TYMP

OMIMHGNC

Synonym(s): MNGIE, ECGF1

Locus: 22q13

Protein: Thymidine phosphorylase

 

Disorders

Tests

Test Type
Biochemical (1)
Molecular (43)
Panel (31)
Test Method
Del/Dup (CNV) (11)
Mutation Scanning of Entire Coding Region (2)
Quantitative Biochemical Analysis (1)
Sequencing, Capillary (Sanger) (10)
Sequencing, Next Gen (32)
Prenatal/Carrier
Prenatal (9)
Carrier (9)
Lab Location
USA(30)
Spain(2)
Czech Republic(1)
Poland(2)
Germany(9)
 
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: 4-5 weeks
price: contact lab
TYMP Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
TYMP Sequence and Deletion/Duplication Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
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: 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
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: 9-10 weeks
price: contact lab
NGS of 7 genes: C10orf2, OPA1, POLG1, POLG2, RRM2B, SLC25A4, TYMP
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 11-12 weeks
price: contact lab
NuclearMitome
method(s): ◦ Sequencing, Next Gen 
Transgenomic - New Haven - New Haven, CT, 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: 2-4 weeks
price: contact lab
TYMP Sequence Analysis (MNGIE Syndrome)
method(s): ◦ Sequencing, Capillary (Sanger) 
Transgenomic - New Haven - New Haven, CT, USA
TAT: 7-8 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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
Comprehensive Mitochondrial Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 9-11 weeks
price: contact lab
Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 9-11 weeks
price: contact lab
Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 10-11 weeks
price: contact lab
MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 9-11 weeks
price: contact lab
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 9-11 weeks
price: contact lab
Combined Mito Genome Plus Mito 139 Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 4-6 weeks
price: $1,540.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes NextGen Sequencing (NGS) panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 10-12 weeks
price: contact lab
Mitochondrial Disorders (121 Nuclear Genes) Sequencing
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Mitochondrial Disorders (108 Nuclear Genes) Sequencing and Deletion/Duplication
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Mitochondrial Disorders Panel (mtDNA Sequencing and Deletion/Duplication, 121 Nuclear Genes Sequencing, 119 Nuclear Genes Deletion/Duplication)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 3-4 weeks
price: contact lab
Mitochondrial Disorders (mtDNA and 119 Nuclear Genes) Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, 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
Mitochondrial Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 4-6 Weeks
price: contact lab
Lactic Acidosis-Pyruvate
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
mtDNA Depletion Syndrome
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Myopathy-Rhabdomyolysis
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Nuclear-Mito
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2 Weeks
price: contact lab
TYMP
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 7-8 weeks
price: contact lab
Neuropathy, Motor and Sensory – Axonal
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Mitochondrial Encephalopathy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Epilepsy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Neuropathy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Mitochondrial Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Epilepsy and Mitochondrial Encephalopathy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Mitochondrial Neurogastrointestinal Encephalopathy Disease Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Charcot-Marie-Tooth and Sensory Neuropathies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
nucSEEK Focus
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 6-8 weeks
price: contact lab
Leukodystrophy NGS Panel
method(s): ◦ Sequencing, Next Gen 
Transgenomic - New Haven - New Haven, CT, USA

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