SMN1

OMIMHGNC

Synonym(s): BCD541, SMNT, SMA1, SMA2, SMA3, GEMIN1, TDRD16A, SMA@, SMA

Locus: 5q13.2

Protein: Survival motor neuron protein isoform l

 

Disorders

Tests

Test Type
Molecular (87)
Multi-Gene Panel (52)
Multi-Method Panel (35)
Test Method
Del/Dup (CNV) (60)
Linkage Analysis (1)
Methylation Analysis (1)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (17)
Genotyping (Microarray, Beads, etc.) (4)
Repeat Expansion / Contraction (9)
Sequencing, Next Gen (37)
Prenatal/Carrier
Prenatal (30)
Carrier (55)
Lab Location
USA(39)
Greece(1)
Canada(11)
Germany(9)
Spain(9)
Brazil(1)
Portugal(1)
Bulgaria(1)
New Zealand(1)
Estonia(1)
Poland(4)
Turkey(4)
India(1)
Iran, Islamic Republic of(1)
Korea, Republic of(1)
Austria(1)
Finland(1)
 
Spinal Muscular Atrophy (SMN1) Deletion/Duplcation Analysis
method(s): ◦ Del/Dup (CNV) 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
TAT: 4 weeks
price: contact lab
Spinal Muscular Atrophy (SMN1) Test
method(s): ◦ Del/Dup (CNV) 
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada
Spinal Muscular Atrophy (SMN1) Test
method(s): ◦ Del/Dup (CNV) 
Children's Hospital of Eastern Ontario, Genetics Diagnostic Laboratory - Ottawa, Canada
Spinal Muscular Atrophy (SMN1) Test
method(s): ◦ Del/Dup (CNV) 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
Spinal Muscular Atrophy (SMN1) Test
method(s): ◦ Del/Dup (CNV) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
Spinal Muscular Atrophy (SMA) Test
method(s):
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
Ashkenazi Jewish Carrier Multi-Gene Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
Spinal muscular atrophy test
method(s): ◦ Del/Dup (CNV) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 2-3 weeks
price: contact lab
Spinal muscular atrophy carrier testing
method(s): ◦ Del/Dup (CNV) 
Natera, Inc. - San Carlos, CA, USA
Spinal Muscular Atrophy Test (MLPA analysis of heterozygous deletion in the SMN1 gene - carrier test)
method(s): ◦ Del/Dup (CNV) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Spinal Muscular Atrophy Test (analysis of homozygous deletion of exons 7 and 8 in the SMN1 gene analysis) - MLPA analysis
method(s): ◦ Del/Dup (CNV) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 2-3 weeks
price: contact lab
Spinal Muscular Atrophy (Deletion) Test
method(s): ◦ Del/Dup (CNV) 
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
TAT: 2-3 weeks
price: contact lab
Spinal Muscular Atrophy (Sequencing) Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
TAT: 2-3 weeks
price: contact lab
Spinal Muscular Atrophy (Dosage/Copy number) Test
method(s): ◦ Del/Dup (CNV) 
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
TAT: 3-4 weeks
price: contact lab
Spinal Muscular Atrophy
method(s): ◦ Repeat Expansion / Contraction 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
SMA Mutation Analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 3-4 weeks
price: contact lab
SMA Carrier Test
method(s): ◦ Del/Dup (CNV) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Spinal Muscular Atrophy (SMN1)
method(s): ◦ 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: 2 weeks
price: contact lab
Spinal Muscular Atrophy: SMN1 Common Deletion Testing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Spinal Muscular Atrophy
method(s): ◦ Del/Dup (CNV) 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
TAT: 4-5 weeks
price: contact lab
Deletion detection in the SMN1 gene
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Carrier heterozygous deletion detection in the SMN1 gene
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the SMN1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 4 genes: SMN1, SMN2, TRPV4, VAPB
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Detection of large deletions and/or duplications i n the SMN1 gene by MLPA
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-10 days
price: contact lab
Spinal Muscular Atrophy Type 1
method(s):
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA
TAT: 3-4 weeks
price: contact lab
SMN1 Gene Del/Dup and RFLP
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Del/Dup (CNV) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: ~2 weeks
price: contact lab
Spinal Muscular Atrophy
method(s):
GeneTech - Hyderabad, India
Spinal Muscular Atrophy , Deletions-Duplications (MLPA) SMN1 and SMN2 Genes
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Spinal muscular atrophy
method(s): ◦ Del/Dup (CNV) ◦ Linkage Analysis ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
TAT: 7-10 days
price: contact lab
Spinal Muscular Atrophy: SMN1 Linked
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, 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
Spinal Muscular Atrophy, Sequencing SMN1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-3 weeks
price: contact lab
Spinal Muscular Atrophy
method(s): ◦ Del/Dup (CNV) 
Genomic Engenharia Molecular Ltda - Sao Paulo, Brazil
Spinal Muscular Atrophy (SMN1) Test
method(s): ◦ Del/Dup (CNV) 
Quest Diagnostics- Marlborough, MA, Molecular Genetics Laboratory - Marlborough, MA, USA
Spinal Muscular Atrophy Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Spinal Muscular Atrophy
method(s): ◦ Del/Dup (CNV) 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
SMA
method(s): ◦ Mutation Scanning of Select Exons 
Parseh Pathobiology & Genetics Laboratory - Tehran, Iran, Islamic Republic of
TAT: 7-10 days
price: contact lab
Spinal Muscular Atrophy - SMA
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
Spinal Muscular Atrophy Carrier Screen
method(s): ◦ Del/Dup (CNV) 
Quest Diagnostics Nichols Institute - Virginia, Molecular Genetics Laboratory - Chantilly, VA, USA
Spinal Muscular Atrophy Diagnostic Test
method(s): ◦ Del/Dup (CNV) 
Quest Diagnostics Nichols Institute - Virginia, Molecular Genetics Laboratory - Chantilly, VA, USA
TAT: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Spinal muscular atrophy (SMA, deletion/duplication analysis of SMN1 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
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
Spinal Muscular Atrophy: Carrier Screen
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Spinal Muscular Atrophy: SMN1 Common Deletion Testing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
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
Spinal Muscular Atrophy (SMN1) Deletions/Duplications
method(s): ◦ Del/Dup (CNV) 
GMDL Genica - Sofia, Bulgaria
Ashkenazi Jewish genetic disease panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Spinal Muscular Atrophy (SMN1 Test)
method(s): ◦ Del/Dup (CNV) 
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
Inheritest NGS, Ashkenazi Jewish Ancestry Panel
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
Inheritest NGS, Society Guided Panel
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Muscular Dystrophy/Myopathy (NextGen Sequencing Panel and Copy Number Analysis; 407 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
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
TAT: 2 weeks
price: contact lab
Spinal Muscular Atrophy (SMN1/SMN2) MLPA Duplication/Deletion Analysis
method(s): ◦ Del/Dup (CNV) 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Spinal Muscular Atrophy (NextGen Sequencing Panel and Copy Number Analysis; 19 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Spinal Muscular Atrophy and related Disorders,l Panel Massive Sequencing (NGS) 19 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-3 weeks
price: contact lab
Horizon 4 (SMA, CF, Fragile X, DMD)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 27 (Pan-ethnic Standard Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 106 (Comprehensive Jewish Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 274 (Pan-Ethnic Extended Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, 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
Spinal Muscular Atrophy (SMA) Copy Number Analysis
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 2-3 weeks
price: contact lab
Horizon 137 (Pan-Ethnic Intermediate Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
Spinal muscular atrophy (Spinale Muskelatrophie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 2-4 weeks
price: contact lab
Family Prep Screen
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Counsyl, Inc., Counsyl - South San Francisco, CA, USA
TAT: ~2 weeks
price: contact lab
Spinal muscular atrophy type 3
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Spinal muscular atrophy type 4
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Spinal muscular atrophy type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Spinal muscular atrophy type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Hereditary Motor Neuropathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Comprehensive Neuromuscular Disorders Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Spinal Muscular Atrophy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Spinal Muscular Atrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Spinal Muscular Atrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 2 weeks
price: contact lab
GeneAware Ashkenazi Jewish Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware Ashkenazi Jewish Panel Version 2 (Male)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware ACMG/ACOG Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware ACMG/ACOG Panel Version 2 (Male)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware Basic Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware Basic Panel Version 2 (Male)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA