Congenital Hyperinsulinism (CHI)
Forms
- CHI Info Sheet
- CHI Sample Requirements
- CHI Sample Requirements – Prenatal
- CHI Proband Request Form
- CHI Parent Request Form
*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 Test | Turnaround Time | Cost | CPT Codes |
---|---|---|---|
Level 1 Congenital Hyperinsulinism Panel: ABCC8, KCNJ11, GCK | 7-10 days | 2800 | 81407, 81403, 81406x2 |
Level 2 Congenital Hyperinsulinism Panel: 19 genes | 4-6 weeks | 3000 | 81479 |
ABCC8 Sequencing | 2-3 weeks | 1000 | 81407 |
KCNJ11 Sequencing | 2-3 weeks | 600 | 81403 |
GLUD1 Sequencing | 2-3 weeks | 700 | 81406 |
GCK Sequencing | 2-3 weeks | 700 | 81406 |
Deletion/Duplication analysis | 3 weeks | 750 | 81479 |
Site specific analysis (familial) | 7-10 days | 360 | 81403 |
Site specific analysis (familial) (Prenatal) | 1-3 weeks | 460 | 81403, 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