Sign in →

Test Code GNF13 Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies


Ordering Guidance


Special coagulation testing for factor XIII (FXIII) activity should be performed prior to any genetic testing. For assessment of FXIII activity, order ALBLD / Bleeding Diathesis Profile, Limited, Plasma, which includes the factor XIII screening assay.

 

Genetic testing should only be considered if clinical and family history, initial coagulation screens, or initial activity tests indicate a diagnosis of FXIII deficiency (see Testing Algorithm).

 

If genetic testing for hereditary bleeding disorders using a larger panel is desired, both a 6-gene focused bleeding panel and a 25-gene comprehensive bleeding panel are available. For more information see GNBLF / Bleeding Disorders, Focused Gene Panel, Next-Generation Sequencing, Varies or GNBLC / Bleeding Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies.

 

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the F13A1 and F13B genes. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.



Additional Testing Requirements


All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies  on both the prenatal specimen and the maternal specimen as separate order numbers..



Shipping Instructions


 



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 healthcare professionals are strongly encouraged to fill out the form and send with the specimen.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with whole blood testing. For information about testing patients who have received a bone marrow transplant, call 800-533-1710.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

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 Information: Ambient (preferred) 4 days/Refrigerated 4 days

Additional Information: To ensure minimum volume and concentration of DNA are met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.

 

Prenatal Specimens

Due to its complexity, consultation with the laboratory is required for all prenatal testing; call 800-533-1710 to speak to a genetic counselor. 

 

Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred) 24 hours/Ambient 4 hours

Additional information:

1. Specimens are preferred to be received within 24 hours of collection. Culture and extraction will be attempted for specimens received after 24 hours and will be evaluated to determine if testing may proceed.

2. A separate culture charge will be assessed under CULAF / Culture for Genetic Testing, Amniotic Fluid. An additional 2 to 3 weeks are required to culture amniotic fluid before genetic testing can occur.

3. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

 

Specimen Type: Chorionic villi

Container/Tube: 15-mL Tube containing 15 mL of transport media

Specimen Volume: 20 mg

Specimen Stability Information: Refrigerated 24 hours

Additional Information:

1. Specimens are preferred to be received within 24 hours of collection. Culture and extraction will be attempted for specimens received after 24 hours and will be evaluated to determine if testing may proceed.

2. A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 2 to 3 weeks are required to culture amniotic fluid before genetic testing can occur.

3. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

 

Specimen Type: Confluent cultured cells

Container/Tube: T-25 flask

Specimen Volume: 2 Full flasks

Collection Instructions: Submit confluent cultured cells from another laboratory.

Specimen Stability Information: Ambient (preferred) 24 hours/Refrigerated 24 hours

Additional Information:

1. Specimens are preferred to be received within 24 hours of collection. Culture and extraction will be attempted for specimens received after 24 hours and will be evaluated to determine if testing may proceed.

2. A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing.

3. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.


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 an Coagulation Test Request (T753) with the specimen.

Useful For

Evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID

 

Confirming an FXIIID diagnosis with the identification of known or suspected disease-causing alterations in the F13A1 or F13B genes

 

Determining the disease-causing alterations within the F13A1 or F13B genes to delineate the underlying molecular defect in a patient with a laboratory diagnosis of FXIIID

 

Identifying the causative alterations for genetic counseling purposes

 

Prognosis and risk assessment based on genotype-phenotype correlations

 

Carrier testing for close family members of an individual with a diagnosis of FXIIID

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No
CULAF Amniotic Fluid Culture/Genetic Test Yes No
MATCC Maternal Cell Contamination, B Yes No

Testing Algorithm

The clinical workup for factor FXIII deficiency (FXIIID) should begin with special coagulation testing for factor XIII activity.

 

A standard testing algorithm for FXIIID has been developed by the Scientific and Standardization Committee of the International Society for Thrombosis and Haemostasis.(1)

 

Genetic testing for FXIIID is indicated if:

-The clot solubility test, a screening test for possible factor XIII deficiency, is abnormal or FXIII antigen or activity is decreased

-Acquired causes of FXIIID have been excluded (eg, leukemia, liver disease, Henoch-Schonlein purpura, inflammatory bowel diseases, disseminated intravascular coagulation, pulmonary embolism, stroke, and sepsis, exposure to valproate)

Note: Factor XIII may occur spontaneously in older adults.

 

If an amniotic fluid specimen is received, an amniotic fluid culture will be performed at an additional charge.?

If a chorionic villi specimen or cultured chorionic villi are received, a fibroblast culture will be performed at an additional charge.?

For any prenatal specimen that is received, maternal cell contamination testing will be performed at an additional charge.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

F13A1 and B Genes, Full Gene NGS

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL; Amniotic fluid: 10 mL; Other specimen types: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

28 to 42 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. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81479

88233-Tissue culture, skin, solid tissue biopsy (if appropriate)

88240-Cryopreservation (if appropriate)

88235-Amniotic fluid culture (if appropriate)

81265-Maternal cell contamination (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GNF13 F13A1 and B Genes, Full Gene NGS 92991-9

 

Result ID Test Result Name Result LOINC Value
619146 Test Description 62364-5
619147 Specimen 31208-2
619148 Source 31208-2
619149 Result Summary 50397-9
619150 Result 82939-0
619151 Interpretation 69047-9
619152 Additional Results 82939-0
619153 Resources 99622-3
619154 Additional Information 48767-8
619155 Method 85069-3
619156 Genes Analyzed 82939-0
619157 Disclaimer 62364-5
619158 Released By 18771-6