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Cerebrospinal fluid (CSF) investigations
This test is important in patients with DHPR deficiency and in persons with the Cerebral folate deficiency (CFD)
Sampling
Discard the first 0.5
ml of CSF and collect the next 1-3 ml in a small tube. Keep
immediately frozen
at -70°C.
There is no need for any additives or to collect additional
CSF fractions.
Keep a portion of 1 ml CSF frozen at -70°C in your own
laboratory until results arrive.
Pitfalls
avoid medications,
avoid blood contamination (centrifuge before freezing), keep
in dark at -70°C
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