TYMP

OMIMHGNC

Synonym(s): MNGIE, ECGF1

Locus: 22q13

Protein: Thymidine phosphorylase

 

Disorders

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

Tests

Test
TAT: 12-16 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 9-11 weeks
price: contact lab
Combined Mito Genome Plus Mito 140 Nuclear Gene Panel
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 9-11 weeks
price: contact lab
Comprehensive Mitochondrial Nuclear Gene Panel
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
Lactic Acidosis-Pyruvate NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 9-11 weeks
price: contact lab
Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 2-4 weeks
price: contact lab
Mitochondrial Depletion and Deletion Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Transgenomic - New Haven - New Haven, CT, USA
TAT: 8-10 weeks
price: contact lab
Mitochondrial Disorders Multi-Gene Panel (Nuclear Genes)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Mitochondrial DNA Depletion Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 9-11 weeks
price: contact lab
Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 3-4 weeks
price: $710.00
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease via the TYMP Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Mitochondrial Neurogastrointestinal Encephalopathy Disease Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague 2, Czech Republic
TAT: 4-5 weeks
price: contact lab
MNGIE-Thymidine Phophorylase Seq
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
MNGIE-Thymidine Phosphorylase Seq
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
MNGIE-Thymidine Phosphorylase Seq
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 10-11 weeks
price: contact lab
MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-6 weeks
price: contact lab
Myopathy-Rhabdomyolysis NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 8-10 weeks
price: contact lab
Neuropathy Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 9-10 weeks
price: contact lab
NGS of 7 genes: C10orf2, OPA1, POLG1, POLG2, RRM2B, SLC25A4, TYMP
method(s): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-6 weeks
price: contact lab
Nuclear-Mito 500 NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 11-12 weeks
price: contact lab
NuclearMitome
method(s): ◦ Sequencing, Next Gen 
Transgenomic - New Haven - New Haven, CT, USA
TAT: 3-5 weeks
price: contact lab
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 9-11 weeks
price: contact lab
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
method(s): ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the TYMP gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 2 weeks
price: contact lab
Thymidine Determination - Plasma
method(s): ◦ Quantitative Biochemical Analysis 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
TYMP Deletion/Duplication Analysis
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 2-4 weeks
price: contact lab
TYMP Sequence Analysis (MNGIE Syndrome)
method(s): ◦ Sequencing, Capillary (Sanger) 
Transgenomic - New Haven - New Haven, CT, USA
TAT: 4-5 weeks
price: contact lab
TYMP Sequence and Deletion/Duplication Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA