Ketolysis defects
The screening for a ketolysis defect
The screening for a ketolysis defect involves:
1) Succinyl-CoA: 3-oxoacid transferase (SCOT) activity measurement and
2) β-ketothiolase (2-methyl-acetoacetyl-CoA specific) activity measurement.
Price
€ 722 for measurement of both enzymes.
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.
Whole EDTA blood
- Test material: Peripheral blood mononuclear cells isolated from whole blood.
- Conditions: Room temperature.
- Specifics: At least 10 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 48 hours after drawing. Include one control blood sample as a control for shipment conditions. Please complete the test request form and send it along with the sample.
- TAT: 3 weeks.
Succinyl-CoA: 3-oxoacid transferase (SCOT)
Disease
SCOT deficiency.
Description
Succinyl-CoA: 3-oxoacid transferase (SCOT) catalyzes the first step in the degradation of ketones in extrahepatic tissues.
OMIM
Method
UPLC-UV
Price
€ 472
€ 722 for combined screening of SCOT and beta-ketothiolase.
Materials:
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.
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.
β-ketothiolase (2-methyl-acetoacetyl-CoA specific)
Disease
β-ketothiolase deficiency.
Description
β-ketothiolase (2-methyl-acetoacetyl-CoA specific) catalyzes the second step in the degradation of ketones and the last step in the degradation of isoleucine.
OMIM
Method
UPLC-UV
Price
€ 472
€ 722 for combined screening of SCOT and beta-ketothiolase.
Materials:
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.
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.