Test Name & Code:
• Test Name: Congenital Glycosylation defect Type 1A
• Test Code: 3646
• Test Code: 3646
Related Diseases & Genes:
• “CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A” (OMIM #: 212065) || Gene: PMM2 (OMIM #: 601785)
Synonyms:
• CDG Ia; CDGIa
• JAEKEN SYNDROME
• PHOSPHOMANNOMUTASE 2 DEFICIENCY
• “CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY”
• JAEKEN SYNDROME
• PHOSPHOMANNOMUTASE 2 DEFICIENCY
• “CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY”
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 4 weeks
• Performed: Everyday
• Reported: 4 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Inborn Errors of Metabolism
