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Test Code ATNGS Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, 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


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


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.

Useful For

Ascertaining a causative alteration in SERPINC1 and the affected region of antithrombin (AT) protein in an individual clinically diagnosed with antithrombin deficiency

 

Genetic confirmation of a clinical AT deficiency diagnosis, particularly in patients with borderline low AT activity levels

 

Prognosis and risk assessment based on the genotype-phenotype correlations

 

Ascertaining alteration status of family members related to an individual with a confirmed SERPINC1 alteration for the purposes of informing clinical management and genetic counseling

 

Evaluating individuals with apparent heparin resistance

 

This test is not intended for prenatal diagnosis

Testing Algorithm

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).

Method Name

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

Reporting Name

SERPINC1 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

Reject Due To

Gross hemolysis OK
Gross lipemia OK

Reference Values

An interpretive report will be provided

Day(s) and Time(s) Performed

Performed weekly, Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ATNGS SERPINC1 Gene, Full Gene NGS 93814-2

 

Result ID Test Result Name Result LOINC Value
606391 ATNGS Result 50397-9
606392 Alterations Detected 82939-0
606393 Interpretation 69047-9
606394 Additional Information 48767-8
606395 Method 49549-9
606396 Disclaimer 62364-5
606397 Panel Gene List 48018-6
606398 Reviewed By 18771-6

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 U.S. Food and Drug Administration.