Biotinidase

Disease

Biotinidase deficiency.

Description:

Biotinidase is required for the recycling of biotin and for the utilization of protein bound biotin from the diet.

OMIM

253260

Method

Spectrophotometry

Price

€ 100

Materials:


Whole EDTA blood

  • Test material: Peripheral blood mononuclear cells isolated from whole blood.
  • Conditions: Room temperature.
  • Specifics: 2-5 ml EDTA blood of the patient should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Include one blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
  • TAT: 2 weeks.

EDTA plasma

  • Test material: Plasma.
  • Conditions: Dry ice.
  • Specifics: 200 µl plasma from EDTA blood of the patient should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes, stored at -80°C and subsequently shipped on dry ice. Please complete the test request form and send it along with the sample.
  • TAT: 2 weeks.