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Test ID: FGAZ Fibrinogen Alpha-Chain (FGA) Gene, Full Gene Analysis, Varies

Useful For

Confirming a diagnosis of fibrinogen alpha-chain (FGA) gene-related familial visceral amyloidosis

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

Reporting Name

FGA Gene, Full Gene Analysis

Specimen Type


Shipping Instructions

Specimen preferred to arrive within 96 hours of draw.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)

Clinical Information

The systemic amyloidoses are a number of disorders of varying etiology characterized by extracellular protein deposition. The most common form is an acquired amyloidosis secondary to multiple myeloma or monoclonal gammopathy of unknown significance (MGUS) in which the amyloid is composed of immunoglobulin light chains. In addition to light chain amyloidosis, there are a number of acquired amyloidoses caused by the misfolding and precipitation of a wide variety of proteins. There are also hereditary forms of amyloidosis.


The hereditary amyloidoses comprise a group of autosomal dominant, late-onset diseases that show variable penetrance. A number of genes have been associated with hereditary forms of amyloidosis including those that encode transthyretin, apolipoprotein AI, apolipoprotein AII, gelsolin, cystatin C, lysozyme, and fibrinogen alpha chain (FGA). Apolipoprotein AI, apolipoprotein AII, lysozyme, and fibrinogen amyloidosis present as nonneuropathic systemic amyloidosis, with renal dysfunction being the most prevalent manifestation.


FGA-related familial visceral amyloidosis commonly presents with renal failure, which can often be fulminant, and is characterized by hypertension, proteinuria, and azotemia. Liver and spleen involvement may be seen in advanced cases. Neuropathy is not a feature of FGA-related familial visceral amyloidosis.


Due to the clinical overlap between the acquired and hereditary forms, it is imperative to determine the specific type of amyloidosis in order to provide an accurate prognosis and consider appropriate therapeutic interventions. Tissue-based, laser-capture tandem mass spectrometry might serve as a useful test preceding gene sequencing to better characterize the etiology of the amyloidosis, particularly in cases that are not clinically clear.


It is important to note that there are rare disorders of hemostasis that are also associated with mutations in the FGA gene. Patients with afibrinogenemia, hypofibrinogenemia, and dysfibrinogenemia have all been reported to have mutations in FGA. Most dysfibrinogenemias are autosomal dominant disorders; afibrinogenemia and hypofibrinogenemia are more often autosomal recessive disorders. In general, truncating mutations in FGA result in afibrinogenemia and missense mutations are a common cause of dysfibrinogenemia.

Reference Values

An interpretive report will be provided.


All detected alterations are evaluated according to American College of Medical Genetics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424

2. Benson MD: The hereditary amyloidoses. Best Pract Res Clin Rhematol 2003;17:909-927

3. Benson MD: Ostertag revisited: The inherited systemic amyloidoses without neuropathy. Amyloid 2005;12(2):75-87

4. Asselta R, Duga S, Tenchini ML: The molecular basis of quantitative fibrinogen disorders. Thromb Haemost 2006 Oct;4(10):2115-2129

5. Shiller SM, Dogan A, Highsmith WE: Laboratory methods for the diagnosis of hereditary amyloidoses. In Amyloidosis-Mechanisms and Prospects for Therapy. Edited by S Sarantseva. InTech 2011, pp 101-120

Day(s) Performed


Report Available

14 to 20 days

CPT Code Information

81479-Unlisted molecular pathology procedure

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FGAZ FGA Gene, Full Gene Analysis 94199-7


Result ID Test Result Name Result LOINC Value
53033 Result Summary 50397-9
53034 Result 82939-0
53035 Interpretation 69047-9
53036 Additional Information 48767-8
53037 Specimen 31208-2
53038 Source 31208-2
53039 Released By 18771-6


1. 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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions.

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.