Beta-mannosidosis (MANBA) Sequencing

Disorder Beta-mannosidosis
Gene Name MANBA
Clinical info Beta-mannosidosis is one of the glycoproteinosis disorders, a subcategory of very rare lysosomal storage diseases. Patients with beta-mannosidosis typically have some degree of developmental delay or intellectual disability. Most of these patients have mild or no dysmorphic features. Behavior abnormalities, angiokeratomas, seizures, demyelinating peripheral neuropathy, and deafness have all been reported in association with beta-mannosidosis.
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.
Associated Tests Urine oligosaccharides are available in the Biochemical Diagnostic Lab and may be useful in screening for this disorder. Enzyme testing for beta-mannosidase activity is also available and can be used to help establish the diagnosis.
Detection Unknown
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 21 days
Prenatal testing 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.
CPT Codes Unknown mutation:81479

Known mutation: 81403

Deletion/Duplication analysis: 81479
Cost

$1000 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for a 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.