Ordering Recommendation

Prenatal testing for hemophilia A caused by a familial F8 gene intron 22-A or intron 1 inversion.

New York DOH Approval Status

This test is not New York state approved. Due to short specimen stability it is recommended that this testing be submitted directly to a New York state-approved laboratory. Do not submit sample to ARUP.

Specimen Required

Patient Preparation
Collect

Fetal Cultured Amniocytes or Cultured CVS AND Maternal Whole Blood Specimen: Lavender (EDTA) or yellow (ACD solution A or B).

Specimen Preparation

Cultured Amniocytes or Cultured CVS: Transfer cultured amniocytes or cultured CVS to two T-25 flasks at 80 percent confluence: (Min: one T-25 flask at 80 percent confluence). Backup cultures must be retained at the client's institution until testing is complete. If ARUP receives a sample below the minimum confluence, Cytogenetics Grow and Send (ARUP test code 0040182) will be added on by ARUP, and additional charges will apply. If clients are unable to culture specimens, Cytogenetics Grow and Send should be added to initial order.
Maternal Whole Blood Specimen: Transport 2 mL whole blood (Min: 1 mL)

Storage/Transport Temperature

Preferred transport temp: Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of collection due to viability of cells.
Maternal Whole Blood Specimen: Room temperature.

Unacceptable Conditions
Remarks

Counseling and informed consent are recommended for genetic testing. Consent forms are linked above.
New York Clients: informed consent is required with submission.

Stability

Cultured Amniocytes or Cultured CVS: Room temperature: 2 days; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Whole Blood Specimen: Room temperature: 1 week; Refrigerated: 1 month; Frozen: Unacceptable

Methodology

Inverse Polymerase Chain Reaction / Electrophoresis

Performed

Varies

Reported

9-10 days
If culture is required, an additional 1 to 2 weeks is required for processing time.

Reference Interval

Refer to report

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81403; 81265 Fetal Cell Contamination (FCC)

Components

Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
2001758 F8 INV FE Specimen 31208-2
2001761 Hemophilia A (F8) Inversions Interp 82343-5
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Fetal Carrier Detection of Hemophilia A
  • Fetal DNA Analysis for Hemophilia A
  • Fetal Factor VIII Deficiency assay
  • Fetal Hemophilia A Carrier Detection and Prenatal Diagnosis
Hemophilia A (F8) 2 Inversions, Fetal