Carbohydrate metabolism defects
Fructose intolerance, hereditary (Aldolase B deficiency) (ALDOB)
Description
Fructose-1,6-bisphosphate aldolase, or aldolase B, is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate.
OMIM
229600
Gene
ALDOB
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.
Galactokinase deficiency (GALK1)
Description
Galactokinase catalyzes the first step in the degradation of galactose. Galactokinase deficiency is also called Galactosemia type 2.
OMIM
230200
Gene
GALK1
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.
Galactosemia type 1 (Galactose-1-phosphate uridyltransferase deficiency) (GALT)
Description
Galactose-1-phosphate uridyltransferase catalyzes the second step in the degradation of galactose.
OMIM
230400
Gene
GALT
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.
Glycogen storage disease 0 (GYS2)
Description
Glycogen storage disease 0 is caused by a deficiency of the liver-specific glycogen synthase-2, which catalyzes the rate-limiting step in glycogen synthesis.
OMIM
240600
Gene
GYS2
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.
Phosphoglycerate mutase deficiency, muscle (PGAM2)
Description
Muscle-specific phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene encoding muscle-specific phosphoglycerate mutase. The disorder is also known as glycogen storage diseases X (GSD10).
OMIM
261670
Gene
PGAM2
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.
