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 panel

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

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Invitae Congenital Heart Defects and Heterotaxy Panel Panel

United States.

By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298

More info about this panel

Invitae Senior-Loken Syndrome Panel Panel

United States.

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 panel

Invitae Bardet-Biedl Syndrome Panel Panel

United States.

By Invitae Invitae Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9

More info about this panel

Invitae Nephronophthisis Panel Panel

United States.

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 panel

Invitae Joubert and Meckel-Gruber Syndromes Panel Panel

United States.

By Invitae Invitae Joubert and Meckel-Gruber Syndromes Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel

Invitae Ciliopathies Panel Panel

United States.

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 panel

Invitae Leber Congenital Amaurosis Panel Panel

United States.

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 panel

Bardet-Biedl syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Bardet-Biedl syndrome that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1 CEP290

More info about this panel

Leber Congenital Amaurosis Panel

Spain.

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 panel

Nephronophthisis Panel

Spain.

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 panel

Meckel syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Meckel syndrome that also includes the following genes: B9D1 TMEM216 TCTN2 TMEM67 B9D2 CEP290 RPGRIP1L CC2D2A MKS1 NPHP3

More info about this panel

Joubert syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Joubert syndrome that also includes the following genes: CEP41 TMEM237 AHI1 TMEM216 ARL13B OFD1 TCTN2 CPLANE1 TCTN1 TMEM138

More info about this panel

Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Bardet-Biedl Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bardet-Biedl Syndrome: Sequencing Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

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

Joubert Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Joubert Syndrome: Sequencing Panel that also includes the following genes: CEP41 TMEM237 ZNF423 AHI1 TCTN3 TMEM216 ARL13B TTC21B OFD1 TCTN2

More info about this panel

Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel Panel

United States.

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 panel

Senior-Loken Syndrome: Sequencing and Deletion/Duplication Panel Panel

United States.

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 panel

Ciliopathies: Sequencing Panel Panel

United States.

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 panel

Brain Malformations: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Sequencing Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2

More info about this panel

Limb Malformation: Sequencing Panel Panel

United States.

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

Neurology: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Retina/Photoreceptor Dystrophy: Sequencing Panel Panel

United States.

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 panel

Congenital Obesity: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Obesity: Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 ARL6 TRIM32 PHF6 BBS7 TTC8 VPS13B BBS10 BBS12

More info about this panel

Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Bardet-Biedl Syndrome: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bardet-Biedl Syndrome: Deletion/Duplication Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9

More info about this panel

Brain Malformations: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Deletion/Duplication Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2

More info about this panel

Ciliopathies: Deletion/Duplication Panel Panel

United States.

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 panel

Eye Disorders: Deletion/Duplication Panel Panel

United States.

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

Joubert Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Joubert Syndrome NGS Panel that also includes the following genes: CEP41 TMEM237 AHI1 B9D1 TMEM216 ARL13B TTC21B OFD1 TCTN2 TCTN1

More info about this panel

Ciliopathies NGS Panel Panel

United States.

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 panel

Bardet-Biedl Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Bardet-Biedl Syndrome NGS Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9

More info about this panel

Eye Disorders NGS Panel Panel

United States.

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

Diabetes-Obesity NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

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

Joubert and Meckel NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Joubert and Meckel NGS Panel that also includes the following genes: CEP41 TMEM237 PMPCA AHI1 B9D1 TMEM216 ARL13B OFD1 TCTN2 TMEM138

More info about this panel

Nephronophthisis NGS Panel Panel

United States.

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 panel

Senior-Loken Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Senior-Loken Syndrome NGS Panel that also includes the following genes: SDCCAG8 NPHP4 CEP290 NPHP1 NPHP3

More info about this panel

Retinitis Pigmentosa NGS Panel Panel

United States.

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 panel

Congenital Hepatic Fibrosis NGS Panel Panel

United States.

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 panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

CEP290 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CEP290 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

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

Senior-Loken Syndrome Panel Panel

Finland.

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 panel

Nephronophthisis Panel Panel

Finland.

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 panel

Monogenic Obesity Panel Panel

Finland.

By Blueprint Genetics Monogenic Obesity Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 PHF6 KSR2 BBS7 TTC8 VPS13B

More info about this panel

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

Retinal Dystrophy Panel Panel

Finland.

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 panel

Leber Congenital Amaurosis Panel Panel

Finland.

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 panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

Joubert Syndrome Panel Panel

Finland.

By Blueprint Genetics Joubert Syndrome Panel that also includes the following genes: CEP41 CFAP410 TMEM237 ZNF423 KIAA0586 ARMC9 INPP5E AHI1 B9D1 TCTN3

More info about this panel

Retinitis Pigmentosa Panel Panel

Finland.

By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27

More info about this panel

Ciliopathy Panel Panel

Finland.

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 panel

Congenital Hepatic Fibrosis Panel Panel

Finland.

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 panel

Bardet-Biedl Syndrome Panel Panel

Finland.

By Blueprint Genetics Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 PNPLA6 TRIM32 BBS7 TTC8 BBS10 BBS12 C8orf37 WDPCP

More info about this panel

Meckel Syndrome Panel Panel

Finland.

By Blueprint Genetics Meckel Syndrome Panel that also includes the following genes: KIF14 B9D1 TMEM216 TCTN2 TMEM107 TMEM67 B9D2 CEP290 RPGRIP1L CC2D2A

More info about this panel

Joubert syndrome type 5 Panel

Spain.

By Bioarray

This panel specifically test the CEP290 gene.

More info about this panel

Leber congenital amaurosis Panel

Spain.

By Bioarray

This panel specifically test the CEP290 gene.

More info about this panel

Meckel syndrome type 4 Panel

Spain.

By Bioarray

This panel specifically test the CEP290 gene.

More info about this panel

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

BARDET-BIEDL SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL BARDET-BIEDL SYNDROME that also includes the following genes: ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 CEP290 BBS9 MKKS MKS1

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MECKEL SYNDROME (MECKEL-GRUBER) Panel

Spain.

By Laboratorio de Genetica Clinica SL MECKEL SYNDROME (MECKEL-GRUBER) that also includes the following genes: TMEM216 TMEM67 CEP290 RPGRIP1L CC2D2A MKS1

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JOUBERT SYNDROME (JBTS) Panel

Spain.

By Laboratorio de Genetica Clinica SL JOUBERT SYNDROME (JBTS) that also includes the following genes: INPP5E AHI1 TCTN3 TMEM216 ARL13B OFD1 CPLANE1 TMEM67 CEP290 RPGRIP1L

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LEBER CONGENITAL AMAUROSIS Panel

Spain.

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

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SENIOR-LOKEN SYNDROME TYPE 6 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CEP290 gene.

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BARDET-BIEDL SYNDROME (NGS) Panel

Spain.

By Laboratorio de Genetica Clinica SL BARDET-BIEDL SYNDROME (NGS) that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1

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LEBER CONGENITAL AMAUROSIS NGS PANEL Panel

Spain.

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

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NEPHRONOPHTHISIS TYPE 6 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CEP290 gene.

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NEPHRONOPHTHISIS NGS PANEL Panel

Spain.

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

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SENIOR-LOKEN SYNDROME NGS PANEL Panel

Spain.

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

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SÍNDROME DE MECKEL/ MECKEL-GRUBER/ MECKEL-GRUBER-LIKE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SÍNDROME DE MECKEL/ MECKEL-GRUBER/ MECKEL-GRUBER-LIKE NGS PANEL that also includes the following genes: TMEM237 KIAA0586 TXNDC15 AHI1 B9D1 TMEM216 TTC21B TCTN2 TCTN1 CSPP1

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Joubert with Oculorenal Defect Syndrome, Sequencing CEP290 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CEP290 gene.

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Leber Congenital Amaurosis Type 10 , Sequencing CEP290 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CEP290 gene.

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Meckel Syndrome , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Meckel Syndrome , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: B9D1 TMEM216 TCTN2 TMEM67 B9D2 CEP290 RPGRIP1L CC2D2A MKS1 NPHP3

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Bardet-Biedl Syndrome , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Bardet-Biedl Syndrome , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1 CEP290

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Joubert Syndrome , Panel Massive Sequencing (NGS) 13 Genes Panel

Spain.

By Reference Laboratory Genetics Joubert Syndrome , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: CEP41 TMEM237 INPP5E AHI1 TMEM216 ARL13B OFD1 TMEM138 TMEM67 CEP290

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Leber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes Panel

Spain.

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

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Nephronophthisis , Panel Massive Sequencing (NGS) 11 Genes Panel

Spain.

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

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Senior-Loken Syndrome , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

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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Syndromic Hirschsprung Disease: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: BDNF SDCCAG8 SOX10 ARL6 ZEB2 TRIM32 BBS7 TTC8 KIF1BP BBS10

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Bardet-Biedl Syndrome: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Bardet-Biedl Syndrome: gene sequencing panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1

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