NSDHL

Synonym(s): XAP104, H105e3, SDR31E1

Locus: Xq28

Protein: Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

Disorders

Tests


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: 2-3 weeks price: $1,150.00 Skeletal Dysplasia extended NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $1,300.00 Skeletal Dysplasia core and extended NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-5 weeks price: contact lab NSDHL-related Disorders: NSDHL Gene Deletion/Duplication 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 NSDHL-related Disorders: NSDHL Gene Sequencing method(s): Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4 weeks price: contact lab NSDHL sequencing method(s): ◦ Sequencing, Capillary (Sanger) University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks price: contact lab NSDHL deletion/duplication 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: 4-6 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: 2-4 weeks price: $1,840.00 Skeletal Dysplasia core and extended NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks price: $1,490.00 Skeletal Dysplasia extended NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: contact lab price: contact lab CHILD Syndrome , Sequencing NSDHL Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: contact lab price: contact lab Skin 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 NSDHL method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany
TAT: contact lab price: contact lab CHILD syndrome (sequence analysis of NSDHL gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal
TAT: 2-4 weeks price: $1,490.00 Skeletal Dysplasia Extended NGS Panel Comprehensive Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks price: $1,370.00 Chondrodysplasia punctata and related disorders NGS panel method(s): ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks price: $990.00 Chondrodysplasia punctata and related disorders NGS panel method(s): ◦ Del/Dup (CNV) Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-5 weeks price: contact lab Polymicrogyria method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
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 Syndromic Disorders method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks price: contact lab Ichthyoses and Related Disorders of Cornification Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: contact lab price: contact lab Skeletal dysplasia (NGS panel for 31 genes) method(s): ◦ Sequencing, Next Gen CGC Genetics - Porto, Portugal
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: contact lab price: contact lab NSDHL-related Disorders: NSDHL Gene Deletion/Duplication 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: 8-9 weeks price: contact lab CK syndrome (sequence analysis of NSDHL gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal
TAT: 2-4 weeks price: $2,210.00 Chondrodysplasia punctata and related disorders NGS panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks price: contact lab Chondrodysplasia punctata Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks price: contact lab Potentially lethal skeletal disorders Panel method(s): ◦ Sequencing, Next Gen CeGaT GmbH - Tübingen, Germany
TAT: 8-10 weeks price: contact lab Epilepsy Exome Panel method(s): ◦ Sequencing, Next Gen University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: contact lab price: contact lab Skeletal Dysplasias, Panel Massive Sequencing (NGS) 36 Genes method(s): ◦ Sequencing, Next Gen Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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 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: 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 NSDHL 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: $2,990.00 Skeletal Dysplasia core and extended NGS panel Comprehensive Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks price: $690.00 NSDHL-Related Disorders via the NSDHL 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: 2-3 weeks price: $610.00 NSDHL-Related Disorders via the NSDHL Gene method(s): ◦ Sequencing, Capillary (Sanger) 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: ~2 weeks price: contact lab CHILD syndrome method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks price: contact lab CK syndrome method(s): ◦ Sequencing, Capillary (Sanger) Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks price: contact lab CentoICU Platinum method(s): ◦ Sequencing, Next Gen Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks price: $1,500.00 Invitae NSDHL-Related Disorders Test method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) Invitae - San Francisco, CA, USA
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: 4-5 weeks price: contact lab Skeletal dysplasia extended 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: 3-4 weeks price: contact lab Chondrodysplasia Punctata 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 Neuronal Migration Disorder Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Polymicrogyria 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 Comprehensive Skeletal Dysplasias and Disorders Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks price: contact lab Chondrodysplasia Punctata 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 Neuronal Migration 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 Polymicrogyria 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: 3-4 weeks price: contact lab Comprehensive Skeletal Dysplasias and Disorders Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA

GeneTests

NSDHL

Disorders

Tests

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Test Method

Prenatal/Carrier

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