Congenital Disorder of Glycosylation 1b : MPI Sequencing

Test Information

MPI sequencing is a molecular test used to identify variants in the gene associated with Congenital Disorder of Glycosylation 1b.

Turnaround Time

3 weeks

CPT Code(s)

81405

Cost

$1,000

Genes

Clinical Information

Congenital disorder of glycosylation (CDG) Ib is an autosomal recessive disorder caused by a deficiency of mannosephosphate isomerase. This enzyme normally catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate. This step is required for the addition of N-linked sugars to proteins. CDG Ib is unique among the known congenital disorders aof glycosylation by lacking significant CNS involvement. Patients may present with chronic diarrhea, failure to thrive and protein-losing enteropathy. Hepatic fibrosis may also develop. CDG Ib can be effectively treated with oral mannose supplementation.

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

Detection

Sequencing of the gene will detect over 99% of the causative mutations in patients with CDG Ib.

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 Shenal Family

Meet the Shenal Family

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can't imagine walking this journey without their...

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