Molecular Genetics Laboratory

Laboratory Update

Testing for the Noonan spectrum of disorders is now available at The Children’s Hospital of Philadelphia Molecular Genetics Laboratory.

Hereditary Persistance of Fetal Hemoglobin (HBG1 & HBG2)

    Collect

    Collect whole blood in a purple top (EDTA) tube.

    Volume Required

    5mL

    Minimum Required

    3mL

    Transport

    Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.

    Stability

    Whole blood can be refrigerated until shipment.

    Unacceptable conditions

    Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.

    Specimen Handling

    Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.

Days Performed

Mon - Fri 9:00am to 4:00pm

Reported

Sequence Analysis- 3-4 weeks; Known Point Mutation- 2-3 weeks

CPT

Sequence Analysis - 81479; Known Point Mutation - 81479

Disease Information

Results:

Test results with interpretation will be mailed and/or faxed to the referring physician or send out lab following completion of the test. Additional reports will be provided as requested.

Remarks

Whole blood in EDTA purple top tubes is the preferred sample. High molecular weight genomic DNA, cheek epithelial cells, or other samples containing DNA may be acceptable. Contact the laboratory for specific instructions regarding such samples before sending the sample.

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