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. |
|
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 Deletion/Duplication analysis 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 one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411. |
Form Needed
Download molecular-lab-request-form.pdf
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
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.