Mitochondrial fatty acid oxidation disorders (FAOD)

Screening for mitochondrial fatty acid oxidation disorders

Screening mitochondrial β-oxidation

A palmitate loading test (acylcarnitine profiling) is performed to establish whether a patient suffers from a mitochondrial fatty acid oxidation defect. Each disorder is associated with a specific acylcarnitine profile. Subsequently, the enzyme deficiency has to be confirmed by analysis of the activity of that particular enzyme (see list of tests) or in case of a suspected multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) by molecular analysis (see DNA diagnostics). Note that certain mild deficiencies can be associated with a normal acylcarnitine profile. In addition, the palmitate loading test can be performed to study the effect of mutations in the genes encoding the different β-oxidation enzymes on the flux through the mitochondrial β-oxidation system.

Price

€ 650.
€ 750 for a palmitate loading test plus one single β-oxidation enzyme activity measurement.
€ 950 for a palmitate loading test and oleate β-oxidation measurement.

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.

Carnitine/acylcarnitine transporter (CACT)

Disease

CACT deficiency.

Description

Carnitine/acylcarnitine transporter (CACT) catalyzes the import of acylcarnitines generated by CPT1 in exchange for free carnitine and is deficient in carnitine translocase (carnitine acylcarintine carrier) deficiency. CACT activity is measured with radiolabeled acetyl-carnitine in cultured fibroblasts.

OMIM

212138

Method

Radiochemistry

Price

€ 650
€ 750 for overall β-oxidation measurement plus one single β-oxidation enzyme activity measurement in cultured fibroblasts.

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.
Carnitine palmitoyltransferase 1 (CPT1)

Disease

CPT1 deficiency.

Description

Carnitine palmitoyltransferase 1 (CPT1) catalyzes the formation of acylcarnitines from acyl-CoAs and is the first and rate-limiting step of the mitochondrial oxidation of long-chain fatty acids. CPT1 activity is measured with labeled palmitoyl-CoA in cultured fibroblasts.

OMIM

255120

Method

MS/MS

Price

€ 650

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.
Carnitine palmitoyltransferase 2 (CPT2)

Disease

CPT2 deficiency.

Description

Carnitine palmitoyltransferase 2 (CPT2) catalyzes the formation of acyl-CoAs from acylcarnitines after transport into the mitochondrion before they can be oxidized.

OMIM

255110 608836 600649

Method

UPLC-UV

Price

€ 425
€ 750 for overall β-oxidation measurement plus one single β-oxidation enzyme activity measurement in cultured fibroblasts.

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.
Short-chain 3-hydroxy-acyl-CoA dehydrogenase (SCHAD)

Disease

SCHAD deficiency.

Description

Short-chain 3-hydroxy-acyl-CoA dehydrogenase (SCHAD) catalyzes the third step of the mitochondrial beta-oxidation pathway for short-chain fatty acids.

OMIM

231530

Method

Spectrophotometry

Price

€ 425

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.
Short-chain acyl-CoA dehydrogenase (SCAD)

Disease

SCAD deficiency.

Description

Short-chain acyl-CoA dehydrogenase (SCAD) is the first enzyme of the mitochondrial beta-oxidation pathway for short-chain fatty acids.

OMIM

201470

Method

UPLC-UV

Price

€ 425
€ 750 for overall β-oxidation measurement plus one single β-oxidation enzyme activity measurement in cultured fibroblasts.

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.
Long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency

Disease

  • Long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency
  • Long-chain 3-ketothiolase (LCKAT) deficiency
  • Mitochondrial trifunctional protein (MTP) deficiency

Description

Long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) and long-chain 3-ketothiolase (LCKAT) are part of the Mitochondrial trifunctional protein (MTP) complex and catalyze the third and fourth step, respectively, of the mitochondrial beta-oxidation pathway for long-chain fatty acids. Both the LCHAD and LCKAT activity need to be measured in order to establish LCHAD/LCKAT/MTP deficiency.

OMIM

609015 609016

Method

UPLC-UV

Price

€ 650

Materials:


Whole EDTA blood

  • Test material: peripheral blood mononuclear cells isolated from whole blood.
  • Conditions: room temperature.
  • Specifics: At least 7-10 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 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.
Medium-chain acyl-CoA dehydrogenase (MCAD)

Disease

MCAD deficiency.

Description

Medium-chain acyl-CoA dehydrogenase (MCAD) is the first enzyme of the mitochondrial beta-oxidation pathway for medium-chain fatty acids.

OMIM

201450

Method

UPLC-UV

Price

€ 425
€ 750 for overall β-oxidation measurement plus one single β-oxidation enzyme activity measurement in cultured fibroblasts.

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.
Myristate β-oxidation (flux assay)

Description

Myristate beta-oxidation activity measurements performed with tritiated-myristate in cultured skin fibroblasts measures the flux through the mitochondrial beta-oxidation system. It can be used to investigate whether a patient suffers from a mitochondrial medium-chain fatty acid oxidation defect (e.g. MCADD or MADD). In case of a reduced myristate beta-oxidation activity additional investigations have to be performed to identify the underlying defect (e.g. palmitate loading test, enzyme activity assays or molecular analysis). Note that in mild deficiencies the flux through the mitochondrial beta-oxidation system can be normal. In addition, myristate beta-oxidation activity measurement can be performed to study the effect of mutations in genes encoding the different β-oxidation enzymes on the flux through the mitochondrial β-oxidation system. This information can be used for therapeutic strategies.

Method

Radiochemistry

Price

€ 650
€ 750 for myristate β-oxidation measurement plus one single β-oxidation enzyme activity measurement.
€ 950 for myristate β-oxidation measurement and palmitate loading test.

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.
Oleate β-oxidation (flux assay)

Description

Oleate beta-oxidation activity measurements performed with tritiated-oleate in cultured skin fibroblasts measures the flux through the mitochondrial beta-oxidation system. It can be used to investigate whether a patient suffers from a mitochondrial long-chain fatty acid oxidation defect. In case of a reduced oleate beta-oxidation activity additional investigations have to be performed to identify the underlying defect (e.g. palmitate loading test, enzyme activity assays or molecular analysis). Note that in mild deficiencies the flux through the mitochondrial beta-oxidation system can be normal. In addition, oleate beta-oxidation activity measurement can be performed to study the effect of mutations in genes encoding the different β-oxidation enzymes on the flux through the mitochondrial β-oxidation system. This information can be used for therapeutic strategies.

Method

Radiochemistry

Price

€ 650
€ 750 for oleate β-oxidation measurement plus one single β-oxidation enzyme activity measurement.
€ 950 for oleate β-oxidation measurement and palmitate loading test.

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.
Plasmamembrane carnitinetransporter (OCTN2)

Disease

Primary carnitine deficiency.

Description

Plasmamembrane carnitinetransporter (OCTN2) is the sodium dependent plasmamembrane transporter for carnitine and is deficient in primary carnitine deficiency. OCTN2 activity is measured with radiolabeled carnitine in cultured fibroblasts.

OMIM

212140

Method

MS/MS

Price

€ 650

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.
Very long-chain acyl-CoA dehydrogenase (VLCAD)

Disease

VLCAD deficiency.

Description

Very long-chain acyl-CoA dehydrogenase (VLCAD) is the first enzyme of the mitochondrial beta-oxidation pathway for long-chain fatty acids.

OMIM

201475

Method

UPLC-UV

Price:

€ 425
€ 750 for overall β-oxidation measurement plus one single β-oxidation enzyme activity measurement in cultured fibroblasts.

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.