MTHFD1
OMIMHGNC
Synonym(s): MTHFC, MTHFD
Locus: 14q23.3
Protein: C-1-tetrahydrofolate synthase, cytoplasmic
Tests
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nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome method(s): ◦ Sequencing, Next Gen Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
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 |
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 |
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 |
MTHFD1 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
Nuclear-Mito NGS Panel method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
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 |