SMN2

OMIMHGNC

Synonym(s): BCD541, SMNC, GEMIN1, TDRD16B

Locus: 5q13.2

Protein: Survival motor neuron protein isoform j

 

Disorders

Tests

Test Type
Molecular (30)
Multi-Gene Panel (24)
Multi-Method Panel (9)
Test Method
Del/Dup (CNV) (23)
Linkage Analysis (1)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (10)
Prenatal/Carrier
Prenatal (14)
Carrier (19)
Lab Location
USA(13)
Canada(3)
Germany(3)
Spain(4)
Brazil(1)
Greece(1)
Portugal(1)
India(1)
Iran, Islamic Republic of(1)
Korea, Republic of(1)
Finland(1)
 
Spinal Muscular Atrophy (SMN2) Deletion/Duplcation Analysis
method(s): ◦ Del/Dup (CNV) 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Spinal Muscular Atrophy (SMN2) Test
method(s): ◦ Del/Dup (CNV) 
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada
Spinal Muscular Atrophy (SMN2) Test
method(s): ◦ Del/Dup (CNV) 
Children's Hospital of Eastern Ontario, Genetics Diagnostic Laboratory - Ottawa, Canada
Spinal muscular atrophy test
method(s): ◦ Del/Dup (CNV) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Spinal Muscular Atrophy (SMN2)
method(s): ◦ Del/Dup (CNV) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
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: 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: 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: ~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: 2-3 weeks
price: contact lab
Spinal Muscular Atrophy
method(s): ◦ Del/Dup (CNV) 
Genomic Engenharia Molecular Ltda - Sao Paulo, Brazil
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
Spinal muscular atrophy, type III (sequence analysis of SMN2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
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 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
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 weeks
price: contact lab
Spinal muscular atrophy type 3, modifier of
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