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HelpTest ID GNF11 Hemophilia C (Factor XI Deficiency), F11 Gene, Next-Generation Sequencing, Varies
Ordering Guidance
Special coagulation testing for factor XI (FXI) activity should be performed prior to any genetic testing. For assessment of FXI activity, order F_11 / Coagulation Factor XI Activity Assay, Plasma.
This test should only be considered if clinical and family history, initial coagulation screens, or initial activity tests indicate a diagnosis of FXID (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 mutation testing) is available for the F11 gene. 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 providers 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 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 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 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 3 to 4 weeks are required to culture fibroblasts 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.
Acceptable:
Specimen Type: Confluent cultured cells
Container/Tube: T-25 flask
Specimen Volume: 2 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/or 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 XI deficiency (FXID) in patients with a personal or family history suggestive of FXID
Confirming an FXID diagnosis with the identification of known or suspected disease-causing alterations in the F11 gene
Determining the disease-causing alterations within the F11 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of FXID
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 FXID
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 XI deficiency (FXID) should begin with special coagulation testing for factor XI (FXI) activity.
Genetic testing for FXID is indicated if:
-Factor XI activity is less than 50% of normal (Note: reference ranges may vary depending on the locally established reference range).
-Acquired causes of factor XI have been excluded. Note: FXID appears to be a rare complication of liver transplantation.
Prenatal specimens:
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.
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
F11 Gene, Full Gene NGSSpecimen Type
VariesSpecimen Minimum Volume
Whole blood: 1 mL; Amniotic fluid: 10 mL; Other specimen types: See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | |
Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
28 to 42 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. 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)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| GNF11 | F11 Gene, Full Gene NGS | 94239-1 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 619132 | Test Description | 62364-5 |
| 619133 | Specimen | 31208-2 |
| 619134 | Source | 31208-2 |
| 619135 | Result Summary | 50397-9 |
| 619136 | Result | 82939-0 |
| 619137 | Interpretation | 69047-9 |
| 619138 | Additional Results | 82939-0 |
| 619139 | Resources | 99622-3 |
| 619140 | Additional Information | 48767-8 |
| 619141 | Method | 85069-3 |
| 619142 | Genes Analyzed | 82939-0 |
| 619143 | Disclaimer | 62364-5 |
| 619144 | Released By | 18771-6 |