Home
HelpRussell Silver Syndrome (RSS)
Clinical System Name
Miscellaneous Genetic Test
Synonyms
H19 methylation
UPD7
Sample Requirements
Preferred specimen type: Whole Blood
Specimen: Whole Blood
Container(s): 2 Lavender/EDTA
Preferred Vol: 4.0 mL per Lavendar/EDTA tube ~8mL total
Minimum Vol: Infants/newborn: 2 EDTA tube (lavender top) of blood – approximately 1-2 mL per tube
Specimen: Extracted DNA
Container(s): Sterile plastic tube
Preferred Vp; 3-4ug of previously isolated DNA at a concentration of 100-200 ng/uL.
Alternative Specimen (e.g. saliva or buccal): Alternate Specimen Collection Kits for Genetic Testing
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery
Processing Instructions
Reject due to:
Spin: N
Aliquot: N
Temp: 2 - 4 C
Storage location: Do not spin. Deliver blood to the Send Outs refrigerator rack.
Off-site collection:
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood | Room temp |
3 d |
| Refrigerated | 7 d | |
| Frozen | Unacceptable | |
| Extracted DNA | Room temp | 3-4 d |
| Refrigerated | 1 y | |
| Frozen | Indefinitely |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | Drawn daily | 4-6 w |
Performing Laboratory
University of Pennsylvania (UPenn)
Genetic Diagnostic Laboratory
University of Pennsylvania
Room 560 Clinical Research Building
415 Curie Boulevard
Philadelphia, PA 19104
Department
Department: Send Outs/Genetic
Phone: (206) 987-2563
Methodology
Methylation and high resolution copy number analysis of 11p15.5 with automatic reflex to UPD7 if negative
Reference Range
Interpretive report provided.
Clinical Utility
Russell-Silver syndrome is a genetically heterogeneous condition. Genetic testing confirms clinical diagnosis in approximately 60% of affected individuals. Hypomethylation of the imprinting control region 1 (ICR1) at 11p15.5 causes Russell-Silver in 35%-67% of individuals, and maternal uniparental disomy of chromosome 7 (upd(7)mat) causes Russell-Silver in 7%-10% of individuals. There are a small number of individuals with Russell-Silver who have duplications, deletions, or translocations involving the imprinting centers at 11p15.5 or duplications, deletions, or translocations involving chromosome 7. Rarely, affected individuals with pathogenic variants in CDKN1C, IGF2, PLAG1, and HMGA2 have been described.
Special Instructions
Send Out Instructions
| Reference Test Name: | Methylation and high resolution copy number analysis of 11p15.5 with automatic reflex to UPD7 if negative |
| Reference Test Number: |
|
| Instructions: |
Send within FIVE days of collection at room temperature via FedEx Priority Overnight shipping. Samples are received Monday - Friday AM. U Penn does NOT accept Saturday delivery. If sample is drawn on a Friday, please refrigerate it until shipment on the following business day. |