HLX Prothrombin CASE HLX Prothrombin CASE

Synonyms

Allscripts (AEHR) Order Name

Prothrombin Gene Mutation

Sunrise Clinical Manager (SCM) Order Name

Molecular Genetics - Prothrombin

EPIC Order Name

Prothrombin (PTR) Mutation Molecular Detection

Clinical Info

The prothrombin (Factor II) mutation refers to a base change from guanine (G) to adenine (A) at nucleotide position 20210 in the prothrombin gene. The G20210A mutation is associated with an elevation of prothrombin levels to about 30 percent above normal in heterozygotes and to 70 percent above normal in homozygotes. The mutation is the second most common inherited risk factor for thrombosis. In the United States, the prevalence of the mutant allele is 1.1 percent in Caucasians and Hispanics and 0.3 percent in African Americans. This mutation is present in about 2 percent of the population and in 6 percent or more of patients who present with a first venous thromboembolism (VTE). 

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender-top (EDTA) tube(s)
Specimen Volume: 1-3 mL of peripheral blood
Transport Temperature:  Room Temperature
 
Note: Pertinent medical information including patient’s age, suspected diagnosis and a signed
Patient Genetic Consent Form are required.

Transport Instructions

Room Temperature

Specimen Stability

Specimens are stable for a week refrigerated.

Methodology

Real-Time PCR

Days Performed

Monday through Friday
TAT: 8 Calendar days

Performing Laboratory

Northwell Health Laboratories

CPT

81240

PDM

5160177

Result Interpretation

An interpretative report will be provided.

Forms

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