Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Screening for N-linked congenital disorders of glycosylation
Providing information on specific structural oligosaccharide abnormalities to potentially direct further genetic testing
Congenital disorders of glycosylation (CDG) comprise a large group of inborn errors of metabolism affecting predominantly N- and O-glycosylation of proteins.
N-linked CDG commonly present as clinical syndromes with multisystemic involvement and a broad clinical spectrum.
In addition to transferrin and apolipoprotein CIII isoform analysis, this test also detects and analyzes N-linked oligosaccharides by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI TOF MS) for a more comprehensive evaluation of CDG.
Test ID | Reporting Name | Available Separately | Always Performed |
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CDG | CDG, S | Yes | Yes |
When this test is ordered, carbohydrate deficient transferrin for congenital disorders will always be performed at an additional charge.
Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)