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.