Invitae Mucopolysaccharidoses Plus (MPS+) Panel
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
Not provided.
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant