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Factor VIII (8) Deletion/Duplication Analysis by MLPA

Justification

Hemophilia A is due to mutations in the F8 gene. Knowing the mutation can inform likelihood of inhibitor development, bleeding severity, family planning, and pregnancy and neonatal management. Over 5% of severe hemophilia A 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
Frozen (-20C): 2 weeks
Frozen (-80C): 6 months
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 A, FVIII (8) copy number variant (CNV) analysis
DESCRIPTION This test looks for deletions or duplications within the F8 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 and translocations). This test does not detect the recurrent inversions in intron 1 or intron 22 that account for about half of severe hemophilia A cases. 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 -

Test Codes

ORDER CODE P3392
CPT CODE 81479
LOINC CODE 94234-2