Beta-mannosidosis : MANBA Sequencing

Test Information

MANBA sequencing is a molecular test used to identify variants in the gene associated with Beta-mannosidosis.

Turnaround Time

3 weeks

CPT Code(s)

81479

Cost

$1,000

Genes

  • MANBA

Clinical Information

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

This test can be used to confirm a suspected Beta-mannosidosis syndrome diagnosis Molecular analysis of the gene for Beta-mannosidosis (MANBA) is also available for identification of the causative mutation within a family, carrier status and prenatal diagnosis.

Methodology

Sanger Sequencing

Specimen Requirements

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube – at least 2-3ml for pediatric patients and 5-6ml for adult patients. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

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

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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