Clotted blood tube (Clot activator tube)

Minimum blood volume: 6 mL

Plain CSF bottle

Minimum fluid volume: 1 mL

Please simultaneously collect 6 mL clotted blood for exclusion of congenital disorders of glycosylation.

Paediatric clotted blood tube

Number of vials: 1

Minimum blood volume: 0.8 mL

Nasal secretion or sample for checking CSF leakage is collected into a 10 mL plain CSF collection tube.

Serum:

Diagnosis of congenital disorders of glycosylation (CDG), also known as carbohydrate deficient glycoprotein syndromes.

Nasal or ear discharge:

Checking for CSF leakage.

Abnormal transferrin isoforms were identified based on accurate mass detection. Results were interpreted by medical and scientific staff specialised in the field of inherited metabolic diseases.

Serum:

Normal and CDG type transferrin isoform profiles were differentiated based on the elevation of abnormal transferrin isoform to tetrasialotransferrin ratio.

Nasal or ear discharge:

Presence of CSF-specific asialotransferrin confirms CSF rhinorrhea / otorrhoea.

Results may not be reliable in the following scenarios,

1. In the event of acute crisis of hereditary fructose intolerance, galactosemia, and acute liver disease, patients may have an apparent CDG profile that is indistinguishable from any other true CDG type I cases.
2. Neonate younger than 1 months, due to the presence of maternal transferrin.
3. Recent transfusion, due to the presence of exogenous transferrin.
4. Blood-stained fluid may cause false negative result for checking CSF leaking.