PAX6

OMIMHGNC

Synonym(s): D11S812E, AN, WAGR, AN2

Locus: 11p13

Protein: Paired box protein Pax-6

 

Disorders

Tests

Test Type
Molecular (134)
Cytogenetic (1)
Multi-Gene Panel (90)
Multi-Method Panel (60)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (1)
Del/Dup (CNV) (66)
FISH-Metaphase (1)
Mutation Scanning of Entire Coding Region (4)
Sequencing, Capillary (Sanger) (41)
Genotyping (Microarray, Beads, etc.) (1)
Repeat Expansion / Contraction (6)
Sequencing, Next Gen (82)
Prenatal/Carrier
Prenatal (52)
Carrier (61)
Lab Location
USA(51)
Denmark(2)
Canada(10)
Netherlands(1)
Germany(26)
Poland(4)
Turkey(1)
Spain(15)
Estonia(5)
Portugal(7)
Austria(6)
Finland(7)
 
TAT: 4-8 weeks
price: $940.00
Analysis PAX6 gene (Aniridia)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 2-4 weeks
price: $650.00
Septooptic Dysplasia Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Molecular Vision Laboratory - Portland, OR, USA
TAT: contact lab
price: $450.00
Septooptic Dysplasia Test
method(s): ◦ Del/Dup (CNV) 
Molecular Vision Laboratory - Portland, OR, USA
Isolated Aniridia Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
Isolated Aniridia Test
method(s): ◦ Del/Dup (CNV) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
Aniridia Test (microdeletions of the 11p13 region - MLPA analysis)
method(s): ◦ Del/Dup (CNV) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Aniridia and Other Eye Malformations Test (the PAX6 gene - entire)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
FISH-WAGR Syndrome
method(s): ◦ FISH-Metaphase 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2-3 weeks
price: contact lab
PAX6 Gene Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 3-4 weeks
price: contact lab
PAX6 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 4-5 weeks
price: contact lab
PAX6-related Disorders: PAX6 Gene Deletion/Duplication
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 12-13 weeks
price: contact lab
Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 6-7 weeks
price: contact lab
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 6-7 weeks
price: contact lab
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 4-5 weeks
price: contact lab
PAX6-related Disorders: PAX6 Gene Sequencing
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 7-8 weeks
price: contact lab
Sanger sequencing and MLPA of the PAX6 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
Sanger sequencing of the PAX6 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 5 genes: FMR1, KCNJ10, PAX6, PRPS1, SLC9A6
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 12-13 weeks
price: contact lab
NGS of 55 genes: SOD1, TARDBP, TMEM67, VAPB, VLDLR. ABCB7, ABHD12, ADCK3, ALS2, ANG, ATCAY, ATM, ATR, CA8, CEP290, C10orf2, COQ2, COQ9, CYP27A1, DNAJC19, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FIG4, FLVCR1, FMR1, FUS, GJC2, GPR56, HSPD1, ITM2B, KCNJ10, K
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4 weeks
price: contact lab
PAX6sequencing
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks
price: contact lab
PAX6 deletion/duplication
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
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: 3-4 weeks
price: contact lab
PAX6 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 8-10 weeks
price: contact lab
PAX6 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 8-10 weeks
price: contact lab
PAX6 Gene Sequencing and Del/Dup Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: contact lab
price: $883.00
Aniridia
method(s): ◦ Sequencing, Capillary (Sanger) 
Asper Biogene LLC - Tartu, Estonia
Aniridia, Sequencing PAX6 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Aniridia / WAGR syndrome
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
Aniridia , Deletions-Duplications (MLPA) PAX6 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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
Neurodegenerative Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Aniridia (deletion/duplication analysis of PAX6 gene)
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Aniridia (sequence analysis of PAX6 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Peters anomaly (sequence analysis of PAX6 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
PAX6
method(s): ◦ Sequencing, Next Gen 
Amplexa Genetics A/S, Amplexa Genetics, Amplexa - Odense C, Denmark
TAT: 2-4 weeks
price: contact lab
Brain Malformation Panel
method(s): ◦ Sequencing, Next Gen 
Amplexa Genetics A/S, Amplexa Genetics, Amplexa - Odense C, Denmark
Aniridia: PAX6 gene deletions-duplications analysis (MLPA)
method(s): ◦ Del/Dup (CNV) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Permanent Neonatal Diabetes Mellitus, Panel Massive Sequencing (NGS) 17 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Glaucoma, Panel Massive Sequencing (NGS) 19 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Gedi-O, Genetic Eye Disease Panel for Optic Neuropathy and Early onset Glaucoma
method(s): ◦ Sequencing, Next Gen 
Ocular Genomics Institute Genetic Diagnostic Laboratory at Massachusetts Eye and Ear Infirmary - Boston, MA, USA
Glaucoma
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 7-8 weeks
price: contact lab
Cataract
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome
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: 3-5 weeks
price: contact lab
Foveal Hypoplasia and Presenile Cataract Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Isolated Aniridia Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
PAX6-Related Anophthalmia Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Peters Anomaly Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Cataract Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Ataxia and Differential Diagnoses Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 3-4 weeks
price: contact lab
WT1 and PAX6 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Cataracts (NGS panel of 41 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Coloboma of optic nerve (sequence analysis of PAX6 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Septo-Optic Dysplasia, Panel Massive Sequencing (NGS) 9 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Foveal Hypoplasia and Presenile Cataract Syndrome Type 1, Sequencing PAX6 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: contact lab
Single gene testing PAX6
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Achromatopsia, Cone, and Cone-Rod Dystrophy: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Achromatopsia, Cone, and Cone-Rod Dystrophy: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
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
PAX6-related Disorders: PAX6 Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
PAX6-related Disorders: PAX6 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Retina/Photoreceptor Dystrophy: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Retina/Photoreceptor Dystrophy: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-9 weeks
price: contact lab
Diabetes mellitus permanent neonatal (NGS panel for 13 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 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; 554 Genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Eye Disorders 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
Glaucoma 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: 4-5 Weeks
price: contact lab
PAX6
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Septo-optic Dysplasia NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Optic nerve hypoplasia (deletion/duplication analysis on PAX6 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
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: 1-2 weeks
price: $560.00
KaryoNIM 180K Autism
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain
TAT: 3-4 weeks
price: $690.00
Aniridia via The PAX6 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Axenfeld-Rieger Syndrome 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
Congenital Cataracts 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
Glaucoma Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $910.00
Aniridia via The PAX6 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,790.00
Axenfeld-Rieger Syndrome 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
Congenital Cataracts Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,940.00
Glaucoma Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Aniridia (Aniridie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Anterior segment dysgenesis (Anterior Segment Dysgenesis)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Foveal hyperplasia (Foveale Hypoplasie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Glaucoma (Glaukom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Coloboma (Kolobom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Peters anomaly (Peters Anomalie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
Aniridia
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Peters anomaly
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Coloboma of optic nerve
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks
price: contact lab
Anterior Segment Dysgenesis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Molecular Vision Laboratory - Portland, OR, USA
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 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: ~2 weeks
price: contact lab
Coloboma, ocular, autosomal dominant
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Foveal hypoplasia type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 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
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
method(s): ◦ Sequencing, Next Gen 
Asper Biogene LLC - Tartu, Estonia
Cataract
method(s): ◦ Sequencing, Next Gen 
Asper Biogene LLC - Tartu, Estonia
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 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: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 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: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
Anterior Segment Dysgenesis (Peters Anomaly), Panel Massive Sequencing (NGS) 7 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 7-8 weeks
price: contact lab
Glaucoma panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
Congenital Cataracts, Panel Massive Sequencing (NGS) 40 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 1-3 weeks
price: $1,500.00
Invitae Congenital Cataracts Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae WAGR Syndrome Test
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Aniridia Test
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
Glaucoma
method(s): ◦ Sequencing, Next Gen 
Asper Biogene LLC - Tartu, Estonia
TAT: 7-8 weeks
price: contact lab
Microphthalmia/anophthalmia/coloboma spectrum panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 7-8 weeks
price: contact lab
Neuronal migration disorders panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
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
Cataract 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
Glaucoma Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Neuro-Ophthalmology Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Septo-Optic Dysplasia 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
Cataract 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
Glaucoma Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Neuro-Ophthalmology Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Septo-Optic Dysplasia 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 Biogene LLC - Tartu, Estonia
TAT: 3-5 weeks
price: $1,390.00
Septo-optic Dysplasia Spectrum Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Septo-optic Dysplasia Spectrum Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 Genes + mtDNA + SCA Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 8-10 weeks
price: contact lab
Optic Atrophy and Early Glaucoma Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 2 weeks
price: contact lab
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
Hereditary Kidney Disorders - different panels
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Cologne University, Institute of Human Genetics - Cologne, Germany
Mental Retardation - different panels
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Cologne University, Institute of Human Genetics - Cologne, Germany