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Plasminogen Gene Sequencing

Justification

Plasminogen is a single chain glycoprotein zymogen and is the precursor of the fibrinolytic enzyme plasmin. Plasminogen deficiencies are classified as hypoplasminogenemia (type I) or dysplasminogenemia (type 2) and are associated with decreased extracellular fibrin clearance leading to mucous membrane lesions and ligneous conjunctivitis.

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 PLG genetic sequencing, plasminogen deficiency
DESCRIPTION This test sequences the exons plus 5bp of the flanking introns of the PLG gene. Sanger sequencing may be used to confirm variants as needed.
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

Mehta R, Shapiro AD. Plasminogen deficiency. Haemophilia. 2008 Nov;14(6):1261-8.
SAMPLE REPORT Upon request
NEW YORK STATE APPROVED No

Test Codes

ORDER CODE P1211
CPT CODE 81479
LOINC CODE 99969-8