Neurotransmitter defects

Aromatic L-amino acid decarboxylase deficiency (DDC)

Description

Aromatic L-amino acid decarboxylase or DOPA decarboxylase catalyzes the conversion of dopa and 5-hydroxytryptophan in dopamine and serotonin, respectively.

OMIM

608643

Gene

DDC

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.
GTP cyclohydrolase I deficiency (GCH1)

Description

GTP cyclohydrolase I catalyzes the conversion of GTP to D-erythro-7,8-dihydroneopterin triphosphate, the first and rate-limiting step in tetrahydrobiopterin (BH4) biosynthesis. A deficiency is associated with dopa-responsive dystonia.

OMIM

233910

Gene

GCH1

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.
Tyrosine hydroxylase deficiency (TH)

Description

Tyrosine hydroxylase is involved in the conversion of phenylalanine to dopamine, the rate-limiting step in the synthesis of catecholamines. A deficiency is associated with dopa-responsive dystonia.

OMIM

191290

Gene

TH

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.