Hemophilia A and B


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Billing Information and Turnaround Time

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

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 $750 81406
Hemophilia A (Factor VIII): Familial Mutation 2-3 weeks $360 81403
Hemophilia A (Factor VIII): Known Mutation: Inversion, Seq. or del/dup (Prenatal) 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): Familial Mutation (Prenatal) 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

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