Septooptic Dysplasia Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany |
SHH-Related Holoprosencephaly Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany |
SHH-related Holoprosencephaly test method(s): ◦ Sequencing, Capillary (Sanger) Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of |
Epilepsy and Seizure Disorders: Sequencing and Deletion/Duplication Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Skeletal Dysplasia: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Limb Malformation: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Neurology: Sequencing Panel method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Sanger sequencing of the SHH gene method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
Sanger sequencing of the SHH and SIX3 genes method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Holoprosencephaly Panel and Del/Dup method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA |
Prenatal Holoprosencephaly Panel and Del/Dup method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
SHH Del/Dup method(s): ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
Holoprosencephaly Type 3 , Sequencing SHH Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Holoprosencephaly, Sequencing (SHH,ZIC2,SIX3,TGIF1) Genes method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Holoprosencephaly Panel, Nonsyndromic, Sequencing and Deletion/Duplication, 11 Genes method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA |
Brain Development Disorders Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Epilepsy Panel method(s): ◦ Sequencing, Next Gen Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland |
Holoprosencephaly (sequence analysis of SHH gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal |
Holoprosencephaly (deletions/ duplications on SHH gene) method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) CGC Genetics - Porto, Portugal |
Holoprosencephaly (deletion/duplication analysis on PTCH, SHH, ZIC2, SIX3, TGIF, TMEM1 and FBXW11 genes) method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) CGC Genetics - Porto, Portugal |
SHH method(s): ◦ Sequencing, Next Gen Amplexa Genetics A/S, Amplexa Genetics, Amplexa - Odense C, Denmark |
Holoprosencephaly Sequencing Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Brain Malformation Panel method(s): ◦ Sequencing, Next Gen Amplexa Genetics A/S, Amplexa Genetics, Amplexa - Odense C, Denmark |
Holoprosencephaly Type 3, Deletions-Duplications (MLPA) SHH Gene method(s): ◦ Del/Dup (CNV) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
NGS Epilepsy / Seizures Panel method(s): ◦ Sequencing, Next Gen Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
Holoprosencephaly 3: SHH gene sequence analysis method(s): ◦ Sequencing, Capillary (Sanger) GENETAQ, Molecular Genetics Centre - Malaga, Spain |
Holoprosencephaly Deletion/Duplication panel method(s): ◦ Del/Dup (CNV) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Neuronal Migration Disorders Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Holoprosencephaly Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Holoprosencephaly Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
Microphthalmia Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany |
CNS Tumor Gene Set method(s): ◦ Sequencing, Next Gen Genomics and Pathology Services, Washington University - St. Louis, MO, USA |
Holoprosencephaly (NGS panel of 9 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal |
Single gene testing SHH method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) CeGaT GmbH - Tübingen, Germany |
Epilepsy and Seizure Disorders: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Epilepsy and Seizure Disorders: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Limb Malformation: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Limb Malformation: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Skeletal Dysplasia: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Skeletal Dysplasia: Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Neurology: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Neurology: 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 |
Solitary Median Maxillary Central Incisor Syndrome, Sequencing SHH Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Epilepsy Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
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 |
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 |
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 |
Schizencephaly, Panel Massive Sequencing (NGS) 4 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Holoproscencephaly NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
SHH method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Skeletal Dysplasias NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
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: $690.00
Holoprosencephaly-3 (Autosomal Dominant Nonsyndromic) via the SHH Gene 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
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, 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: $670.00
Holoprosencephaly-3 (Autosomal Dominant Nonsyndromic) via the SHH Gene method(s): ◦ Sequencing, Capillary (Sanger) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks price: $1,540.00
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Coloboma (Kolobom) method(s): ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Holoprosencephaly (Holoprosenzephalie) method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Praxis fuer Humangenetik Wien - Vienna, Austria |
Microphthalmia NGS panel method(s): ◦ Sequencing, Next Gen IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal |
Holoprosencephaly type 3 method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
Holoprosencephaly, NGS panel method(s): ◦ Sequencing, Next Gen IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal |
Brain Malformation Seizures Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
Holoprosencephaly Spotlight Panel method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Microphthalmia/Anophthalmia Disorders Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
TAT: 1-3 weeks price: $1,500.00
Invitae Holoprosencephaly Panel method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA |
Holoprosencephaly 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 |
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 |
Comprehensive Short Stature Syndrome 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, Helsinki - Helsinki, Finland |
Holoprosencephaly 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 |
Comprehensive Short Stature Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Comprehensive Skeletal / Malformation Syndrome Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Holoprosencephaly 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 |