NPC1

OMIMHGNC

Locus: 18q11.2

Protein: Niemann-Pick C1 protein

 

Disorders

Tests

Test Type
Molecular (75)
Panel (46)
Test Method
Del/Dup (CNV) (19)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (26)
Genotyping (Microarray, Beads, etc.) (2)
Uniparental Disomy (1)
Sequencing, Next Gen (45)
Chromosome Analysis (1)
Prenatal/Carrier
Prenatal (23)
Carrier (36)
Lab Location
USA(35)
Netherlands(1)
Czech Republic(1)
Turkey(1)
Spain(3)
Portugal(4)
Germany(10)
Canada(13)
Bulgaria(2)
Korea, Republic of(1)
Poland(4)
 
TAT: 4-8 weeks
price: $1,240.00
Analysis NPC1 gene (Niemann-Pick Disease, type C)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Niemann-Pick Disease Type C1 (NPC1)Test
method(s): ◦ Sequencing, Capillary (Sanger) 
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
Niemann-Pick disease typeC test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 4-5 weeks
price: contact lab
Niemann-Pick Disease Type C, NPC1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Niemann-Pick Disease Type C, NPC1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Niemann-Pick Disease Type C, NPC1 Prenatal Sequenc
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Niemann-Pick Genetic Test (NPC1 Gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 4-5 weeks
price: contact lab
Niemann-Pick Disease Type C: NPC1 and NPC2 Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Lysosomal Storage Disorders: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 3-4 weeks
price: contact lab
Neonatal and Adult Cholestasis: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Niemann-Pick Disease Type C: NPC1 and NPC2 Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Niemann-Pick Type C, Full Gene Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 7-8 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 4-6 weeks
price: contact lab
devACT Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 3-4 weeks
price: contact lab
NPC1 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks
price: contact lab
NPC1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks
price: contact lab
NPC1/NPC2 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 7-10 days
price: contact lab
Niemann-Pick Disease: Type C1
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
Niemann-Pick Disease Type C1 , Sequencing NPC1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 10-12 weeks
price: contact lab
Metabolic Storage Disorders Panel Sequencing, 51 Genes
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
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
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
Metabolic Diseases 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
Niemann-Pick disease type C1 (sequence analysis of NPC1 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Niemann-Pick Disease Type C1, Deletions-Duplications (MLPA) NPC1 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 4-6 weeks
price: contact lab
LysoSEEK - Lysosomal Storage Disease Panel
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 2-3 days
price: contact lab
Baby Genes Newborn Screening Panel
method(s): ◦ Chromosome Analysis ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
Baby Genes Inc - Golden, CO, USA
TAT: 8-10 weeks
price: contact lab
NGS Lysosomal Storage Disease Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 3-5 weeks
price: contact lab
Epileptic Encephalopathy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Progressive Myoclonic Epilepsy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Epilepsy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-5 weeks
price: contact lab
Epilepsy and Mitochondrial Encephalopathy
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
Lysosomal Disorders Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Hereditary Degenerative Syndromes Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Dystonia All Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Ataxia and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
Niemann-Pick disease (sequence analysis of NPC1 and NPC2 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Niemann-Pick disease (deletion/duplication analysis of NPC1, NPC2 and SMPD genes)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
Single gene testing NPC1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Inherited Metabolic Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Inherited Metabolic Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Targeted Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Neonatal and Adult Cholestasis: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Neonatal and Adult Cholestasis: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Niemann-Pick Disease Type C: NPC1 and NPC2 Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Niemann-Pick Disease Type C: NPC1 and NPC2 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Lysosomal Storage Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Lysosomal Storage Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-9 weeks
price: contact lab
Dystonia (NGS panel for 43 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-8 weeks
price: $1,300.00
Comprehensive Neurogenetics Panel (359 genes)
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
NPC1 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GMDL Genica - Sofia, Bulgaria
NPC1 and NPC2 Deletions/Duplications
method(s): ◦ Del/Dup (CNV) 
GMDL Genica - Sofia, Bulgaria
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Niemann-Pick Disease Type C, NPC1-Related (NPC1)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
Pan-Ethnic Carrier Screen: Mutation and SMA Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Storage and Energetic Metabolism Diseases, Panel Massive Sequencing (NGS) 84 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 7-8 weeks
price: $1,995.00
Comprehensive Dementia NextGen DNA Screening Panel (97 genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $2,195.00
Comprehensive Dementia NextGen DNA Screening Panel (97 genes) + C9orf72 Repeat Expansion
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $1,995.00
Parkinson disease/Parkinsonism NextGen DNA Screening Panel (89 genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $1,320.00
Lysosomal Disease NextGen DNA Sequencing Panel (74 Genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 3-5 weeks
price: $690.00
Niemann-Pick Disease Type C via the NPC1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $1,120.00
Niemann-Pick Disease Type C via the NPC1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $1,500.00
Invitae Niemann-Pick Type C Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 4-6 Weeks
price: contact lab
Epilepsy 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: 4-6 Weeks
price: contact lab
Lysosomal Disorders 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
NPC1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 weeks
price: $1,440.00
Niemann-Pick Disease Type C NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $730.00
Niemann-Pick Disease Type C Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA

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