Fucosidosis (FUCA1) Sequencing

Disorder Fucosidosis
Gene Name FUCA1
Clinical info

Fucosidosis is a lysosomal storage disease that is primarily characterized by coarse facial features, dysostosis multiplex, angiokeratomas, neurological symptoms and progressive psychomotor deterioration. Patients may also have hepatosplenomegaly and hazy corneas.

There are two major sub types with type 1 having a more severe phenotype beginning around 6 months of age and death in the first decade. The milder type 2 is associated with longer survival and a slower progression of neurological symptoms and psychomotor delays.

Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.
Associated Tests

Urine oligosaccharides is available in the Biochemical Diagnostic Lab and may be useful for screening for this disorder.  Alpha-fucosidase enzyme testing is also available and can be used to help establish the diagnosis.

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 3 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation: 81479

Known mutation: 81479
Cost $1000 for full sequencing (unknown mutation)

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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