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Test ID: FLG FLG Gene, Mutation Analysis

Useful For

Genetic diagnosis of ichthyosis vulgaris for clinical management, risk assessment for atopic diseases and atopic disease-associated asthma, and genetic counseling for family members

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

Reporting Name

FLG Gene, Mutation Analysis

Specimen Type

Varies


Specimen Required


Specimen preferred to arrive within 96 hours of collection.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

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 Stability Information: Ambient (preferred)/Refrigerated/Frozen

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 Full T-75 or 2 full T-25 flasks

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

 

Specimen Type: Skin biopsy

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [T115]).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient


Specimen Minimum Volume

Blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Clinical Information

Ichthyosis vulgaris is a common disease with an incidence rate of approximately 1 in 250. It is characterized by palmar hyperlinearity, keratosis pilaris, xerosis, and prominent fine scaling of the extensor surfaces of the extremities, the scalp, central part of the face, and the trunk. The clinical onset typically occurs within the first few years of life. Approximately 37% to 50% of people with ichthyosis vulgaris have atopic diseases and about 8% of patients with atopic diseases have classic features of ichthyosis vulgaris. A large number of epidemiological studies support an increased risk and severity of asthma that occurs in association with atopic disease. Clinical presentation associated with ichthyosis vulgaris can be confirmed by genetic testing.

 

Ichthyosis vulgaris is caused by loss-of-function alterations in the filaggrin (FLG) gene on chromosome 1q21. Filaggrin is a filament aggregating protein that promotes terminal differentiation of the epidermis and skin barrier formation. This prevents epidermal water loss and inhibits entry of allergens, toxic chemicals, and infectious organisms. Loss of filaggrin expression causes cytoskeletal disorganization leading to clinical phenotype associated with ichthyosis vulgaris. FLG mutations are found in about 7.7% of Europeans and 3% of Asians. However, these mutations appear to be less common in dark-skinned ethnicities. The R501X and 2282del4 are complete loss-of-function mutations accounting for approximately 80% of mutations in the Northern European population. However, they are rarer in the Southern European population. These 2 alterations have been shown to be very strong predisposing factors for atopic diseases. FLG mutations in other ethnicities are different than those found in European-origin populations.

 

This disease is inherited in a semidominant manner (ie, heterozygotes have either no symptoms or milder ichthyosis vulgaris and homozygotes/compound heterozygotes show marked ichthyosis vulgaris).

Reference Values

Interpretive report will be provided.

Interpretation

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. Smith FJD, Irvine AD, Terron-Kwiatkowski A, et al: Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006;38:337-342

3. Thyssen JP, Godoy-Gijon E, Elias PM: Ichthyosis vulgaris-the filaggrin mutation disease. Br J Dermatol 2013 Jun;168(6):1155-1166

4. Palmer CN, Irvine AD, Terron-Kwiatkowski A, et al: Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006 Apr;38(4):441-446

Day(s) and Time(s) Performed

Performed weekly; Varies

Analytic Time

10 days

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 U.S. Food and Drug Administration.

CPT Code Information

81401-FLG (filaggrin) (eg, ichthyosis vulgaris), common variants (eg, R501X, 2282del4, R2447X, S3247X, 3702delG

 

Fibroblast Culture for Genetic Testing

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

88240-Cryopreservation (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FLG FLG Gene, Mutation Analysis In Process

 

Result ID Test Result Name Result LOINC Value
52552 Result Summary 50397-9
52553 Result In Process
52554 Interpretation In Process
52555 Additional Information 48767-8
52556 Specimen 31208-2
52557 Source 31208-2
52558 Released By No LOINC Needed

Forms

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

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

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular