OFD1

Synonym(s): 71-7A, JBTS10, CXorf5, RP23

Locus: Xp22.2

Protein: OFD1 protein

Disorders

Tests


TAT: 4-5 weeks price: contact lab PCDNext - Primary Ciliary Dyskinesia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 8-10 weeks price: contact lab NGS X-Linked Intellectual Disability (XLID) Panel (114 genes) method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 4-5 weeks price: contact lab Oral-Facial-Digital Syndrome: OFD1 Gene Deletion/Duplication method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 8-9 weeks price: contact lab Ciliopathies: Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks price: contact lab Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks price: contact lab Joubert Syndrome: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks price: contact lab Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks price: contact lab X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks price: contact lab Oral-Facial-Digital Syndrome: OFD1 Gene Sequencing method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 7-8 weeks price: contact lab Sanger sequencing of the OFD1 gene method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 13-15 weeks price: contact lab NGS of AHI1, ARL13B, CC2D2A, CEP290, CEP41, INPP5E, KIF7, NPHP1, OFD1, RPGRIP1L, TECT1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TTC21, SF1R genes method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 8-10 weeks price: contact lab Ataxia Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks price: contact lab Joubert/Meckel Gruber syndrome Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks price: contact lab Joubert/Meckel Gruber syndrome Deletion / Duplication Panel method(s): ◦ Del/Dup (CNV) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks price: contact lab X-Linked Non-Specific ID Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks price: contact lab Non-Specific ID SequencingPanel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks price: contact lab OFD1 sequencing method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks price: contact lab OFD1 deletion/duplication method(s): ◦ Del/Dup (CNV) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 7-8 weeks price: contact lab 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
TAT: 7-8 weeks price: contact lab OFD1 Gene Sequencing method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 4-6 weeks price: contact lab epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 4-6 weeks price: contact lab devSEEK Sequence Analysis for Neurodevelopment Disorders, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 3-4 weeks price: contact lab OFD1 (CXORF5) Del/Dup method(s): ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA
TAT: 7-8 weeks price: contact lab OFD1 Remaining Exons Sequencing method(s): ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA
TAT: 5-6 weeks price: contact lab OFD1 Select Exons Sequencing method(s): ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA
TAT: contact lab price: $1,472.00 X-Linked Retinitis Pigmentosa (includes RPGR ORF15) method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: contact lab price: contact lab Joubert Syndrome Type 10, Sequencing OFD1 Gene method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: contact lab price: contact lab 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
TAT: contact lab price: contact lab Ciliopathies Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: contact lab price: contact lab Epilepsy Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: contact lab price: contact lab 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
TAT: contact lab price: contact lab Oral-facial-digital syndrome 1 (sequence analysis of OFD1 gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal
TAT: contact lab price: contact lab Joubert syndrome - 11 genes (NGS panel for AHI1, ARL13B, CC2D2A, CEP290, KIF7, INPP5E, NPHP1, OFD1, RPGRIP1L, TMEM216 and TMEM67 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
TAT: 6-8 weeks price: contact lab Macrocephaly Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: contact lab price: contact lab 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
TAT: 4-6 weeks price: contact lab Macrocephaly Deletion/Duplication panel method(s): ◦ Del/Dup (CNV) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-5 weeks price: contact lab Brain Malformations / Neuronal Migration Disorders method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks price: contact lab X-Linked Mental Retardation method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks price: contact lab Macrocephaly method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks price: contact lab Syndromic Disorders method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks price: contact lab Severe Recessive Childhood Diseases method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks price: contact lab Primary Ciliary Dyskinesia Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks price: contact lab Joubert Syndrome Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks price: contact lab Epilepsy and X-Linked Mental Retardation with Seizures Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab Joubert Syndrome, Panel Massive Sequencing (NGS) 13 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: contact lab price: contact lab Ciliopathies (NGS panel for 90 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
TAT: 2-4 weeks price: contact lab Single gene testing OFD1 method(s): ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab Oral-Facial-Digital Syndrome: OFD1 Gene Deletion/Duplication method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Oral-Facial-Digital Syndrome: OFD1 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Joubert Syndrome: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Joubert Syndrome: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Eye Disorders: Comprehensive Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Eye Disorders: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab X-linked Intellectual Disability: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab X-linked Intellectual Disability: 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
TAT: contact lab price: contact lab Retina/Photoreceptor Dystrophy: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Retina/Photoreceptor Dystrophy: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Retinitis Pigmentosa: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Retinitis Pigmentosa: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Ciliopathies: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: contact lab price: contact lab Ciliopathies: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-9 weeks price: contact lab Mental retardation, X-linked (NGS panel for 89 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
TAT: 2-3 weeks price: $990.00 Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks price: $1,250.00 Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks price: $2,130.00 Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 8-10 weeks price: contact lab Comprehensive Neurogenetics Panel (290 genes) method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 4-6 weeks price: contact lab Potentially lethal skeletal disorders Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab 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: contact lab price: contact lab Oral-Facial-Digital Syndrome Type VI method(s): ◦ Sequencing, Next Gen Hopital d'Enfants, CHU, Centre de Genetique - Dijon, France
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
TAT: 2-3 weeks price: $680.00 Orofaciodigital Syndrome I (OFD1) method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $990.00 Orofaciodigital syndrome I (OFD1) method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $1,570.00 Orofaciodigital Syndrome I (OFD1) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $680.00 Simpson-Golabi-Behmel Syndrome, Type 2 (SGBS2) method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $990.00 Simpson-Golabi-Behmel Syndrome, Type 2 (SGBS2) method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $1,570.00 Simpson-Golabi-Behmel Syndrome, Type 2 (SGBS2) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 8-10 weeks price: contact lab Neurodevelopment -Expanded method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 5-7 weeks price: contact lab IDNext - Intellectual Disability Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 2-4 weeks price: contact lab Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Comprehensive Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 502 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab 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
TAT: 2-4 weeks price: contact lab Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 734 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 577 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Joubert Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 21 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Macrocephaly and Overgrowth Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 114 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Comprehensive Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 109 genes + mtDNA) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Non-Mitochondrial Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 99 genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: contact lab price: contact lab Ciliopathies NGS Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks price: contact lab Congenital Hepatic Fibrosis NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks price: contact lab Intellectual Disability NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks price: contact lab Joubert and Meckel NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks price: contact lab Joubert Syndrome NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks price: contact lab OFD1 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks price: contact lab XLID 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
TAT: 2-4 weeks price: contact lab Oral-facial-digital Syndrome Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 3-4 weeks price: contact lab Comprehensive Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks price: contact lab Idiopathic Generalized Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Fulgent Diagnostics - Temple City, CA, USA
TAT: 7-8 weeks price: contact lab Renal Cystic Disorders Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: contact lab price: contact lab Orofaciodigital Syndrome Type I, Sequencing OFD1 Gene method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks price: $690.00 OFD1-Related Disorders via the OFD1 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 Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis 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: $1,670.00 Retinitis Pigmentosa 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: $1,670.00 X-Linked Intellectual Disability 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: $840.00 X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia 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 OFD1-Related Disorders via the OFD1 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: $1,990.00 Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks price: $2,890.00 Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks price: $2,940.00 X-Linked Intellectual Disability Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks price: $1,740.00 X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks price: $1,990.00 Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks price: $1,290.00 Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: contact lab price: contact lab Retinitis pigmentosa (Retinitis pigmentosa) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: contact lab price: contact lab Joubert syndrome (Joubert Syndrom) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: contact lab price: contact lab Simpson-Golabi-Behmel syndrome (Simpson-Golabi-Behmel Syndrom) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 8-10 weeks price: contact lab Joubert Syndrome method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 8-10 weeks price: contact lab Progressive and non-progressive ataxia method(s): ◦ Sequencing, Next Gen Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 2-4 weeks price: contact lab Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel, Copy Number Analysis; 330 Genes + mtDNA + HTT Repeat Expansion Analysis) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
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
TAT: contact lab price: contact lab 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
TAT: 2-3 weeks price: contact lab Congenital Heart Disease NGS Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks price: contact lab Joubert syndrome type 10 method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks price: contact lab Oral-facial-digital syndrome type 1 method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks price: contact lab Retinitis pigmentosa type 23 X-linked method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-6 weeks price: contact lab Joubert Syndrome Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 2-4 weeks price: contact lab Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and HTT Repeat Expansion Analysis) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + FRDA Repeat Expansion Analysis) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-6 weeks price: contact lab Primary Ciliary Dyskinesia Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 4-6 weeks price: contact lab Primary Ciliary Dyskinesia with CFTR Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 2-4 weeks price: contact lab Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and FRDA Repeat Expansion Analysis) method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: contact lab price: contact lab Brain malformations method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 1-3 weeks price: $1,500.00 Invitae Primary Ciliary Dyskinesia 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 Oral-Facial-Digital Syndrome Type 1 Test 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
TAT: 4-6 weeks price: contact lab Ciliopathy Focus Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 4-5 weeks price: contact lab Joubert syndrome panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks price: contact lab Mental retardation, X-linked panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks price: contact lab X-linked Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 103 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Microcephaly (NextGen Sequencing Panel and Copy Number Analysis; 241 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks price: contact lab Hydrocephalus (NextGen Sequencing Panel and Copy Number Analysis; 68 Genes) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 3-4 weeks price: contact lab Ataxia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Ciliopathy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Complement System Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Comprehensive Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Congenital Hepatic Fibrosis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Epilepsy and X-linked Mental Retardation Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Joubert Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Macrocephaly / Overgrowth Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Primary Ciliary Dyskinesia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Primary Immunodeficiency Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Retinal Dystrophy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Retinitis Pigmentosa Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab X-linked Mental Retardation Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Ataxia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Ciliopathy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Complement System Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Comprehensive Epilepsy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Congenital Hepatic Fibrosis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Epilepsy and X-linked Mental Retardation Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Joubert Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Macrocephaly / Overgrowth Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Primary Ciliary Dyskinesia Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Primary Immunodeficiency Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Retinal Dystrophy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab Retinitis Pigmentosa Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks price: contact lab X-linked Mental Retardation Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: contact lab price: contact lab Eye Diseases Comprehensive Panel method(s): ◦ Sequencing, Next Gen Asper Biotech Ltd., Asper Biotech - Tartu, Estonia

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