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Paediatric Laboratory Medicine

FISH - Smith-Magenis Syndrome/Potocki Lupski Syndrome - Cultured Fibroblasts

Clinical Significance

OMIM 182290 - Smith-Magenis Syndrome

Test Name

FISH - Smith-Magenis Syndrome/Potocki Lupski Syndrome - Cultured Fibroblasts

Alternate Name/ Synonym

Microdeletion/Microduplication 17p11.2 Syndrome

Gene Name

  • RAI1 17p11.2

Division

Cytogenetics

Method

Cell culture; FISH (Fluorescence in situ hybridization)

External Proficiency Testing

CAP
QMPLS

Turn Around Time

4 weeks

Disease/Condition

Smith-Magenis Syndrome

Specimen Type

Tissue

Minimum Specimen Requirements

Minimum 2-3 mm3 fresh tissue (skin biopsy)

Storage/Transportation

Refrigerate until time of shipment. Ship sample overnight at room temperature for receipt at SickKids Cytogenetics Laboratory within 24 hours of collection

Special Requirements

Place in sterile container with SickKids Cytogenetics transport media or other sterile culture media

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