Fucosidosis : FUCA1 Sequencing

Test Information

FUCA1 sequencing is a molecular test used to identify variants in the gene associated with Fucosidosis.

Turnaround Time

3 weeks

CPT Code(s)

81479

Cost

$1,000.00

Genes

Clinical Information

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 mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

Sanger Sequencing

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. 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.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are 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.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Sanger Sequencing
Meet The Jones Family

Meet The Jones Family

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered. ...

In The News