IMAGe Syndrome

Forms

*Please open the forms in Adobe Acrobat before printing.


Billing Information and Turnaround Time

Name of Test Turnaround Time Cost CPT Codes
IMAGe syndrome: CDKN1C sequencing 4-6 weeks $600 81404
IMAGe syndrome: known familial mutation 2-3 weeks $360 81403
IMAGe syndrome: prenatal diagnosis 1-3 weeks $700*
$460*
81404, 81265 (suspected mutation)
81403, 81265 (known mutation)
*All prenatal tests include MCC studies

Sample Requirements

  • We require 2 EDTA tubes (lavender top) of blood - approximately 4 mL per tube
  • For a newborn sample, obtain 2 EDTA tube (lavender top) of blood - approximately 1-2 mL per tube
  • Label each tube with the patient’s name, date sample was obtained, and patient’s date of birth
  • We accept banked or recently extracted DNA; please include the concentration. Please call the laboratory to inquire about the amount needed for testing.

Please see our prenatal section for information on prenatal requirements.

Shipping Instructions

Shipping Sample: Ship at room temperature via Federal Express or other overnight courier that guarantees AM delivery to arrive Monday-Friday. There is no one in the laboratory evenings and weekends to receive samples. If sample is drawn on a Friday, please refrigerate it until shipment on the following business day.

Shipping Address:
Genetic Diagnostic Laboratory
University of Pennsylvania
415 Anatomy–Chemistry Building
3620 Hamilton Walk
Philadelphia, PA 19104

Additional Information

OMIM

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