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HelpRussell Silver Syndrome (RSS)
Clinical System Name
Miscellaneous Genetic Test
Synonyms
H19 methylation
UPD7
Description
Methylation and deletion/duplication analysis to analyze genetic causes of Russell-Silver Syndrome performed at UPenn.
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-sensitive qPCR (quantitative polymerase chain reaction), array CGH (comparative genomic hybridization, and SNP array (single nucleotide polymorphism)
Reference Range
Interpretive report provided.
Clinical Utility
A genetic diagnosis may have implications for treatment, management, recurrence risk, and family member testing.
Send Out Instructions
| Reference Test Name: | |
| Reference Test Number: |
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| 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. |