NPHP3 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger)
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany |
Nephronophthisis: NPHP3 Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Ciliopathies: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Senior-Loken Syndrome: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Neonatal and Adult Cholestasis: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Nephronophthisis: NPHP3 Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Nephronophthisis: NPHP1, INVS, NPHP3, and NPHP4 Gene Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Joubert/Meckel Gruber syndrome Sequencing Panel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Meckel Gruber syndrome Sequencing panel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Joubert Syndrome and Related Disorders Multi-Gene Panels
method(s): ◦ Sequencing, Next Gen
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany |
NPHP3 Gene Sequencing
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger)
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany |
Nephronophthisis
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger)
Cologne University, Institute of Human Genetics - Cologne, Germany |
Nephronophthisis Type 3, Sequencing NPHP3 Gene
method(s): ◦ Sequencing, Capillary (Sanger)
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Eye Diseases Panel
method(s): ◦ Sequencing, Next Gen
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Ciliopathies Panel
method(s): ◦ Sequencing, Next Gen
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Kidney Diseases Panel
method(s): ◦ Sequencing, Next Gen
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Nephronophthisis 3 (sequence analysis of NPHP3 gene)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
Meckel syndrome 7 (sequence analysis of NPHP3 gene)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
Nephronophthisis Sequencing Panel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Gedi-R, Genetic Eye Disease Panel for Retinal Genes
method(s): ◦ Sequencing, Next Gen
Ocular Genomics Institute Genetic Diagnostic Laboratory at Massachusetts Eye and Ear Infirmary - Boston, MA, USA |
Nephronophthisis
method(s): ◦ Sequencing, Next Gen
GENETAQ, Molecular Genetics Centre - Malaga, Spain |
Nephronophthisis Deletion/Duplication panel
method(s): ◦ Del/Dup (CNV)
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Meckel Syndrome , Panel Massive Sequencing (NGS) 10 Genes
method(s): ◦ Sequencing, Next Gen
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Senior Loken Syndrome Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Nephronophthisis Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Renal Dysplasia, Renal Agenesia, CAKUT Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Meckel Syndrome Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Nephronophthisis (NGS panel of 19 genes)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
Meckel syndrome (NGS panel for 11 genes)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
Ciliopathies (NGS panel for 90 genes)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
Single gene testing NPHP3
method(s): ◦ Sequencing, Capillary (Sanger)
CeGaT GmbH - Tübingen, Germany |
Eye Disorders: Comprehensive Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Eye Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
TAT: 2-4 weeks
price: $1,790.00
Joubert syndrome and related disorders NGS panel
method(s): ◦ Sequencing, Next Gen
Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks
price: $1,300.00
Joubert syndrome and related disorders NGS panel
method(s): ◦ Del/Dup (CNV)
Connective Tissue Gene Tests - Allentown, PA, USA |
Senior-Loken Syndrome: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Senior-Loken Syndrome: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Neonatal and Adult Cholestasis: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Neonatal and Adult Cholestasis: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Nephronophthisis: NPHP1, INVS, NPHP3, and NPHP4 Gene Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Nephronophthisis: NPHP1, INVS, NPHP3, and NPHP4 Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Nephronophthisis: NPHP3 Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV)
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Nephronophthisis: NPHP3 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Ciliopathies: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Ciliopathies: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Ciliopathy panel
method(s): ◦ Sequencing, Next Gen
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
TAT: 11-12 weeks
price: $2,000.00
KidneySeq - A Comprehensive Inherited Kidney Disease Panel
method(s): ◦ Sequencing, Next Gen
Iowa Institute of Human Genetcs (IIHG) - Iowa City, IA, USA |
Senior-Loken Syndrome Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Nephronophthisis: Extended Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Nephronophthisis: Extended Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Congenital Heart Defects (NextGen Sequencing Panel and Copy Number Analysis; 77 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Meckel Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 11 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
Nephronophthisis, Panel Massive Sequencing (NGS) 11 Genes
method(s): ◦ Sequencing, Next Gen
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Ciliopathies NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
Fulgent Diagnostics - Temple City, CA, USA |
Congenital Hepatic Fibrosis NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
Eye Disorders NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
Fulgent Diagnostics - Temple City, CA, USA |
Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
Joubert and Meckel NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
Nephronophthisis NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
NPHP3
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
Retinitis Pigmentosa NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
Senior-Loken Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
TAT: 2-4 weeks
price: $2,940.00
Joubert syndrome and related disorders NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Connective Tissue Gene Tests - Allentown, PA, USA |
Renal Cystic Disorders Sequencing Panel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
TAT: 3-4 weeks
price: $690.00
Nephronophthisis and Senior-Loken syndrome via the NPHP3 Gene
method(s): ◦ Del/Dup (CNV)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks
price: $1,670.00
Ciliopathy Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks
price: $1,290.00
Joubert and Meckel-Gruber Syndromes Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks
price: $1,290.00
Nephronophthisis and Senior-Loken Syndrome Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks
price: $990.00
Nephronophthisis and Senior-Loken syndrome via the NPHP3 Gene
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks
price: $2,990.00
Ciliopathy Sequencing Panel
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks
price: $1,890.00
Joubert and Meckel-Gruber Syndromes Sequencing Panel
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks
price: $1,840.00
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Cystic Disease and Nephronopthisis Gene Set
method(s): ◦ Sequencing, Next Gen
Genomics and Pathology Services, Washington University - St. Louis, MO, USA |
Meckel syndrome (Meckel Syndrom)
method(s): ◦ Sequencing, Next Gen
Praxis fuer Humangenetik Wien - Vienna, Austria |
TAT: 3-5 weeks
price: $2,390.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-4 weeks
price: $1,990.00
Comprehensive Inherited Retinal Dystrophies Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Joubert syndrome NGS panel
method(s): ◦ Sequencing, Next Gen
IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal |
Congenital Heart Disease NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
Fulgent Diagnostics - Temple City, CA, USA |
Nephronophthisis type 3
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Centogene AG, Rare Disease Company - Rostock, Germany |
Joubert Syndrome Spotlight Panel
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Senior-Loken Spotlight Panel
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Meckel-Gruber Syndrome Spotlight Panel
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen
Centogene AG, Rare Disease Company - Rostock, Germany |
TAT: 1-3 weeks
price: $1,500.00
Invitae Senior-Loken Syndrome Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV)
Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks
price: $1,500.00
Invitae Congenital Heart Defects and Heterotaxy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV)
Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks
price: $1,500.00
Invitae Ciliopathies Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV)
Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks
price: $1,500.00
Invitae Nephronophthisis Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV)
Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks
price: $1,500.00
Invitae Joubert and Meckel-Gruber Syndromes Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV)
Invitae - San Francisco, CA, USA |
Ciliopathy Focus Panel
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Joubert syndrome panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Centogene AG, Rare Disease Company - Rostock, Germany |
Meckel syndrome panel
method(s): ◦ Sequencing, Next Gen
Centogene AG, Rare Disease Company - Rostock, Germany |
Nephronophthisis panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Centogene AG, Rare Disease Company - Rostock, Germany |
Cholestasis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Ciliopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Congenital Hepatic Fibrosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Joubert Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Meckel Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Nephronophthisis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Retinal Dystrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Senior-Loken Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Cholestasis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Ciliopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Congenital Hepatic Fibrosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Joubert Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Meckel Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Nephronophthisis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Retinal Dystrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Senior-Loken Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Eye Diseases Comprehensive Panel
method(s): ◦ Sequencing, Next Gen
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia |
