Russell Silver Syndrome

Alternate test name

Silver-Russell Syndrome

Gene name / Alternate gene name

H19
H19DMR

Protein

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

Lab area

Genome Diagnostics - Molecular Genetics

Method and equipment

Methylation-Specific-MLPA of imprinting center 1 (H19); UPD7 studies via STR (short tandem repeat) analysis. Parental samples are required for UPD7 testing.

Expected turn-around time

Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks

Specimen type

Blood; extracted DNA is not accepted for the MLPA portion of this test.

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

Specimen requirements

Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
DNA-minimum 10 ug in 100 uL low TE (pH8.0)

Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

DNA extracted at an external lab is not accepted for MS-MLPA testing.

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information

The Hospital for Sick Children

Division of Genome Diagnostics

555 University Avenue, Black Wing, Room 3416

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200 ext. 2

Hours: Monday to Friday, 8 a.m. to 4:30 p.m.

Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642

Email Molecular Lab: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Russell Silver Syndrome - requisition

Background and 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.

See related information sheet: Russell-Silver syndrome

Disease condition