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Paediatric Laboratory Medicine

Russel Silver Syndrome: UPD7 Analysis

Clinical Significance

The main feature of Russell-Silver syndrome (RSS) is low birth weight followed by continued growth delays after birth. Individuals with RSS typically have proportionately short stature and normal head circumference. Certain characteristic facial features may also be present (triangular face, down-turned angles of the mouth, prominent forehead, prominent nasal bridge and a small jaw). Other variable features may be seen in children with RSS (see For More Information). Some individuals with RSS will have many of the possible characteristics associated with RSS while others will have very few.

Test Name

Russel Silver Syndrome: UPD7 Analysis

Alternate Name/ Synonym

  • Silver-Russell syndrome

Division

Molecular Genetics

Method

UPD7 studies via STR (short tandem repeat) analysis

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)

Disease/Condition

  • Russell Silver Syndrome

Specimen Type

Blood; extracted DNA is not accepted for Russel Silver Syndrome: Methylation and Copy Number Analysis. Parental samples are required for UPD 7 testing.

If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD 0.5 mL EDTA (neonate); minimum 10 ug in 100 uL low TE (pH8.0)

Storage/Transportation

Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes

81402

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

Interpretation is provided in report

Information Sheet: Russell-Silver Syndrome