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HelpTest Code GNBLC Bleeding Disorders, Comprehensive 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 a variety of clotting factor-related hereditary bleeding disorders.
If testing for hereditary bleeding disorders using a smaller panel is desired, a six-gene bleeding panel is available; order GNBLF / 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.
Useful For
Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder
Confirming a hereditary bleeding disorder diagnosis with the identification of a known or suspected disease-causing alteration in one or more of 25 genes associated with a variety of hereditary bleeding disorders
Determining the disease-causing alterations within one or more of these 25 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
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 25 genes associated with a variety of hereditary bleeding disorders: F2, F5, F7, F8, F9, F10, F11, F13A1, F13B, FGA, FGB, FGG, GGCX, GP1BA, KLKB1, KNG1, LMAN1, MCFD2, PLAT, SERPINA1 c.1145T>G only, SERPINE1, SERPINF2, THBD, VKORC1, and VWF. See Targeted Genes and Methodology Details for Bleeding Disorders, Comprehensive Gene Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for a variety of hereditary bleeding disorders.
Disease States
- 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 for 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)
However, no screening test exists for detecting defects in a subset of genes on this panel, such as THBD. 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 Comprehensive 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, umbilical stump bleeding, subcutaneous and muscle hematomas, prolonged post-injury or post-operative bleeding, bleeding into joint spaces, mucosal tract bleeds, intracranial bleeding, or gastrointestinal bleeding. Affected women may have an increased risk for bleeding during menstrual periods, pregnancy, and after childbirth, as well as recurrent pregnancy loss.
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 for bleeding for family members.
This panel evaluates 25 genes associated with a variety of hereditary bleeding disorders or abnormal coagulation laboratory results such as prolonged clotting times, including prothrombin deficiency; factor V deficiency; factor VII deficiency; hemophilia A; hemophilia B; factor X deficiency; factor XI deficiency; factor XIII deficiency; fibrinogen deficiencies (afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia); vitamin K-dependent clotting factors deficiencies 1 and 2; platelet-type von Willebrand disease; fletcher factor (prekallikrein) deficiency; kininogen deficiency; combined factor V and VIII deficiency; familial hyperfibrinolysis; hemorrhagic diathesis due to antithrombin Pittsburgh; plasminogen activator inhibitor 1 deficiency; alpha 2 antiplasmin deficiency; bleeding due to high soluble thrombomodulin; and von Willebrand disease.
The risk for developing bleeding associated with these syndromes varies. For example, intracranial bleeding was reported in 5% of cases with afibrinogenemia and hypofibrinogenemia, 7% of cases with prothrombin deficiency, 8% of cases with factor V deficiency, 21% of symptomatic cases with factor X deficiency, and is considered very uncommon in cases with factor XI deficiency or combined factor V and factor VIII deficiency.(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 history 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.
Day(s) Performed
Varies
Report Available
28 to 42 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Extracted DNA: 3 months; Amniotic fluid, cultured amniocytes, chorionic villi, cultured chorionic villi: 1 monthPerforming 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
81443
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 |
|---|---|---|
| GNBLC | Bleeding Comprehensive Panel, NGS | 105330-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 619258 | Test Description | 62364-5 |
| 619259 | Specimen | 31208-2 |
| 619260 | Source | 31208-2 |
| 619261 | Result Summary | 50397-9 |
| 619262 | Result | 82939-0 |
| 619263 | Interpretation | 59465-5 |
| 619264 | Additional Results | 82939-0 |
| 619265 | Resources | 99622-3 |
| 619266 | Additional Information | 48767-8 |
| 619267 | Method | 85069-3 |
| 619268 | Genes Analyzed | 82939-0 |
| 619269 | Disclaimer | 62364-5 |
| 619270 | Released By | 18771-6 |