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Lab Dept:
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Anatomic Pathology
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Test Name:
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RUSSELL SILVER SYNDROME: H19 METHYLATION AND UPD7
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General Information
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Lab Order Codes:
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RSSP
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Synonyms:
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N/A
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CPT Codes:
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83891 – Isolation or extraction of highly purified nucleic acid 83894 x2 – Separation by gel electrophoresis, each nucleic acid
83898 x3 – Amplification of patient nucleic acid, each nucleic acid sequence
83896 x2 – Nucleic acid probe, each
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Test Includes:
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Testing for H19 Methylation and UPD7
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Logistics
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Test Indications:
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This test is indicated for individuals with a clinical diagnosis of RSS; Individuals with limb asymmetry combined with prenatal and postnatal growth delay.
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Lab Testing Section:
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Anatomic Pathology - Sendouts
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Referred to:
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Emory Genetics Laboratory (Emory Test code: NZ)
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Phone Numbers:
Minneapolis:
Saint Paul:
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612-813-6280
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651-220-6550
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Test Availability:
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Daily, 24 hours
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Turnaround Time:
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3 weeks
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Special Instructions:
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A complete Emory General Test Requisition form: http://genetics.emory.edu/egl/orders/index.php/1124 (check Russel Silver Panel: H19 Methylation & UPD7 test in the Growth Disorders section)
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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Children <2 yrs of age: 3 – 5 mL blood Older children & adults: 5 – 10 mL blood
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Processed Volume:
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1 – 10 mL whole blood
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Collection:
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Routine venipuncture
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Special Processing:
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Lab Staff: Do Not Centrifuge. Specimen should remain in the original collection container. Store refrigerated until shipment. Ship overnight at room temperature to Emory Genetics Laboratory. Forward promptly.
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Patient Preparation:
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None
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Sample Rejection:
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Mislabeled or unlabeled specimens.
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Interpretive
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Reference Range:
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Interpretive report
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Methodology:
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Quantitative methylation sensitive PCR (Q-MSP)
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References:
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Emory Genetics Laboratory January 2012
(800) 366-1502 Fax: (404) 778-8559
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