SH3TC2

OMIMHGNC

Synonym(s): KIAA1985, CMT4C

Locus: 5q32

Protein: SH3 domain and tetratricopeptide repeat-containing protein 2

 

Disorders

Tests

Test Type
Molecular (66)
Multi-Gene Panel (56)
Multi-Method Panel (24)
Test Method
Del/Dup (CNV) (28)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (4)
Sequencing, Capillary (Sanger) (15)
Sequencing, Next Gen (50)
Prenatal/Carrier
Prenatal (21)
Carrier (31)
Lab Location
Spain(13)
USA(30)
Portugal(5)
Estonia(1)
Belgium(1)
United Kingdom(2)
Poland(1)
Greece(1)
Germany(8)
Canada(2)
Austria(1)
Finland(1)
 
TAT: 12-13 weeks
price: contact lab
Hereditary Neuropathies: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 6-7 weeks
price: contact lab
Detection of mutations, p.C737X and p.R1109X in SH3TC2 gene, p.R148X in NDRG1 gene and c.-40237G>C in HK1 gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 13 genes: EGR2, FGD4, FIG4, GDAP1, GDAP1L1, HK1, MPZ, MTMR2, NDRG1, PMP22, PRX, SBF2, SH3TC2.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 34 genes: AARS, ARHGEF10, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GDAP1L1, GJB1, HK1, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PRX, PMP22, PRPS1, RAB7A, SBF2, SH3TC2, SPTLC1, TRPV4, YARS.
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
Sanger sequencing of the SH3TC2 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: >20 weeks
price: contact lab
Gene panel testing for Charcot-Marie Tooth/ Inherited peripheral neuropathies
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 8-10 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 10 weeks
price: contact lab
Hereditary Neuropathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Charcot-Marie-Tooth Disease Type 4C, Sequencing SH3TC2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Neuromuscular Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Charcot-Marie-Tooth disease type 4C (CMT4C, sequence analysis of SH3TC2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Hereditary peripheral neuropathies including Charcot-Marie-Tooth disease (NGS panel for 74 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 8-9 weeks
price: contact lab
Demyelinating CMT Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Charcot-Marie-Tooth Disease: SH3TC2 gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Hereditary Peripheral Neuropathy, Panel Massive Sequencing (NGS) 31 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: contact lab
price: $1,502.00
Charcot-Marie-Tooth Disease
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
Charcot-Marie-Tooth
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 5-6 weeks
price: $1,950.00
CMT - Charcot-Marie-Tooth Neuropathy Multi-Gene NGS Panel
method(s): ◦ Sequencing, Next Gen 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
Hereditary Neuropathies
method(s): ◦ Sequencing, Next Gen 
Merseyside & Cheshire Regional Genetics Laboratory - Liverpool, United Kingdom
Charcot-Marie-Tooth Disease Type 4C (SH3TC2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
Diagnostic Service Facility (DSF) - Antwerp, Belgium
TAT: 3-5 weeks
price: contact lab
Neuropathy, Motor and Sensory – Demyelinating
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Neuropathy, Motor and Sensory – Axonal
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Neuropathy, Motor and Sensory – Basic Diagnostics
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Neuropathy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Charcot-Marie-Tooth Neuropathy Type 4C Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Charcot-Marie-Tooth and Sensory Neuropathies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Charcot-Marie-Tooth Disease Type 4, Deletions-Duplications (MLPA) GDAP1,MTMR2,SBF2,EGR2,PRX,SH3TC2,NEFL Genes
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Charcot-Marie-Tooth disease (NGS panel for 43 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Hereditary Neuropathies: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Hereditary Neuropathies: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 3-4 weeks
price: $2,000.00
Charcot-Marie-Tooth disease NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,500.00
Charcot-Marie-Tooth disease NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 2-4 weeks
price: contact lab
Charcot Marie Tooth Disease (NextGen Sequencing Panel and Copy Number Analysis; 54 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
AXONAL Charcot Marie Tooth Disease (NextGen Sequencing Panel and Copy Number Analysis; 54 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
DEMYELINATING Charcot Marie Tooth Disease (NextGen Sequencing Panel and Copy Number Analysis; 54 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 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
Motor and Sensory Neuropathy Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Peripheral Neuropathy Expanded Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 4-6 Weeks
price: contact lab
Charcot Marie Tooth Disease Extended 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
Hereditary Neuropathies 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
SH3TC2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: $3,350.00
Charcot-Marie-Tooth disease NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
Charcot-Marie-Tooth disease type 4C (CMT4C, deletion/duplication analysis on SH3TC2 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
Motor Neuron Disorder and Related Diseases, Panel Massive Sequencing (NGS) 49 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 10-12 weeks
price: $1,290.00
ExoNIM Charcot ­- Marie­ - Tooth Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain
TAT: 3-4 weeks
price: $1,670.00
Charcot Marie Tooth - Comprehensive Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Charcot Marie Tooth - Demyelinating Neuropathy Deletion/Duplication Panel
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
Charcot Marie Tooth - Axonal Neuropathy Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,140.00
Charcot Marie Tooth - Comprehensive Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,690.00
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,090.00
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,990.00
Comprehensive Neuropathy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Comprehensive Neuropathy Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Charcot-Marie-Tooth (Neuropathie Charcot-Marie-Tooth)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 11-12 weeks
price: contact lab
Charcot-Marie-Tooth CMT type 4 extended NGS panel
method(s): ◦ Sequencing, Next Gen 
IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal
Charcot-Marie-Tooth Disease Type 4, Panel Massive Sequencing (NGS) 11 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
CMT4C
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 7-8 weeks
price: contact lab
CMT neuropathy panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Comprehensive Neuropathies Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Charcot-Marie-Tooth Neuropathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Charcot-Marie-Tooth Neuropathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA