Invitae Mucopolysaccharidoses Plus (MPS+) Panel

Casandra

Casandra Test Code IN06185Version 1 (DRAFT)

Performing Lab

Lab Invitae CorporationLab Test ID 06185

Invitae Mucopolysaccharidoses Plus (MPS+) Panel

Clinical Use

Use

The Invitae Mucopolysaccharidoses Plus (MPS+) Panel analyzes genes associated with mucopolysaccharidoses, mucolipidoses, and oligosaccharidoses. This panel may be appropriate for individuals with signs and symptoms of mucopolysaccharidosis, such as coarse facial features, progressive cognitive disability, inguinal and/or umbilical hernias, hepatosplenomegaly, cardiac valve dysfunction, recurrent ear and respiratory infections, corneal clouding, and skeletal deformities. Phenotypic features of the mucopolysaccharidoses can overlap with certain mucolipidoses and oligosaccharidoses. Additionally, this panel may be appropriate for those in whom an MPS, mucolipidosis, or oligosaccharidosis is suspected due to biochemical findings or abnormal newborn screening results. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions.

Special Instructions

In addition to insurance and patient-pay billing options, this test is also available through a sponsored, no-charge testing program. Contact client services for more information regarding test details and customized gene removal options.

Limitations

Sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence. Variants outside these regions are not analyzed. Sensitivity and specificity are >99% for single nucleotide variants, insertions, and deletions <15bp. Sensitivity may be reduced for larger insertions and structural rearrangements. Certain variants, such as mosaicism or complex architecture, may not be detected. Promoter and non-coding regions are typically not covered. For details on regions or types of variants covered or excluded, consult the test definition.

Test Details

New York Approved