Amino acid metabolism

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.

3-Hydroxy-3-methylglutaryl-CoA lyase (HMGCoA lyase)

Disease

HMG-CoA lyase deficiency.

Description

3-Hydroxy-3-methylglutaryl-CoA lyase (HMGCoA lyase) catalyzes an essential step in the formation of ketones in the liver and is involved in the degradation of leucine.

OMIM

246450

Method

Spectrophotometry

Price

€ 472

Test request form Enzyme diagnostics

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.

3-Hydroxy-isobutyric acid dehydrogenase (HIBADH)

Disease

3-hydroxyisobutyric aciduria.

Description

3-Hydroxy-isobutyric acid dehydrogenase (HIBADH) is involved in the degradation of valine.

OMIM

608475

Method

Spectrophotometry

Price

€ 472

Test request form Enzyme diagnostics

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.

3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH)

Disease

3-hydroxyisobutyric aciduria.

Description

3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH) is involved in the degradation of valine.

OMIM

610690

Method

Spectrophotometry

Price

€ 472

Test request form Enzyme diagnostics

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.

Isovaleryl-CoA dehydrogenase (IVD)

Disease

Isovaleric acidemia.

Description:

Isovaleryl-CoA dehydrogenase (IVD) catalyzes the third reaction in the degradation pathway of leucine and is deficient in isovaleric acidemia.

OMIM

243500

Method

UPLC-UV

Price

€ 472

Test request form Enzyme diagnostics

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.

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD)

Disease

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) / short-branched-chain hydroxyacyl-CoA dehydrogenase (SBCHAD) deficiency.

Description

2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD), also called short branched-chain hydroxyacyl-CoA dehydrogenase (SBCHAD), catalyzes the fifth reaction in the degradation pathway of isoleucine.

OMIM

300438

Method

Spectrophotometry

Price

€ 472

Test request form Enzyme diagnostics

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.
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 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.

3-Methyl-crotonyl-CoA carboxylase (MCC)

Disease

MCC deficiency/3-methyl-crotonylglycinuria.

Description

3-Methyl-crotonyl-CoA carboxylase (MCC) catalyzes the fourth reaction in the degradation pathway of leucine and is deficient in 3-methyl-crotonylglycinuria.

OMIM

210200 210210

Method

HPLC-UV

Price

€ 472

Test request form Enzyme diagnostics

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.

3-Methyl-glutaconyl-CoA hydratase (MGH)

Disease

3-methyl-glutaconic aciduria type 1.

Description

3-Methyl-glutaconyl-CoA hydratase (MGH) catalyzes the fifth reaction in the degradation pathway of leucine and is deficient in 3-methyl-glutaconic aciduria type 1.

OMIM

250950

Method

HPLC-UV

Price

€ 472

Test request form Enzyme diagnostics

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.

Methylmalonate semialdehyde dehydrogenase (MMSDH)

Disease

Methylmalonate semialdehyde dehydrogenase (MMSDH) deficiency.

Description

Methylmalonate semialdehyde dehydrogenase (MMSDH) catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA, respectively which is part of the valine and pyrimidine catabolic pathways.

OMIM

603178 614105

Method

MS/MS

Price

€ 472

Test request form Enzyme diagnostics

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.

Ornithine aminotransferase (OAT)

Disease

Gyrate Atrophy.

Description

Ornithine aminotransferase (OAT) plays a central role in ornithine metabolism and catalyses the reversible transamination of ornithine and 2-oxoglutarate to pyrroline-5-carboxylate (P5C) and glutamate.

OMIM

258870

Method

HPLC-UV

Price

€ 472

Test request form Enzyme diagnostics

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.

Propionyl-CoA carboxylase (PCC)

Disease

Propionic aciduria.

Description

Propionyl-CoA carboxylase (PCC) catalyzes the carboxylation of propionyl-CoA, derived from different precursor such as valine and isoleucine, to methylmalonyl-CoA.

OMIM

606054

Method

UPLC-UV

Price

€ 472

Test request form Enzyme diagnostics

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 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.

Short branched-chain acyl-CoA dehydrogenase (SBCAD)

Disease

SBCAD deficiency.

Description

Short branched-chain acyl-CoA dehydrogenase (SBCAD) catalyzes the third reaction in the degradation pathway of isoleucine.

OMIM

610006

Method

UPLC-UV

Price

€ 472

Test request form Enzyme diagnostics

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.
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 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.

Short-chain enoyl-CoA hydratase/Crotonase (ECHS1)

Disease

Short-chain enoyl-CoA hydratase/Crotonase deficiency.

Description

Short-chain enoyl-CoA hydratase/Crotonase catalyses the second step of the degradation pathway of valine and isoleucine and of the mitochondrial beta-oxidation pathway.

OMIM

602292

Method

UPLC-UV

Price

€ 472

Test request form Enzyme diagnostics