Mitochondrial fatty acid oxidation disorders (FAOD)

Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)

Description

Brown-Vialetto-Van Laere Syndrome type 1 is caused by mutations in the SLC52A3 gene encoding a riboflavin transporter protein.

OMIM

211530

Gene

SLC52A3

Method

Sanger sequencing

Price

€ 460 Whole gene analysis
€ 240 Carrier analysis
€ 240 extra for Prenatal analysis

TAT

Postnatal analysis: 1 - 3 months
Prenatal analysis: 2 - 3 weeks

Materials:


Genomic DNA

  • Conditions: Room temperature.
  • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

Whole blood

  • Conditions: Room temperature.
  • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

Cultured skin fibroblasts, chorionic villi cells or amniocytes

  • Conditions: Room temperature.
  • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

Chorionic villus sample

  • Conditions: Room temperature.
  • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)

Description

Brown-Vialetto-Van Laere Syndrome type 2 is caused by mutations in the SLC52A2 gene encoding a riboflavin transporter protein.

OMIM

614707

Gene

SLC52A2

Method

Sanger sequencing

Price

€ 460 Whole gene analysis
€ 240 Carrier analysis
€ 240 extra for Prenatal analysis

TAT

Postnatal analysis: 1 - 3 months
Prenatal analysis: 2 - 3 weeks

Materials:


Genomic DNA

  • Conditions: Room temperature.
  • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

Whole blood

  • Conditions: Room temperature.
  • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

Cultured skin fibroblasts, chorionic villi cells or amniocytes

  • Conditions: Room temperature.
  • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

Chorionic villus sample

  • Conditions: Room temperature.
  • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
Brown-Vialetto-Van Laere syndrome 3 (SLC52A1)

Description

Brown-Vialetto-Van Laere Syndrome type 3 is caused by mutations in the SLC52A1 gene encoding a riboflavin transporter protein.

OMIM

607883

    Gene

    SLC52A1

    Method

    Sanger sequencing

    Price

    • Whole gene analysis: € 460
    • Carrier analysis: € 240
    • Prenatal analysis: add € 240

    TAT

    • Postnatal analysis: 1 - 3 months
    • Prenatal analysis: 2 - 3 weeks

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Carnitine-acylcarnitine translocase (CACT) deficiency (SLC25A20 (CACT))

    Description

    The carnitine/acylcarnitine translocase catalyzes the import of acylcarnitines generated by carnitine palmitoyltransferase I in exchange for free carnitine.

    OMIM

    212138

    Gene

    SLC25A20 (CACT)

    Method

    Sanger sequencing

    Price

    € 460 Whole gene analysis
    € 240 Carrier analysis
    € 240 extra for Prenatal analysis

    TAT

    Postnatal analysis: 1 - 3 months
    Prenatal analysis: 2 - 3 weeks

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Carnitine deficiency, Primary (systemic) (SLC22A5 (OCTN2))

    Description

    Primary carnitine deficiency is caused by a deficiency of OCTN2, a sodium-dependent transporter for carnitine located in the plasma membrane.

    OMIM

    212140

    Gene

    SLC22A5 (OCTN2)

    Method

    Sanger sequencing

    Price

    € 460 Whole gene analysis
    € 240 Carrier analysis
    € 240 extra for Prenatal analysis

    TAT

    Postnatal analysis: 1 - 3 months
    Prenatal analysis: 2 - 3 weeks

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Carnitine palmitoyltransferase I (CPT 1) deficiency (CPT1A)

    Description

    Carnitine palmitoyltransferase 1 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.

    OMIM

    255120

    Gene

    CPT1A

    Method

    Sanger sequencing

    Price

    € 680 Whole gene analysis
    € 240 Carrier analysis
    € 240 extra for Prenatal analysis

    TAT

    Postnatal analysis: 1 - 3 months
    Prenatal analysis: 2 - 3 weeks

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Carnitine palmitoyltransferase 2 (CPT 2) deficiency (CPT2)

    Description

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

    OMIM

    600649

    Gene

    CPT2

    Method

    Sanger sequencing

    Price

    € 460 Whole gene analysis
    € 240 Carrier analysis
    € 240 extra for Prenatal analysis

    TAT

    Postnatal analysis: 1 - 3 months
    Prenatal analysis: 2 - 3 weeks

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Glutaric aciduria type II See: Multiple Acyl-CoA Dehydrogenase Deficiency

    Description

    Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria II, can be caused by mutations in at least 3 different genes, including ETFA, ETFB and ETFDH.

    See for specifics the different pages for these genes:

    Multiple acyl-CoA dehydrogenase deficiency (ETFA)
    Multiple acyl-CoA dehydrogenase deficiency (ETFB)
    Multiple acyl-CoA dehydrogenase deficiency (ETFDH)

    OMIM

    231680

    Gene

    ETFA
    ETFB
    ETFDH

    Method

    Sanger sequencing

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (ACADM)

    Description

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

    OMIM

    201450

    Gene

    ACADM

    Method

    Sanger sequencing

    Price

    € 680 Whole gene analysis
    € 240 Carrier analysis
    € 240 extra for Prenatal analysis

    TAT

    Postnatal analysis: 1 - 3 months
    Prenatal analysis: 2 - 3 weeks

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Mitochondrial trifunctional protein (MTP) deficiency (HADHA, including LCHAD deficiency)

    Description

    The HADHA gene codes for the alpha subunit of the MTP complex, which harbors the long-chain enoyl-CoA hydratase and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) activities that catalyze the second and third step of the mitochondrial beta-oxidation pathway for long-chain fatty acids.

    OMIM

    609015

    Gene

    HADHA

    Method

    Sanger sequencing

    Price

    € 680 Whole gene analysis
    € 240 Carrier analysis
    € 240 extra for Prenatal analysis

    TAT

    Postnatal analysis: 1 - 3 months
    Prenatal analysis: 2 - 3 weeks

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Mitochondrial trifunctional protein (MTP) deficiency (HADHB)

    Description

    The HADHB gene codes for the beta subunit of the MTP complex, which harbors the long-chain 3-ketoacyl-CoA thiolase activity that catalyzes the last step of the mitochondrial beta-oxidation pathway for long-chain fatty acids.

    OMIM

    609015

    Gene

    HADHB

    Method

    Sanger sequencing

    Price

    € 680 Whole gene analysis
    € 240 Carrier analysis
    € 240 extra for Prenatal analysis

    TAT

    Postnatal analysis: 1 - 3 months
    Prenatal analysis: 2 - 3 weeks

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Multiple acyl-CoA dehydrogenase deficiency (ETFA)

    Description

    Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria II, can be caused by mutations in at least 3 different genes, including ETFA, encoding the alpha subunit of the mitochondrial electron transfer flavoprotein ETF.

    OMIM

    231680

    Gene

    ETFA

    Method

    Sanger sequencing

    Price

    € 680 Whole gene analysis
    € 240 Carrier analysis
    € 240 extra for Prenatal analysis

    TAT

    Postnatal analysis: 1 - 3 months
    Prenatal analysis: 2 - 3 weeks

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Multiple acyl-CoA dehydrogenase deficiency (ETFB)

    Description

    Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria II, can be caused by mutations in at least 3 different genes, including ETFB, encoding the beta subunit of the mitochondrial electron transfer flavoprotein ETF.

    OMIM

    231680

    Gene

    ETFB

    Method

    Sanger sequencing

    Price

    € 460 Whole gene analysis
    € 240 Carrier analysis
    € 240 extra for Prenatal analysis

    TAT

    Postnatal analysis: 1 - 3 months
    Prenatal analysis: 2 - 3 weeks

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Multiple acyl-CoA dehydrogenase deficiency (ETFDH)

    Description

    Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria II, can be caused by mutations in at least 3 different genes, including ETFDH, encoding the mitochondrial electron transfer flavoprotein dehydrogenase.

    OMIM

    231680

    Gene

    ETFDH

    Method

    Sanger sequencing

    Price

    € 680 Whole gene analysis
    € 240 Carrier analysis
    € 240 extra for Prenatal analysis

    TAT

    Postnatal analysis: 1 - 3 months
    Prenatal analysis: 2 - 3 weeks

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Short-chain acyl-CoA dehydrogenase (SCAD) deficiency (ACADS)

    Description

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

    OMIM

    201470

    Gene

    ACADS

    Method

    Sanger sequencing

    Price

    € 460 Whole gene analysis
    € 240 Carrier analysis

    TAT

    Postnatal analysis: 1 - 3 months

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts

    • Conditions: Room temperature.
    • Specifics: Grow cells in a T-25 flask (grow skin fibroblasts to ~ 80% confluent), fill the flask completely with sterile buffered (with 25mM HEPES) culture medium supplemented with serum and penicillin-streptomycin. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly with name of patient, date of birth and date of collection, wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.
    Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (ACADVL)

    Description

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

    OMIM

    201475

    Gene

    ACADVL

    Method

    Sanger sequencing

    Price

    € 680 Whole gene analysis
    € 240 Carrier analysis
    € 240 extra for Prenatal analysis

    TAT

    Postnatal analysis: 1 - 3 months
    Prenatal analysis: 2 - 3 weeks

    Materials:


    Genomic DNA

    • Conditions: Room temperature.
    • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Please complete the test request form and send it along with the sample.

    Whole blood

    • Conditions: Room temperature.
    • Specifics: 1-3 ml EDTA/Heparin blood 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. Please complete the test request form and send it along with the sample.

    Cultured skin fibroblasts, chorionic villi cells or amniocytes

    • Conditions: Room temperature.
    • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

    Chorionic villus sample

    • Conditions: Room temperature.
    • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.