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Paediatric Laboratory Medicine

FISH - Smith-Magenis Syndrome/Potocki-Lupski Syndrome - Peripheral Blood

Clinical Significance

OMIM 182290 - Smith-Magenis syndrome
OMIM 610883 - Potocki-Lupski syndrome

Test Name

FISH - Smith-Magenis Syndrome/Potocki-Lupski Syndrome - Peripheral Blood

Alternate Name/ Synonym

Microdeletion/Microduplication 17p11.2 Syndrome

Gene Name

  • RAI1 17p11.2

Division

Cytogenetics

Method

3 day PHA-stimulated thymidine-synchronized culture; FISH (Fluorescence in situ hybridization)

External Proficiency Testing

CAP
QMPLS

Turn Around Time

4 weeks for routine
5-9 working days for expedite

Disease/Condition

Smith-Magenis Syndrome, Potocki-Lupski Syndrome

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

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