TRNT1

OMIMHGNC

Synonym(s): MtCCA, CGI-47, CCA1

Locus: 3p26.2

Protein: CCA tRNA nucleotidyltransferase 1, mitochondrial

 

Disorders

Tests

Test Type
Molecular (9)
Multi-Gene Panel (7)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (5)
Sequencing, Capillary (Sanger) (2)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (8)
Prenatal/Carrier
Carrier (2)
Lab Location
USA(5)
Germany(2)
Portugal(2)
 
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: 4-6 weeks
price: contact lab
Ataxia and Differential Diagnoses Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: contact lab
Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 431 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
Fever Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 36 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Oxidative Phosphorylation (OXPHOS) Defects (NextGen Sequencing Panel and Copy Number Analysis; 232 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
TRNT1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Predominantly antibody deficiencies: recurrent bacterial infections – all subtypes (NGS panel of 28 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Predominantly antibody deficiencies: recurrent bacterial infections – significant reduction of IgG, IgA and/or IgM antibodies (NGS panel of 20 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 3-4 weeks
price: contact lab
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany