Invitae Pompe Disease Test
Use
The Invitae Pompe Disease test analyzes the GAA gene, which is the only known gene to cause Pompe disease, a glycogen-storage disease that progresses through deterioration of skeletal, heart, and smooth muscle tissues. This test is particularly crucial for individuals with an abnormal newborn screen for Pompe disease, clinical signs such as significant hypotonia, cardiomegaly, and hepatomegaly in infancy, or progressive muscle weakness. It provides necessary molecular analysis in individuals with low GAA enzyme activity, particularly due to known pseudodeficiency alleles in certain populations that cause reduced enzyme activity without clinical disease.
Special Instructions
Pompe disease can manifest with significant clinical overlap with other conditions such as Danon disease and primary carnitine deficiency. Depending on clinical presentation, additional gene tests for these conditions can be ordered at no extra charge. The test sequence analysis covers crucial gene regions including coding exons and key intronic sequences.
Limitations
The test has limitations in analyzing certain types of genetic variants such as structural rearrangements, variants in complex genomic regions, and isolates involving low data quality or complex architectures. Variants outside of the specified coding and intronic regions, and certain promoter and non-coding regions, are not analyzed. Additionally, results can be affected by recent hematological treatments or conditions in the patient.
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)