CHAT

OMIMHGNC

Locus: 10q11.2

Protein: Choline acetyltransferase

 

Disorders

Filter By:

Test Type
Molecular
Cytogenetic
Panel
Test Method
Sequencing, Next Gen
Sequencing, Capillary (Sanger)
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Mutation Scanning of Entire Coding Region
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Germany
Spain
USA

Tests

Test Details Laboratory
Congenital Myasthenic Del/Dup Panelmethod(s):
◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)

TAT: 4-6 weeks
price: contact lab
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Congenital Myasthenic Syndrome Deletion/Duplication Panelmethod(s):
◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)

TAT: 3-5 weeks
price: $1,990.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Congenital Myasthenic Syndrome Deletion/Duplication Panelmethod(s):
◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)

TAT: 3-5 weeks
price: $2,190.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Congenital Myasthenic Syndrome NextGen Sequencing (NGS) Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 5-7 weeks
price: $2,790.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Congenital Myasthenic Syndrome NGS Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 4-6 weeks
price: contact lab
Fulgent Diagnostics - Temple City, CA, USA
Congenital Myasthenic Syndrome Sanger Sequencing Panelmethod(s):
◦ Sequencing, Capillary (Sanger)

TAT: 4-6 weeks
price: $7,010.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Congenital Myasthenic Syndrome Sequencing Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 8-10 weeks
price: contact lab
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Congenital Myasthenic Syndrome With Episodic Apnea via the CHAT Genemethod(s):
◦ Sequencing, Capillary (Sanger)

TAT: 3-4 weeks
price: $940.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Congenital Myasthenic Syndrome With Episodic Apnea via the CHAT Genemethod(s):
◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)

TAT: 3-5 weeks
price: $990.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Congenital Myasthenic Syndromes Multi-Gene Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 8-10 weeks
price: contact lab
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Congenital Myasthenic Syndromes: Sequencing Panelmethod(s):

TAT: 12-13 weeks
price: contact lab
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
devSEEK Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disordersmethod(s):
◦ Sequencing, Next Gen

TAT: 3-5 weeks
price: contact lab
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
Expanded Neuromuscular Disorders: Sequencing and Deletion/Duplication Panelmethod(s):

TAT: 12-13 weeks
price: contact lab
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Fetal Akinesia / Arthrogryposis (AMC) - Multi-gene Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 8-10 weeks
price: contact lab
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Myopathy/Muscular Dystrophy - entire panelmethod(s):
◦ Sequencing, Next Gen

TAT: 8-10 weeks
price: contact lab
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
NGS of 13 genes: AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, MUSK, RAPSN, SCN4Amethod(s):
◦ Sequencing, Next Gen
◦ Mutation Scanning of Entire Coding Region

TAT: 7-8 weeks
price: contact lab
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
NGS of 2 genes: CHAT, VAMP2.method(s):
◦ Sequencing, Next Gen
◦ Mutation Scanning of Entire Coding Region

TAT: 7-8 weeks
price: contact lab
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
NGS of 40 genes: AGRN, BLK, C5, CCL21, CCR6, CD2, CD28, CD40, CD58, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, IL2, IL21, IL2RA, IL2RB, IL6ST, IRF5, MUSK, PRDM1, PRKCQ, PTPRC, RAG1, RAPSN, RBPJ, SCN4A, STAT4, TAGAP, TNFAIP3, TNFRSF14, Tmethod(s):
◦ Sequencing, Next Gen
◦ Mutation Scanning of Entire Coding Region

TAT: 9-10 weeks
price: contact lab
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Nuclear-Mito NGS Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 4-6 weeks
price: contact lab
Fulgent Diagnostics - Temple City, CA, USA
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exomemethod(s):
◦ Sequencing, Next Gen

TAT: 3-5 weeks
price: contact lab
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
Sanger sequencing of the CHAT genemethod(s):
◦ Mutation Scanning of Entire Coding Region
◦ Sequencing, Capillary (Sanger)

TAT: 6-7 weeks
price: contact lab
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain