Postmortem specimens Analyses Blood a 10-mL EDTA tube Chromosome analysis 4–6 filter paper spots DNA analysis (requires PCR amplification) 5-mL heparinized tube Tandem mass spectrometry for organic acidemias, urea cycle defects, fatty acid oxidation defects Acylcarnitines Amino acids Bile acids Urine a Urine 10 mL in 1–2-mL Amino acids aliquots Organic acids Acylcarnitines Bile acids Cerebrospinal fluid (CSF) CSF 3–5 mL in 1-mL Glucose aliquots Lactate, pyruvate Glycine, serine Neurotransmitters Organic acids Aqueous humor Aqueous humor Organic acids Skin biopsy a Skin—2 samples, 3-mm Chromosome analysis diameter each DNA analysis Enzyme activity Comments on collection, storage Obtain blood by vascular access or intracardiac puncture For filter paper spots, apply free-flow blood to filter paper, saturate through to back, not layer drops Air-dry 3–4 hrs, not heat Place in envelope, refrigerate Freeze plasma at −20°C or −70°C, store erythrocytes at 4°C Collect by bladder catheterization, suprapubic aspiration If unsuccessful, irrigate bladder with 20mL normal saline and collect or perform intrabladder swabs at autopsy Freeze at −20°C or −70°C If not collected for clinical care, may be appropriate to collect postmortem Freeze at −20°C or −70°C May be appropriate if blood not available Collect by intraocular puncture at autopsy Freeze at −20°C or −70°C Best collected premortem or immediately postmortem, usually viable 2–3 days, wk may be helpful to discuss with specialist Skin, punch, or incisional biopsy, sterile technique, sites—flexor surface forearm, anterior thigh, transport in sterile tube completely filled with tissue culture media, viral culture