Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Congenital anomalies of kidney and urinary tract (CAKUT) Multi-Gene Panels method(s): ◦ Sequencing, Next Gen Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany |
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 |
TAT: 2-4 weeks price: $1,800.00
Craniosynostosis NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks price: $1,300.00
Craniosynostosis NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA |
Microphthalmia 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 |
Craniosynostosis (NGS panel for 30 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Trigonocephaly 2 (sequence analysis of FREM1 gene) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
BNAR Syndrome, Sequencing FREM1 Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
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 |
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 |
Microphthalmia (NGS panel for 26 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Craniosynostosis syndromes Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
FREM1 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
TAT: 2-4 weeks price: $2,950.00
Craniosynostosis NGS panel Comprehensive Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA |
MOTA syndrome (sequence analysis of FREM1 gene) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
TAT: 2-3 weeks price: $250.00
Manitoba Oculotrichoanal Syndrome (MOTA) via the FREM1 Exon 8–23 Deletion method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $2,690.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $1,490.00
Fraser Syndrome Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Craniosynostosis NGS panel method(s): ◦ Sequencing, Next Gen IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal |
Microphthalmia NGS panel method(s): ◦ Sequencing, Next Gen IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal |
Single gene testing FREM1 method(s): ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany |
Bifid nose method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
Craniosynostosis and craniofacial disorders panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Microphthalmia/anophthalmia/coloboma spectrum panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany |
Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Craniosynostosis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Renal Malformation Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Craniosynostosis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Renal Malformation 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 |