MTHFD1

OMIMHGNC

Synonym(s): MTHFC, MTHFD

Locus: 14q23.3

Protein: C-1-tetrahydrofolate synthase, cytoplasmic

Tests

Test Type
Molecular (9)
Multi-Gene Panel (8)
Multi-Method Panel (5)
Test Method
Del/Dup (CNV) (5)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (9)
Prenatal/Carrier
Carrier (2)
Lab Location
USA(5)
Poland(1)
Portugal(2)
Spain(1)
 
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: 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
MTHFD1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Nuclear-Mito NGS Panel
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
CID with associated or syndromic features – All subtypes (NGS panel of 45 genes and deletion of 22q11.2 by MLPA)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
CID with associated or syndromic features – other syndromes (NGS panel of 16 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Neural Tube Defects and Related Disorders, Panel Massive Sequencing (NGS) 9 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain