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HelpTest Code F13NG F13A1 and F13B Genes, Next-Generation Sequencing, Varies
Ordering Guidance
Genetic testing should only be considered if reduced factor XIII activity is documented and acquired cases of low factor XIII are excluded.
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 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
Detecting the pathogenic alterations within the F13A1 and F13B genes to delineate the underlying molecular defect in a patient with a laboratory diagnosis of factor XIII deficiency
Genetic confirmation of hereditary factor XIII deficiency with the identification of an alteration in either the F13A1 or F13B gene known or suspected to cause the condition
Testing for close family members of an individual with a factor XIII deficiency diagnosis
This test is not intended for prenatal diagnosis
Testing Algorithm
A standard testing algorithm for factor XIII deficiency (FXIIID) has been developed by the Scientific and Standardization Committee of the International Society for Thrombosis and Haemostasis (ISTH).(1)
Genetic testing for FXIIID is indicated if:
-Factor XIII activity (FXIII) is reduced on a qualitative functional FXIII activity test
-Acquired causes of factor XIII deficiency have been excluded
Special Instructions
Method Name
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate
Reporting Name
F13A1 and B Genes, Full Gene NGSSpecimen Type
VariesSpecimen 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) Performed
Varies
Report Available
21 to 28 daysPerforming 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 |
|---|---|---|
| F13NG | F13A1 and B Genes, Full Gene NGS | 92991-9 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 113076 | F13NG Result | 50397-9 |
| 113070 | Alterations Detected | 82939-0 |
| 113069 | Interpretation | 69047-9 |
| 113071 | Additional Information | 48767-8 |
| 113072 | Method | 85069-3 |
| 113073 | Disclaimer | 62364-5 |
| 113074 | Panel Gene List | 48018-6 |
| 113075 | Reviewed By | 18771-6 |