SNRPN

OMIMHGNC

Synonym(s): SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI, PWCR

Locus: 15q11.2

Protein: Small nuclear ribonucleoprotein-associated protein N

 

Disorders

Tests

Test Type
Molecular (40)
Multi-Gene Panel (13)
Multi-Method Panel (11)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (1)
Del/Dup (CNV) (12)
Methylation Analysis (24)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (7)
Repeat Expansion / Contraction (1)
Uniparental Disomy (5)
Sequencing, Next Gen (9)
Prenatal/Carrier
Prenatal (5)
Carrier (14)
Lab Location
Netherlands(1)
USA(21)
Poland(4)
Portugal(1)
Singapore(1)
Korea, Republic of(1)
Germany(4)
Canada(3)
United Kingdom(2)
Austria(1)
Spain(1)
 
TAT: 4-8 weeks
price: $635.00
Analysis Methylation status SNRPN gene promoter (Prader-Willi Syndrome or Angelman Syndrome)
method(s): ◦ Methylation Analysis 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Angelman Syndrome Methylation Test
method(s): ◦ Methylation Analysis 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Prader-Willi Syndrome Test
method(s): ◦ Methylation Analysis 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Prader-Willi Syndrome Test
method(s): ◦ Uniparental Disomy 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
TAT: 1-2 weeks
price: contact lab
Angelman Syndrome by methylation PCR
method(s): ◦ Methylation Analysis 
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA
TAT: 1-2 weeks
price: contact lab
Prader-Willi Syndrome by methylation PCR
method(s): ◦ Methylation Analysis 
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA
TAT: 1 week
price: contact lab
Prader Willi/Angelman syndrome MS-PCR
method(s): ◦ Methylation Analysis 
Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospital - Singapore, Singapore
Angelman Syndrome Test
method(s): ◦ Methylation Analysis 
Quest Diagnostics Nichols Institute - Virginia, Molecular Genetics Laboratory - Chantilly, VA, USA
Prader-Willi Syndrome Test
method(s): ◦ Methylation Analysis 
Quest Diagnostics Nichols Institute - Virginia, Molecular Genetics Laboratory - Chantilly, VA, USA
Angelman Syndrome Test
method(s): ◦ Methylation Analysis 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
Autism Spectrum Disorders Test
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Microarray (CGH-Oligo, SNP, BAC) ◦ Mutation Scanning of Entire Coding Region ◦ Repeat Expansion / Contraction ◦ Sequencing, Capillary (Sanger) 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
Angelman Syndrome Test (DNA methylation test - an analysis of the SNRPN locus)
method(s): ◦ Methylation Analysis 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 5-6 weeks
price: contact lab
Autism Spectrum Disorders Panel Test
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
Prader Willi/Angelman syndrome test
method(s): ◦ Methylation Analysis 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 3 weeks
price: contact lab
Prader-Willi/Angelman Syndrome Genetic Testing
method(s): ◦ Methylation Analysis 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 6-8 weeks
price: contact lab
Angelman Syndrome Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 4-6 weeks
price: contact lab
Angelman Syndrome Methylation Sensitive PCR
method(s): ◦ Methylation Analysis 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 4-6 weeks
price: contact lab
Prader-Willi Syndrome Methylation Sensitive PCR
method(s): ◦ Methylation Analysis 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
Prader-Willi Syndrome
method(s): ◦ Methylation Analysis ◦ Del/Dup (CNV) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 3-4 weeks
price: contact lab
Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Angelman Syndrome
method(s): ◦ Uniparental Disomy 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
TAT: 4-6 weeks
price: contact lab
Prader-Willi Syndrome
method(s): ◦ Uniparental Disomy 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
TAT: 1-2 weeks
price: contact lab
Prader Willi
method(s): ◦ Del/Dup (CNV) 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
Prader-Willi Syndrome Test (DNA methylation test-the SNRPN locus analysis)
method(s): ◦ Methylation Analysis 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Autism Spectrum Disorder Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Comprehensive Panel: Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Angelman Syndrome
method(s): ◦ Methylation Analysis 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
Prader Willi syndrome
method(s): ◦ Methylation Analysis 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
TAT: 1-3 weeks
price: contact lab
Angelman Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 1-3 weeks
price: contact lab
Prader-Willi Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Uniparental Disomy 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 2-3 weeks
price: contact lab
Angelman Syndrome, Methylation and Deletion/Duplication
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis 
Oregon Health & Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
Prader-Willi syndrome (sequence analysis of SNRPN gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 4-6 Weeks
price: contact lab
Autism 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
SNRPN
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: $540.00
Prader-Willi Syndrome by MS-MLPA
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Prader-Willi syndrome (Prader-Willi Syndrom)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
Prader-Willi syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
Autism Spectrum Disorders (Expanded Panel), Panel Massive Sequencing (NGS) 100 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain