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Factor XIII (13) Genetic Panel

Justification

Factor XIII deficiency is an autosomal recessive disorder that results in internal bleeding, including brain hemorrhaging, following even mild trauma. Continued bleeding may lead to formation of large cysts that may damage bone and nerves. Infants born with Factor XIII deficiency may bleed from the umbilical cord. Affected females have high risk for miscarriage if not receiving treatment, while affected males may be sterile. Treatment includes infusion of fresh or frozen blood or Factor XIII concentrates.

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 XIII (13), F13A1 gene sequencing, F13B gene sequencing
DESCRIPTION This test sequences the exons plus 5bp of the flanking introns of F13A1 and F13B. Sanger sequencing may be used to confirm variants as needed. Factor 13 deficiency is very rare, with an estimated prevalence less than 1 per million. Mutation of the A subunit of factor XIII is found in most patients with XIII deficiency; mutation of the B subunit is rarer. The F13A1 and F13B genes encode the two subunits which come together to form the F13 protein.
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

Biswas A, et al. An update of the mutation profile of Factor 13 A and B genes. Blood Rev. 2011 Sep;25(5):193-204.
SAMPLE REPORT Upon request
NEW YORK STATE APPROVED No

Test Codes

ORDER CODE P3369
CPT CODE 81479x2
LOINC CODE 92991-9