BPGM

OMIMHGNC

Locus: 7q33

Protein: Phosphoglycerate mutase

 

Disorders

Tests

Test Type
Molecular (4)
Multi-Gene Panel (2)
Multi-Method Panel (1)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (2)
Sequencing, Next Gen (3)
Lab Location
Spain(1)
USA(3)
 
Erythrocytosis due to Bisphosphoglycerate Mutase Deficiency, Sequencing BPGM
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: contact lab
Carbohydrate Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 64 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 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: 4-5 Weeks
price: contact lab
BPGM
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA