Other diseases

Chitotriosidase deficiency (CHIT1)

Description

Chitotriosidase deficiency can be caused by a commonly occurring c.1049_1072 duplication in the CHIT1 gene. Plasma chitotriosidase activity is used for diagnostis and therapeutic monitoring in Gaucher disease.

OMIM

614122

Gene

CHIT1

Method

Sanger sequencing

Price

€ 240 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.
Cytosolic iron-sulfur assembly component 1 (CIAO1)

Description

The cytosolic iron-sulfur protein assembly protein CIAO1 is a key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins.

OMIM

604333

Gene

CIAO1

Method

Sanger sequencing

Price

€ 680 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.
Neuraminidase deficiency (NEU1)

Description

Neuraminidase deficiency, also known as sialidosis or mucolipidosis type I, is caused by a deficiency of N-acetyl-α-D-neuraminidase. N-acetyl-α-D-neuraminidase, encoded by NEU1, cleaves sialyl linkages of several oligosaccharides and glycoproteins.

OMIM

608272

Gene

NEU1

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, 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.
Rhabdomyolysis, acute recurrent (LPIN1)

Description

Acute recurrent rhabdomyolysis/myoglobinuria is caused by mutations in the LPIN1, which encodes a Mg(2+)-dependent phosphatidic acid phosphohydrolase that catalyzes the dephosphorylation of phosphatidic acid to yield diacylglycerol and inorganic phosphate.

OMIM

268200

Gene

LPIN1

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.
Sjögren-Larsson syndrome (ALDH3A2 (ALDH10))

Description

Sjögren-Larsson syndrome is caused by a deficiency of Alcohol:NAD+ oxidoreductase (FALDH), which catalyzes the oxidation of fatty alcohols to the corresponding fatty acids in two subsequent reactions.

OMIM

270200

Gene

ALDH3A2 (ALDH10)

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.