Cholesterol/isoprenoid synthesis defects

Screening

Sterol profiling is performed to establish whether a patient suffers from a cholesterol biosynthesis defect (such as Smith-Lemli-Opitz syndrome (OMIM 270400), desmosterolosis (OMIM 602398), Conradi-Hunermann syndrome (OMIM 3302960), lathosterolosis (OMIM 607330) and Greenberg dysplasia (OMIM 215140).

OMIM

270400 602398 302960 607330 215140

Price

€ 722

Material

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.
• TAT: 3 months.

* Note: This test is not covered by the accreditation of the laboratory.

Disease

Mevalonate kinase deficiency.

Description

Mevalonate kinase (MVK) catalyzes an essential step in the cholesterol/isoprenoid biosynthesis pathway. MVK is deficient in mevalonic aciduria, and Hyper-IgD and periodic fever syndrome.

OMIM

251170 260920

Method

Radiochemistry

Price

€ 472

Materials:

Whole EDTA blood

• Test material: peripheral blood mononuclear cells isolated from whole blood.
• Conditions: room temperature.
• Specifics: At least 4.5 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: 3 weeks.

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.
• TAT: 3 months.