Hemophilia A and B


*Please open the forms in Adobe Acrobat before printing.

Billing Information and Turnaround Time

Name of Test Turnaround Time Cost CPT Codes
Hemophilia A (Factor VIII): Inversion Analysis 3-4 weeks $360 81403
Hemophilia A (Factor VIII): Full Sequencing 4-6 weeks $1,350 81407
Hemophilia A (Factor VIII): Deletion/Duplication 2-3 weeks $560 81406
Hemophilia A (Factor VIII): Familial Mutation 2-3 weeks $360 81403
Hemophilia A (Factor VIII): Prenatal Diagnosis of Known Mutation: Inversion, Seq. or del/dup 7-10 days $460* 81403, 81265 for prenatal inversion
81403, 81265 for prenatal sequencing
Hemophilia A (Factor VIII): Linkage Analysis 3-4 weeks $740 81479
Name of Test Turnaround Time Cost CPT Codes
Hemophilia B (Factor IX): Full Sequencing 4-6 weeks $840 81405
Hemophilia B: Promoter Analysis only for Factor IX Leyden 3-4 weeks $360 81404
Hemophilia B (Factor IX): Familial Mutation 2-3 weeks $360 81403
Hemophilia B (Factor IX): Prenatal Diagnosis of Known Mutations 7-10 days $460* 81403, 81265
*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 patientís name, date sample was obtained, and patientís 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

Hemophilia A - OMIM
Hemophilia B - OMIM

Back to top ↑