Congenital Hyperinsulinism (CHI)

Forms

*Please open the forms in Adobe Acrobat before printing.

For ALL requests, except the expanded congenital hyperinsulinism panel, please contact the laboratory prior to sending a sample.

Phone: 215-573-9161

Email: gdllab@pennmedicine.upenn.edu

Billing Information and Turnaround Time

*Reflex testing options: Maximum cost is listed, although our lab only bills for the services performed. The final charge may be less than the listed price, but cannot be determined until the testing has been completed.

Name of TestTurnaround TimeCostCPT Codes
Level 1 Congenital Hyperinsulinism Panel: ABCC8, KCNJ11, GLUD1, GCK7-10 days280081407, 81403, 81406x2
Level 2 Congenital Hyperinsulinism Panel: ABCC8, KCNJ11, GLUD1, GCK, SLC16A1, UCP2, HNF1A, HNF4A, HADH4-6 weeks300081479
ABCC8 Sequencing2-3 weeks100081407
KCNJ11 Sequencing2-3 weeks60081403
GLUD1 Sequencing2-3 weeks70081406
GCK Sequencing2-3 weeks70081406
Deletion/Duplication analysis3 weeks75081479
Site specific analysis (familial)7-10 days36081403
Site specific analysis (familial) (Prenatal)1-3 weeks46081403, 81265

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 couriers that guarantees AM delivery to arrive Monday-Friday. There is no one in the laboratory evenings and weekends to receive samples. If the sample is drawn on a Friday, please refrigerate it until shipment on the following business day.

Shipping Address

Genetic Diagnostic Laboratory
University of Pennsylvania
Room 560 Clinical Research Building
415 Curie Boulevard
Philadelphia, PA 19104

Top