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Test ID: GFDZ FTCD Gene, Full Gene Analysis, Varies

Useful For

Second-tier test for confirming glutamate formiminotransferase deficiency (indicated by biochemical testing or newborn screening)


Ruling out other diseases associated with high levels of urine formiminoglutamate


Carrier screening in cases where there is a family history of glutamate formiminotransferase deficiency but disease-causing mutations have not been identified in an affected individual

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

FTCD 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.


Submit only 1 of the following specimens:



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 Stability Information: Ambient (preferred)/Refrigerated


Specimen Type: Cultured fibroblasts

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

Specimen Volume: 1 Full T-75 flask 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 Type: Blood spot

Supplies: Card - Blood Spot Collection (Filter Paper) (T493)


Preferred: Collection card (Whatman Protein Saver 903 Paper)

Acceptable: Ahlstrom 226 filter paper, or Blood Spot Collection Card (T493)

Specimen Volume: 2 to 5 Blood Spots on collection card (Whatman Protein Saver 903 Paper; Ahlstrom 226 filter paper; or Blood Spot Collection Card, T493)

Collection Instructions:

1. An alternative blood collection option for a patient >1 year of age is finger stick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry

Specimen Stability Information: Ambient (preferred)/Refrigerated

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions in Special Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.

Specimen Minimum Volume

Blood: 1 mL
Blood Spots: 5 punches-3 mm diameter

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Glutamate formiminotransferase deficiency is an autosomal recessive inborn error of folate and histidine metabolism caused by a deficiency of the enzyme, glutamate formiminotransferase-cyclodeaminase, which is encoded at the FTCD loci on chromosome 21q22.3. Glutamate formiminotransferase deficiency presents as a clinical spectrum that ranges from asymptomatic to severe. Individuals with the severe form of disease are reported to have mental and physical retardation and anemia, whereas the mild form is associated with a lesser degree of developmental delay. Of note, the association of the enzyme deficiency with mental retardation has been disputed in the literature.


An elevated amount of urine formiminoglutamate (FIGLU) is a cardinal sign of glutamate formiminotransferase deficiency for both the severe and mild clinical phenotypes. However, higher levels of urine FIGLU are observed in patients with milder forms of the disease and these levels occur in the absence of histidine loading; whereas the presence of FIGLU in the urine is typically only observed in severe cases after L-histidine administration. In addition, the severe form of disease is associated with elevated serum folate levels, whereas the milder form of disease is not.


As there are discrepancies in FIGLU and serum folate levels among affected individuals, confirmation of suspected cases of glutamate formiminotransferase deficiency may require a liver biopsy for enzymology or the identification of 2 disease-causing mutations in the FTCD gene. Identification of 2 FTCD mutations establishes a molecular diagnosis of glutamate formiminotransferase deficiency, and rules out other diseases associated with high levels of urine FIGLU, such as folate or methylcobalamin deficiencies. Evaluation of the FTCD gene by molecular genetic testing is recommended as a second-tier test subsequent to a positive newborn screen or biochemical test.

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. Hilton JF, Christensen KE, Watkins D, et al: The molecular basis of glutamate formiminotransferase deficiency. Hum Mutat 2003;22:67-73

3. Solans A, Estivill X, de la Luna S: Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency. Cytogenet Cell Genet 2000;88:43-49

Day(s) Performed


Report Available

14 to 20 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 US Food and Drug Administration.

CPT Code Information

81479-Unlisted molecular pathology procedure


Fibroblast Culture for Genetic Test

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
GFDZ FTCD Gene, Full Gene Analysis 94200-3


Result ID Test Result Name Result LOINC Value
53929 Result Summary 50397-9
53930 Result 82939-0
53931 Interpretation 69047-9
53932 Additional Information 48767-8
53933 Specimen 31208-2
53934 Source 31208-2
53935 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

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: