TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: ATNGS    
Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

The clinical workup for antithrombin deficiency begins with an antithrombin (AT) activity assay (see ATTF / Antithrombin Activity, Plasma). An abnormal result is considered less than 80% of normal activity.

 

Genetic testing for AT deficiency is indicated if:

-AT activity assay is less than 80%

-There is a clinical suspicion for hereditary deficiency of antithrombin due to family history or atypical clinical presentation

 

If AT activity results are abnormal, an antithrombin antigen assay is usually performed to determine the quantity of antithrombin present (ATTI / Antithrombin Antigen, Plasma). This is done to distinguish between type I AT deficiency (characterized by reduced AT activity and antigen) and type II AT deficiency (low activity and normal antigen).

Specimen Type Describes the specimen type validated for testing

Varies

Advisory Information

Genetic testing should only be considered if clinical and family history, initial coagulation screens, initial antithrombin activity and antigen tests indicate a diagnosis of antithrombin deficiency.

Shipping Instructions

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

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

Necessary Information

Rare Coagulation Disorder Patient Information is required, see Special Instructions. 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 Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Submit only 1 of the following specimens:

 

Specimen Type: Peripheral blood

Container/Tube:

Preferred: EDTA (lavender top)

Acceptable: ACD (yellow top) or sodium citrate

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

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 volume and concentration of the DNA.

Specimen Stability: Frozen (preferred)/Refrigerated/Ambient

Special Instructions Library of PDFs including pertinent information and forms related to the test

Forms

1. Rare Coagulation Disorder Patient Information (T824) is required, see Special Instructions. Fax the completed form to 507-284-1759.

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 in Special Instructions:

-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.

Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

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

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis OK
Gross lipemia OK

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen TypeTemperatureTimeSpecial Container
VariesAmbient (preferred)7 days
 Frozen 14 days
 Refrigerated 7 days