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Paediatric Laboratory Medicine

Late Replication Analysis

Clinical Significance

Clinical effects of a rearranged X chromosome may be minimized or emphasized by skewed X chromosome inactivation.

Test Name

Late Replication Analysis

Alternate Name/ Synonym

X chromosome inactivation analysis

Gene Name

  • X chromosome

Division

Cytogenetics

Method

3 day culture with addition of Bromodeoxyuridine; FISH (Fluorescence in situ hybridization)

External Proficiency Testing

NA

Turn Around Time

4 weeks

Disease/Condition

X chromosome rearrangements

Specimen Type

Peripheral blood

Minimum Specimen Requirements

Blood at room temperature in sodium heparin
Volume: 0-3 months  1-3 mL
                3 months-12 years: 3-6 mL
                12 years - adult: 6 mL

Storage/Transportation

Maintain at room temperature. Do not refrigerate or freeze.

Special Requirements

Collect in sodium heparin tube.
Approval required from Director in advance of sample submission.

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Interpretation

Provided