TALDO1

OMIMHGNC

Locus: 11p15.5

Protein: Transaldolase

 

Disorders

Tests

Test Type
Molecular (7)
Multi-Gene Panel (4)
Multi-Method Panel (5)
Test Method
Del/Dup (CNV) (4)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (5)
Prenatal/Carrier
Prenatal (1)
Carrier (2)
Lab Location
Portugal(1)
USA(3)
Spain(1)
Germany(2)
 
Transaldolase defeciency (sequence analysis of TALDO1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Autosomal Dominant and Recessive Cutis Laxa, Panel Massive Sequencing (NGS) 13 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: contact lab
Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 343 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 Metabolic Disease Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 79 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
TALDO1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Transaldolase deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
Hereditary Kidney Disorders - different panels
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Cologne University, Institute of Human Genetics - Cologne, Germany