Fee code: 16309
Aliases: Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
PCR and sequencing
Consult with laboratory staff
Sample must be received at the IBC within 24 hours after collection. Attach summary medical history. You can also submit 30 ul of frozen RNA or 60 ul of DNA or cDNA at room temperature.
Skin biopsy (for fibroblast culture)
Área de 3 mm2 y 1 mm de profundidad
Área de 3 mm2 y 1 mm de profundidad
Skin biopsy of the inside of the forearm (hairless area) previously disinfected with 96ºC alcohol (not use any other disinfectant or topical anesthetic). Place the biopsy in a sealed sterile tube with screw cap and sterile culture medium (fetal serum free) or HANKS medium. The sample can also be sent in sterile saline solution, in this case, the laboratory must receive the sample within 24 hours after collection.
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At room temperature in sterile culture medium.
Frozen specimen, Contaminated specimen
Interpretive report of the results
Values | Units | Age | |||
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ACADVL gene (VLCAD deficiency) - mutation screening |
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Biomedical Diagnostic Center (CDB)
Villarroel, 170 · 08036 Barcelona
Tel: +34 93 227 54 64 · Fax: +34 93 227 98 75 · atencdb(ELIMINAR)@clinic.cat · www.hospitalclinic.org