Test Directory

Home Test Search Results Factor IX (9) Gene Sequencing Assay
Factor IX (9) Gene Sequencing Assay

Justification

The type of mutation correlates with disease severity and likelihood of inhibitor formation. Mutation detection can confirm the diagnosis when the traditional lab workup is muddied by complicating factors like inflammation, stress, infection, hormone replacement therapy, age, acute phase response, menstrual cycle, pregnancy, exercise, ABO blood type, or lupus anticoagulant.

STAT: < 48 hours (M-F)

NGS

Draw Tube: Purple Top

Sample Type: EDTA Whole Blood

DRAW KITS AVAILABLE

Specimen Requirements

Sample Type Volume Required Minimum Volume Stability
PREFERRED EDTA Whole Blood 3mL 1mL Room Temp.: 1 month
Refrigerated: 1 month
ALTERNATIVE Cheek swab 2 swab - Room Temp.: 1 month
Refrigerated: 1 month
REJECTION CRITERIA Sample contamination; sample compromised
SPECIAL INSTRUCTIONS -

General Information

METHODOLOGY NGS
STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 5 days (M-F)
ALTERNATIVE NAMES Factor 9, F9, Factor IX, FIX, Hemophilia B, Christmas disease
DESCRIPTION This test sequences the exons plus 5bp of the flanking introns of F9, plus deep intronic and promoter mutations that have been associated with disease. Sanger sequencing may be used to confirm variants as needed. Hemophilia B has a prevalence of 1:25000.
LIMITATIONS This test will not detect variants located outside of the targeted DNA regions. This test is not optimized to detect chimerism or somatic mosaicism. This test will detect small indels but may miss larger deletions or duplications. Balanced structural variants will not be detected unless specifically targeted by a custom PCR assay.
NORMAL RANGE Interpretation: Negative
ASSOCIATED TESTING -
REFERENCES

1.) Santagostino E and Fasulo MR. Semin Thromb Hemost 2013;39(7):697-701;
2.) Aledort LM, Coates J. Am J Hematol. 2005 Jun;79(2):172-3.
3.) Lillicrap D and James, P. World Federation of Hemophilia 2009; No. 47.
SAMPLE REPORT Upon request
NEW YORK STATE APPROVED No

Test Codes

ORDER CODE P3389
CPT CODE 81238
LOINC CODE 93811-8