Disease/indication

X linked adrenoleukodystrophy (X ALD), Zellweger spectrum disorders, ACOX1 deficiency, DBP deficiency and ACBD5 deficiency.

Description

C26lysoPC is a marker for very long chain fatty acid accumulation in the phospholipid fraction and is increased in X linked adrenoleukodystrophy, Zellweger spectrum disorders, ACOX1 deficiency, DBP deficiency and ACBD5 deficiency.

Method

HPLC-MS/MS

TAT

4 Weeks. If the test is performed in cultured fibroblasts the TAT is 3 months

Price

€ 216
€ 1055 for full biochemical peroxisomal screening in cultured fibroblasts.

For requests in blood please use Test request form Metabolite diagnostics and for requests in skin fibroblasts Test request form Enzyme diagnostics.

Test request form Metabolite diagnostics

Test request form Enzyme diagnostics

Materials:

Blood spots

  • Amount: 2 dried bloodspot, 40 μl of blood on a guthrie card.
  • Conditions: Room temperature.
  • Specifics: Either capillary or venous blood spots can be collected. When preparing venous blood spots from EDTA-anticoagulated blood, please spot 40 μl blood per spot on a Guthrie card. The Guthrie card should be air-dried at room temperature for 4 hours.

Plasma

  • Amount: 500 μl.
  • Conditions: Dry ice.
  • Specifics: EDTA plasma (preferred material), heparin plasma also suitable.

Cultured skin fibroblasts

  • Conditions: Room temperature.
  • Specifics: Grow the fibroblasts to near confluence (~ 80% confluent) in a T 25 flask, fill the flask
    completely with sterile buffered (with 25mM Hepes) culture medium (for example HAM or DMEM)
    supplemented with 10% serum and 1% penicilline streptomycine. Cap the flasks tightly and wrap
    the cap with parafilm. Label the flask clearly with identifying information (name of patient and
    date of birth), wrap the culture flaks in protective material and place it in a sealed plastic bag in the
    Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. Fibroblasts need to
    arrive in our laboratory within 48 hours. Please complete the test request form and send it along
    with the sample.If it is not possible to culture fibroblasts from a skin biopsy in a local institute, you
    can send a skin biopsy in sterile buffered (with 25mM Hepes) culture medium (for example HAM
    or DMEM) without serum or antibiotics AT ROOM TEMPERATURE by courier service. The skin
    biopsy needs to arrive in our laboratory within 48 hours. Please complete the test request form
    and send it along with the sample.