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HelpTest Code GNBLF Bleeding Disorders, Focused Gene Panel, Next-Generation Sequencing, Varies
Ordering Guidance
Special coagulation testing for evaluating patients with bleeding or hypocoagulability states should be performed prior to genetic testing. For more information see ALBLD / Bleeding Diathesis Profile, Limited, Plasma.
This test is designed to evaluate factor (F) VII, FVIII, FIX, FXI, GP1BA, and von Willebrand disease bleeding disorders.
If testing for hereditary bleeding disorders using a larger panel is desired, a 25-gene bleeding panel is available; order GNBLC / Bleeding Disorders, Focused Gene Panel, Next-Generation Sequencing, Varies
This test is not designed to evaluate for a single common hereditary bleeding disorder, such as when an individual has a known family history of hemophilia A or B or von Willebrand disease, specifically. If testing for a particular common hereditary bleeding disorder is desired, single gene tests are available for the F8, F9, and VWF genes. See GNHMA / Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies; GNHMB / Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies; or GNVWD von Willebrand Disease, VWF and GP1BA Genes, Next-Generation Sequencing, Varies
This test does not evaluate for the presence of inversions in the F8 gene that can cause hemophilia A. If testing for possible inversions in the F8 gene is desired, order F8INV / Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood
This test is not designed to evaluate for hereditary thrombosis disorders. If thrombosis is the indication for testing and testing for hereditary thrombosis disorders is desired, order GNTHR / Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
This test is not designed to evaluate for inherited platelet disorders. If a platelet disorder is suspected and comprehensive testing for platelet disorders is desired, order GNPLT / Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information, see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. 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 the maternal specimen as this must be a different order number than the prenatal specimen.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
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 instructions for 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
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)/Ambient
Additional information:
1. A separate culture charge will be assessed under CULAF / Culture for Genetic Testing, Amniotic Fluid.
2. 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
Additional Information:
1. A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
2. 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)/Refrigerated
Additional Information:
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.
Secondary ID
619243Useful For
Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder and initial laboratory testing results are suggestive for factors VII, VIII, IX, or XI deficiency, or a von Willebrand disease
Confirming a hereditary bleeding disorder diagnosis with the identification of a known or suspected disease-causing alteration in one or more of 6 genes associated with a variety of hereditary bleeding disorders
Determining the disease-causing alterations within one or more of these 6 genes to delineate the underlying molecular defect in a patient with a laboratory diagnosis of a bleeding disorder
Identifying the causative alteration for genetic counseling purposes
Prognosis and risk assessment based on the genotype-phenotype correlations
Carrier testing for close family members of an individual with a hereditary bleeding disorder diagnosis
Disease States
- Hemophilia A
- Hemophilia B
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
A systematic diagnosis through conventional coagulation testing is recommended prior to considering genetic testing for any suspected bleeding disorder.
Genetic testing for a hereditary bleeding disorder is indicated if:
-Coagulation tests indicate a deficiency or functional abnormality (note these tests are best performed in medically stable patients who are not receiving particular anticoagulants)
-There is a clinical suspicion of a hereditary bleeding disorder due to family history or atypical clinical presentation
-Acquired causes of deficiencies associated with bleeding have been excluded (eg, multiple myeloma, liver disease, warfarin therapy, vitamin K deficiency, systemic amyloidosis, or inhibitors)
If the bleeding tendency is a concern, sets of clinical guidelines on testing for heritable bleeding disorders, both common and rare, are freely available.(1-5)
For prenatal specimens only:
Prenatal genetic testing is not routinely performed without the prior identification of familial alterations. Requests for this prenatal testing without a known familial alteration are performed at the discretion of the Molecular Hematopathology Laboratory Director.
-If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added at an additional charge.
-If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added 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
Bleeding Focused Gene Panel, NGSSpecimen Type
VariesSpecimen Minimum Volume
Blood: 1 mL; Amniotic fluid: 10 mL; Other specimen types: See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Congenital or acquired bleeding diatheses are caused by a wide variety of coagulation abnormalities. The clinical presentation of an underlying bleeding disorder may include epistaxis, easy bruising, ecchymoses, muscle hematomas, menorrhagia, post-operative bleeding, bleeding into joint spaces, mucosal tract bleeds, intracranial bleeding, or gastrointestinal bleeding.
Determination of a hereditary bleeding disorder contributing to bleeding events in an individual or family can be useful for prognosis and risk assessment. Identification of an alteration that is known or suspected to cause disease can also be useful for determining the risk of bleeding for family members.
This panel evaluates 6 genes associated with a variety of hereditary bleeding disorders, including factor VII deficiency, hemophilia A, hemophilia B, factor XI deficiency, platelet-type von Willebrand disease, and von Willebrand disease.
The risk for developing bleeding associated with these syndromes varies. For example, in symptomatic individuals with factor VII deficiency, the most common symptoms have been reported as mucocutaneous, soft tissue, and joint and gastrointestinal bleeding; while those in individuals with factor X deficiency were bleeding after surgery and trauma; additionally, heavy menstrual bleeding was reported as common in both disorders.(1) Several of the genes on this panel have established bleeding risk or expert group guidelines.(1-7)
Indications for testing include, but are not limited to:
-Individuals with a suspected bleeding disorder for which there is no specific coagulation assay readily available
-Individuals who are at risk for being a carrier of a bleeding disorder, especially those bleeding disorders where carrier status cannot be easily determined by available coagulation assays
-Individuals whose personal or family histories indicate coinheritance of multiple hereditary bleeding disorders
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(8) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Method Description
Next-generation sequencing (NGS) and/or Sanger sequencing are performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletion-insertions (delins) less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS and/or a polymerase chain reaction-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.
There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. See Targeted Genes and Methodology Details for Bleeding Disorders, Focused Gene Panel and Methodology Details for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered.(Unpublished Mayo method)
Always refer to the final patient report for gene transcript information referenced at the time of testing. Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.
Genes analyzed: F7, F8, F9, F11, GP1BA, and VWF
Day(s) Performed
Varies
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
81238
81407
81408
81479
81479 (if appropriate for government payers)
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 |
|---|---|---|
| GNBLF | Bleeding Focused Gene Panel, NGS | 105331-3 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 619244 | Test Description | 62364-5 |
| 619245 | Specimen | 31208-2 |
| 619246 | Source | 31208-2 |
| 619247 | Result Summary | 50397-9 |
| 619248 | Result | 82939-0 |
| 619249 | Interpretation | 59465-5 |
| 619250 | Additional Results | 82939-0 |
| 619251 | Resources | 99622-3 |
| 619252 | Additional Information | 48767-8 |
| 619253 | Method | 85069-3 |
| 619254 | Genes Analyzed | 82939-0 |
| 619255 | Disclaimer | 62364-5 |
| 619256 | Released By | 18771-6 |