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Paediatric Laboratory Medicine

Russel Silver Syndrome: Methylation and Copy Number 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: Methylation and Copy Number Analysis

Alternate Name/ Synonym

  • Silver-Russell syndrome

Gene Name

  • H19

Alternate Gene Name

H19DMR

Division

Molecular Genetics

Method

Methylation-Specific-MLPA of imprinting center 1 (H19)

External Proficiency Testing

CAP

Turn Around Time

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

Protein

H19, imprinted maternally expressed transcript (non-protein coding)

Disease/Condition

  • Russell Silver Syndrome

Specimen Type

Blood; extracted DNA is not accepted for this test.

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)

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

81401

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