Peroxisomal defects (PDs)

Acyl-CoA oxidase deficiency (ACOX1)

Description

Acyl-CoA oxidase is the first enzyme of the peroxisomal beta-oxidation pathway for straight-chain fatty acids.

OMIM

264470

Gene

ACOX1

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.

Alpha-methylacyl-CoA racemase deficiency (AMACR)

Description

Alpha-methylacyl-CoA racemase is required for the peroxisomal beta-oxidation of branched-chain fatty acids, including pristanic acid and C27-bile acid intermediates.

OMIM

604489

Gene

AMACR

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.
D-bifunctional protein deficiency (HSD17B4 (MFE2))

Description

D-Bifunctional protein catalyzes the second and third step of the peroxisomal beta-oxidation of straight-chain fatty acids and branched-chain fatty acids, including pristanic acid and C27-bile acid intermediates.

OMIM

261515

Gene

HSD17B4

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.
Hyperoxaluria type I, Primary (AGXT)

Description

Hyperoxaluria type I is caused by a deficiency of the liver-specific Alanine:glyoxylate aminotransferase, which catalyzes the transamination of glyoxylate to glycine.

OMIM

259900

Gene

AGXT

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.
Hyperoxaluria type II, Primary (GRHPR)

Description

Hyperoxaluria type 2 is caused by mutations in the GRHPR gene encoding glyoxylate reductase/hydroxypyruvate reductase.

OMIM

260000

Gene

GRHPR

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.
Hyperoxaluria type III, Primary (HOGA1)

Description

Hyperoxaluria type 3 is caused by mutations in the HOGA1 gene encoding mitochondrial 4-hydroxyl-2-oxoglutarate aldolase, which catalyzes the final step in the metabolic pathway of hydroxyproline, producing glyoxylate and pyruvate.

OMIM

613616

Gene

HOGA1

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.
Refsum Disease (PEX7)

Description

In some cases, Refsum Disease is caused by mutations in the PEX7 gene, encoding the import receptor for PTS2-targeted peroxisomal enzymes.

OMIM

614879

Gene

PEX7

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.
Refsum Disease (PHYH)

Description

In the majority of cases, Refsum Disease is caused by a deficiency of phytanoyl-CoA hydroxylase, the first enzyme of the peroxisomal alpha-oxidation.

OMIM

266500

Gene

PHYH

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.
Rhizomelic chondrodysplasia punctata (RCDP) type 1 (PEX7 deficiency) (PEX7)

Description

Rhizomelic chondrodysplasia punctata (RCDP) type I is caused by mutations in the PEX7 gene, encoding the import receptor for PTS2-targeted peroxisomal enzymes.

OMIM

215100

Gene

PEX7

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.
Rhizomelic chondrodysplasia punctata (RCDP) type 2 (DHAPAT deficiency) (NGPAT/DHAPAT)

Description

Rhizomelic chondrodysplasia punctata (RCDP) type 2 is caused by a deficiency of dihydroxyacetonephosphate-acyltransferase (DHAPAT), the first enzyme in the etherphospholipid (plasmalogen) biosynthesis route.

OMIM

222765

Gene

DHAPAT

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.
Rhizomelic chondrodysplasia punctata (RCDP) type 3 (alkyl-DHAP synthase deficiency) (AGPS)

Description

Rhizomelic chondrodysplasia punctata (RCDP) type 3 is caused by a deficiency of alkyl-DHAP synthase, the second enzyme in the etherphospholipid (plasmalogen) biosynthesis route.

OMIM

600121

Gene

AGPS

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.
X-linked adrenoleukodystrophy (ABCD1)

Description

X-linked adrenoleukodystrophy is caused by mutations in the ABCD1 gene, encoding a half ABC-transporter located in the peroxisomal membrane and required for peroxisomal import of straight very-long-chain fatty acids.

OMIM

300100

Gene

ABCD1 (ALD)

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.
Zellweger Spectrum (Complementation Testing)

Description

Zellweger Spectrum disorders include Zellweger Syndrome, Neonatal AdrenoLeukoDystrophy (NALD) and Infantile Refsum Disease (IRD) and can be caused by mutations in any of at least 12 different PEX genes resulting in a defect in peroxisome biogenesis. Complementation testing requires skin fibroblasts from Zellweger spectrum disorder patients and allows the rapid identification of the defective PEX gene, which then can be sequenced. Before complementation testing can be performed, peroxisome deficiency has to be confirmed by catalase immunofluorescence microscopy analyses and very long-chain fatty acid analysis.

OMIM

214100

Gene

Complementation Testing

Method

Functional complentation

Price

€ 680

TAT

Postnatal analysis: 1 - 3 months

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% 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 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.
Zellweger Spectrum disorder (PEX1)

Description

The PEX1 gene codes for peroxin-1, a protein involved in peroxisomal matrix protein import. Mutations in the PEX1 gene are the most frequent cause for a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

602136

Gene

PEX1

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.
Zellweger Spectrum disorder (PEX2)

Description

The PEX2 gene codes for peroxin-2, a protein involved in peroxisomal matrix protein import. Mutations in the PEX2 gene result in a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

170993

Gene

PEX2

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.
Zellweger Spectrum disorder (PEX3)

Description

The PEX3 gene codes for peroxin-3, a protein involved in peroxisomal membrane protein import. Mutations in the PEX3 gene result in a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

603164

Gene

PEX3

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.
Zellweger Spectrum disorder (PEX5)

Description

The PEX5 gene codes for peroxin-5, encoding the import receptor for PTS1-targeted peroxisomal enzymes. Mutations in the PEX5 gene result in a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

600414

Gene

PEX5

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.
Zellweger Spectrum disorder (PEX6)

Description

The PEX6 gene codes for peroxin-6, a protein involved in peroxisomal matrix protein import. Mutations in the PEX6 gene are the second most frequent cause for a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

601498

Gene

PEX6

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.
Zellweger Spectrum disorder (PEX10)

Description

The PEX10 gene codes for peroxin-10, a protein involved in peroxisomal matrix protein import. Mutations in the PEX10 gene result in a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

602859

Gene

PEX10

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.
Zellweger Spectrum disorder (PEX11β)

Description

The PEX11β gene codes for peroxin-11β, a protein involved in peroxisomal matrix protein import. Mutations in the PEX11β gene result in a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

603867

Gene

PEX11β

Method

Sanger sequencing

Price

€ 240 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.
Zellweger Spectrum disorder (PEX12)

Description

The PEX12 gene codes for peroxin-12, a protein involved in peroxisomal matrix protein import. Mutations in the PEX12 gene result in a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

601758

Gene

PEX12

Method

Sanger sequencing

Price

€ 240 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.
Zellweger Spectrum disorder (PEX13)

Description

The PEX13 gene codes for peroxin-13, a protein involved in peroxisomal matrix protein import. Mutations in the PEX13 gene result in a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

601789

Gene

PEX13

Method

Sanger sequencing

Price

€ 240 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.
Zellweger Spectrum disorder (PEX14)

Description

The PEX14 gene codes for peroxin-14, a protein involved in peroxisomal matrix protein import. Mutations in the PEX14 gene result in a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

601791

Gene

PEX14

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.
Zellweger Spectrum disorder (PEX16)

Description

The PEX16 gene codes for peroxin-16, a protein involved in peroxisomal membrane protein import. Mutations in the PEX16 gene result in a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

603360

Gene

PEX16

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.
Zellweger Spectrum disorder (PEX19)

Description

The PEX19 gene codes for peroxin-19, a protein involved in peroxisomal membrane protein import. Mutations in the PEX19 gene result in a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

600279

Gene

PEX19

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.
Zellweger Spectrum disorder (PEX26)

Description

The PEX26 gene codes for peroxin-26, a protein involved in peroxisomal matrix protein import. Mutations in the PEX62 gene result in a peroxisome biogenesis disorder (Zellweger Spectrum disorder).

OMIM

608666

Gene

PEX26

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.