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.

Congenital Hyperinsulinism (CHI) Test Billing Information and Turnaround Time
Name of Test Turnaround Time Cost CPT Codes
Expedited Level 1 CHI panel: ABCC8, KCNJ11, GCK 7-10 days $3360 81407, 81403, 81406, 81479, 99199
Expanded Level 2 CHI Panel: (ABCC8, KCNJ11, GLUD1, GCK, HNF1A, HNF4A, HADH, SLC16A1, UCP2,
NSD1, NFIX, KMT2D, KDM6A, PMM2, PGM1, FOXA2, AKT2, INSR, HK1)
4-6 weeks $2820 81479x3
HI: Site specific analysis (familial) 2-3 weeks $520 81403
HI: Site specific analysis (familial) (Prenatal) 7-10 days $764 81403, 81265, 99199
Sequence Analysis of intron 2 region of the HK1 gene 2-3 weeks $520 81403

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