SLC19A1

OMIMHGNC

Synonym(s): FOLT, RFC1

Locus: 21q22.3

Protein: Folate transporter 1

Tests

Test Type
Molecular (7)
Multi-Gene Panel (4)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (4)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (5)
Prenatal/Carrier
Carrier (1)
Lab Location
Portugal(1)
USA(4)
Czech Republic(1)
Poland(1)
 
Variants in reduced folate carrier 1 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
Comprehensive Panel: Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Methotrexate resistance (sequence analysis of SLC19A1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Neurotransmitter Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 101 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Tetrahydrofolate Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 12 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
SLC19A1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Tetrahydrofolate Metabolism NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA