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Test ID PRCNG PROCR Gene, Next-Generation Sequencing, Varies


Ordering Guidance


Indiscriminate testing for alterations in PROCR or other genes related to coagulation in unselected patients presenting with a first episode of venous thrombosis is not indicated.(1)

 

Routine testing of PROCR for genetic risk factors for thromboembolism is not recommended and may be of limited use in most cases.



Shipping Instructions


Ambient and refrigerated specimens must arrive within 7 days of collection, and frozen specimens must arrive within 14 days.

 

Collect and package specimen as close to shipping time as possible.



Necessary Information


Rare Coagulation Disorder Patient Information is required. Testing may proceed without the patient information, however, the information aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to fill out the form and send with the specimen.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD) or light-blue top (3.2% sodium citrate)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability: Ambient (preferred)/Refrigerated/Frozen

 

Specimen Type: Extracted DNA

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions:

1. Label specimen as extracted DNA and source of specimen.

2. Provide indication of volume and concentration of the DNA.

Specimen Stability: Frozen (preferred)/Refrigerated/Ambient


Forms

1. Rare Coagulation Disorder Patient Information (T824) is required.

2. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

3. If not ordering electronically, complete, print, and send a Coagulation Test Request (T753) with the specimen.

Useful For

Ascertaining a pathogenic alteration in the PROCR gene in patients with recurrent unprovoked venous thromboembolism (VTE)before the age of 40, a strong family history of unexplained and unprovoked VTE, and prior genetic testing for more common genetic variants associated with thrombophilia that does not correlate with the severity of the patient’s thrombophilia or clinical presentation

 

This test is not intended for prenatal diagnosis

Genetics Test Information

This test detects alterations in the PROCR gene associated with increased risk for venous thromboembolism.

 

The gene target for this test is:

Gene name (transcript): PROCR (GRCh37 [hg19] NM_006404)

Chromosomal location: 20q11.22

Testing Algorithm

No screening tests exist for defects in PROCR. A set of clinical guidelines from the British Society for Haematology on testing for heritable thrombophilia is freely available.(1) A genetic consultation is strongly recommended prior to ordering PROCR sequencing.

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing When Appropriate

Reporting Name

PROCR Gene, Full Gene NGS

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL
Extracted DNA: 100 mcL at 50 ng/mcl concentration

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred) 7 days
  Frozen  14 days
  Refrigerated  7 days

Reference Values

An interpretative report will be provided

Day(s) Performed

Varies

Report Available

21 to 28 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PRCNG PROCR Gene, Full Gene NGS 92993-5

 

Result ID Test Result Name Result LOINC Value
113092 PRCNG Result 50397-9
113086 Alterations Detected 82939-0
113085 Interpretation 69047-9
113087 Additional Information 48767-8
113088 Method 85069-3
113089 Disclaimer 62364-5
113090 Panel Gene List 48018-6
113091 Reviewed By 18771-6

NY State Approved

Yes