Test Code: 3246

Formiminotransferase Deficiency/FIGLU-uria: FTCD Gene Deletion/Duplication
Test Code: 3246
Turnaround time: 5 weeks


Formiminotransferase deficiency is an autosomal recessive disorder that is the second most common inborn error of folate metabolism. There are two forms of the disorder: a severe phenotype and a mild phenotype. The severe phenotype is associated with elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of the mild phenotype include high urinary excretion of FIGLU in the absence of hisitidine administration, mild developmental delay, and no hematological abnormalities.

Formiminotransferase-cyclodeaminase (FTCD) is a bifunctional enzyme that catalyzes two consecutive reactions that couple histidine degredation to folate metabolism. The highest levels of FTCD are found in the liver. While high levels of FIGLU in the urine suggest FTCD deficiency, there are other causes of elevated FIGLU excretion. Confirmation of a diagnosis of FTCD deficiency requires an enzyme assay from a liver biopsy; enzymatic activity is not detectable in either fibroblasts or blood cells. Mutations in the FTCD gene (21q22.3) cause formiminotransferase deficiency.

(1) Hilton, JF et al. The molecular basis of glutamate formiminotransferase deficiency. 2003. Human Mutation 22:67-73.
(2) Mao,Y et al. Structure of the bifunctional and Golgi-associated formiminotransferase cyclodeaminase octamer. 2004. EMBO 23:2963-2971.

(3)OMIM entries 229100 and 606806


This test is indicated for:

  • Confirmation of a clinical diagnosis of FTCD deficiency in individuals who have tested negative for sequence analysis
  • Carrier testing in adults with a family history of FTCD deficiency who have tested negative for sequence analysis


DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.

Please note that a “backbone” of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off- target copy number variants causative of disease may be identified that may or may not be related to the patient’s phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.


Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient’s clinical and/or biochemical phenotype.


Submit only 1 of the following specimen types
* Preferred specimen type: Whole Blood

Type: Whole Blood
Specimen Requirements:
In EDTA (purple top) or ACD (yellow top) tube: Infants (2 years): 3-5 ml
Older Children & Adults: 5-10 ml

Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.

Type: Saliva
Specimen Requirements:
OrageneTM Saliva Collection kit (available through CEN4GEN) used according to manufacturer instructions.

Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.

Submit copies of diagnostic biochemical test results with the sample, if appropriate.
Sequence analysis is required before deletion/duplication analysis by targeted CGH array. If sequencing is performed by another third party provider, please submit a copy of the sequencing report with the test requisition.


  • Sequence analysis of the FTCD gene is available and is required before deletion/duplication analysis.