Sign in →

Test ID PCNGS Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies


Ordering Guidance


For assessment of protein C activity, order CFX / Protein C Activity, Plasma.

 

If protein C activity is low, consider protein C antigen testing to help distinguish between type I and type II deficiencies. Order PCAG / Protein C Antigen, Plasma.



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)/Refrigerate/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 volume and concentration of the DNA.

Specimen Stability: Frozen (preferred)/Refrigerate/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 PROC gene of patients with congenital protein C deficiency

 

This test is not intended for prenatal diagnosis

Genetics Test Information

This test detects pathogenic alterations in the PROC gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of protein C deficiency.

 

The gene target for this test is:

Gene name (transcript): PROC (GRCh37 [hg19] NM_000312)

Chromosomal location: 2q14.3

Testing Algorithm

The clinical workup for protein C deficiency includes special coagulation testing for protein C activity.

 

Genetic testing for protein C deficiency is indicated if:

-Protein C activity is reduced (<75% of normal)

-Acquired causes of protein C deficiency have been excluded (eg, vitamin K deficiency, oral anticoagulation with coumarin compounds, liver disease, intravascular coagulation and fibrinolysis/disseminated intravascular coagulation)

Method Name

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

Reporting Name

PROC Gene, Full Gene NGS

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL blood
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 interpretive report will be provided

Day(s) Performed

Weekly

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
PCNGS PROC Gene, Full Gene NGS 93815-9

 

Result ID Test Result Name Result LOINC Value
606407 PCNGS Result 50397-9
606408 Alterations Detected 82939-0
606409 Interpretation 69047-9
606410 Additional Information 48767-8
606411 Method 85069-3
606412 Disclaimer 62364-5
606413 Panel Gene List 48018-6
606414 Reviewed By 18771-6

NY State Approved

Yes