Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

RUSSELL SILVER SYNDROME: H19 METHYLATION AND UPD7

General Information

Lab Order Codes:

RSSP

Synonyms:

N/A

CPT Codes:

81401 – Molecular Pathology, Level 2
81402 – Molecular Pathology, Level 3

Test Includes:

Testing for H19 Methylation and UPD7

Logistics

Test Indications:

This test is indicated for individuals with a clinical diagnosis of RSS; Individuals with limb asymmetry combined with prenatal and postnatal growth delay.

Lab Testing Section:

Anatomic Pathology - Sendouts

Referred to:

Emory Genetics Laboratory (Emory Test code: NZ)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

3 weeks

Special Instructions:

A complete Emory General Test Requisition form: http://genetics.emory.edu/egl/orders/index.php/1124 (check Russell Silver Panel: H19 Methylation & UPD7 test in the Growth Disorders section)

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

Children <2 yrs of age: 3 – 5 mL blood Older children & adults: 5 – 10 mL blood

Processed Volume:

1 – 10 mL whole blood

Collection:

Routine venipuncture

Special Processing:

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.

Patient Preparation:

None

Sample Rejection:

Mislabeled or unlabeled specimens.

Interpretive

Reference Range:

Interpretive report

Methodology:

Quantitative methylation sensitive PCR (Q-MSP)

References:

Emory Genetics Laboratory January 2012
(800) 366-1502 Fax: (404) 778-8559



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