Factor IX (9) Duplication/Deletion Analysis by MLPA - Machaon Diagnostics
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Factor IX (9) Duplication/Deletion Analysis by MLPA

Justification

Hemophilia B is due to mutations in the Factor IX (9) gene. Knowing the mutation can inform likelihood of inhibitor development, bleeding severity, family planning, and pregnancy and neonatal management. Over 10% of severe hemophilia B cases are due to large deletion or duplication variants which are very difficult to detect via sequencing.

STAT: < 48 hours (M-F)

MLPA

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 MLPA
STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 5 days (M-F)
ALTERNATIVE NAMES Hemophilia B, FIX (9) copy number variant (CNV) analysis
DESCRIPTION This test looks for deletions or duplications within the F9 gene by multiplex ligation-dependent probe amplification (MLPA), a method with much higher resolution than next-generation sequencing or microarrays.
LIMITATIONS This test detects deletions and duplications but not balanced structural variants (i.e., inversions, insertions or translocations). This test requires two consecutive probes indicating a deletion or duplication to make a CNV call.
NORMAL RANGE Interpretation: Negative
ASSOCIATED TESTING -
REFERENCES

Johnsen JM, et al. Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. Blood Adv. 2017 May 18;1(13):824-834.
SAMPLE REPORT Upon request
NEW YORK STATE APPROVED No

Test Codes

ORDER CODE P3399
CPT CODE 81479
LOINC CODE 93811-8