NGS X-Linked Intellectual Disability (XLID) Panel (114 genes)
method(s): ◦ Sequencing, Next Gen
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA |
LOWE syndrome test
method(s): ◦ Sequencing, Capillary (Sanger)
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of |
Phosphatidylinositol Bisphosphate Phosphatase-A
method(s): ◦ Quantitative Biochemical Analysis
Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Phosphatidylinositol Bisphosphate Phosphatase-F
method(s): ◦ Quantitative Biochemical Analysis
Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Lowe Syndrome
method(s): ◦ Sequencing, Capillary (Sanger)
Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Lowe Syndrome Prenatal
method(s): ◦ Sequencing, Capillary (Sanger)
Baylor Miraca Genetics Laboratories - Houston, TX, USA |
Lowe Syndrome-KFM
method(s): ◦ Sequencing, Capillary (Sanger)
Baylor Miraca Genetics Laboratories - Houston, TX, USA |
OCRL1 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger)
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany |
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Lowe Syndrome: OCRL Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Lowe Syndrome: OCRL Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA |
Sanger sequencing of the OCRL1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger)
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
X-Linked Non-Specific ID Sequencing Panel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
Non-Specific ID SequencingPanel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
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 |
OCRL Del/Dup (Females)
method(s): ◦ Del/Dup (CNV)
GeneDx - Gaithersburg, MD, USA |
OCRL Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger)
GeneDx - Gaithersburg, MD, USA |
Dent Disease Type 2, Sequencing OCRL Gene
method(s): ◦ Sequencing, Capillary (Sanger)
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Lowe Syndrome, Sequencing OCRL 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 |
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 |
Lowe syndrome (sequence analysis of OCRL gene)
method(s): ◦ Sequencing, Capillary (Sanger)
CGC Genetics - Porto, Portugal |
Dent Disease: sequencing of CLCN5 and OCRL genes
method(s): ◦ Sequencing, Capillary (Sanger)
GENETAQ, Molecular Genetics Centre - Malaga, Spain |
TAT: 2-4 weeks
price: $1,370.00
Abnormal Mineralization Disorders NGS panel
method(s): ◦ Sequencing, Next Gen
Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-3 weeks
price: $1,150.00
Abnormal Mineralization Disorders NGS panel
method(s): ◦ Del/Dup (CNV)
Connective Tissue Gene Tests - Allentown, PA, USA |
TAT: 2-4 weeks
price: $2,370.00
Abnormal Mineralization Disorders NGS Panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Connective Tissue Gene Tests - Allentown, PA, USA |
Microphthalmia-Anophthalmia-Coloboma Complex (MAC)
method(s): ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
X-Linked Mental Retardation
method(s): ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Syndromic Disorders
method(s): ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
Hypophosphatemic Rickets Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
Leukodystrophy / Leukencephalopathy and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen
CeGaT GmbH - Tübingen, Germany |
X-linked Intellectual Disability: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
X-linked Intellectual Disability: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Single gene testing OCRL
method(s): ◦ Sequencing, Capillary (Sanger)
CeGaT GmbH - Tübingen, Germany |
Lowe Syndrome: OCRL Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV)
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Lowe Syndrome: OCRL Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada |
Mental retardation, X-linked (NGS panel for 89 genes)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
OCRL Sequencing
method(s): ◦ Sequencing, Capillary (Sanger)
GMDL Genica - Sofia, Bulgaria |
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA |
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 |
Neurodevelopment -Expanded
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA |
IDNext - Intellectual Disability Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA |
Lowe Oculocerebrorenal Syndrome
method(s): ◦ Genotyping (Microarray, Beads, etc.)
Recombine - Livingston, NJ, USA |
Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 431 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, 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 |
Fetal Akinesia, Arthrogryposis, or Contractures (NextGen Sequencing Panel and Copy Number Analysis; 153 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
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 |
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 |
OCRL
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
XLID NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
Motor Neuron Disorder and Related Diseases, Panel Massive Sequencing (NGS) 49 Genes
method(s): ◦ Sequencing, Next Gen
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Lowe Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA |
TAT: 3-4 weeks
price: $690.00
Oculocerebrorenal Syndrome of Lowe (Lowe syndrome) and Dent Disease - 2 via the OCRL 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
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: 3-5 weeks
price: $990.00
Oculocerebrorenal Syndrome of Lowe (Lowe syndrome) and Dent Disease - 2 via the OCRL Gene
method(s): ◦ Sequencing, Next Gen
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 3-5 weeks
price: $1,440.00
Dent Disease 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: $1,940.00
Nephrolithiasis and Nephrocalcinosis 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
Nephrolithiasis and Nephrocalcinosis Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
Abnormal Mineralization, Panel Massive Sequencing (NGS) 28 Genes
method(s): ◦ Sequencing, Next Gen
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
Dent disease type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Centogene AG, Rare Disease Company - Rostock, Germany |
Lowe oculocerebrorenal syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Centogene AG, Rare Disease Company - Rostock, Germany |
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen
Centogene AG, Rare Disease Company - Rostock, Germany |
Bone Disorder/O.I. Focus Panel
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
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 |
Mental retardation, X-linked 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 |
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 |
Cataract 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 |
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Osteogenesis Imperfecta Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
X-linked Mental Retardation Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, Helsinki - Helsinki, Finland |
Cataract 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 |
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
Osteogenesis Imperfecta Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
X-linked Mental Retardation Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Blueprint Genetics, San Francisco - San Francisco, CA, USA |
GeneAware Complete Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
Baylor Miraca Genetics Laboratories - Houston, TX, USA |
