Maple Syrup Urine Disease Gene Panel, Varies
Use
The Maple Syrup Urine Disease (MSUD) Gene Panel is useful for follow-up testing after abnormal biochemical results that suggest MSUD. It helps establish a molecular diagnosis for patients with MSUD by identifying genetic variants associated with the disease. This can facilitate predictive testing for at-risk family members. The test is capable of detecting single nucleotide and copy number variants in genes known to be related to MSUD, thus aiding in diagnosis, prognosis, clinical management, familial screening, and genetic counseling.
Special Instructions
This test employs next-generation sequencing for the analysis of genes associated with MSUD. Reflex tests, such as amniotic fluid culture or fibroblast culture, may be performed for prenatal specimens at an additional charge if specific sample types are received. Maternal cell contamination testing is done in the presence of prenatal specimens. For cord blood specimens accompanied by a maternal blood specimen, maternal cell contamination studies are conducted at an extra charge.
Limitations
While the test utilizes advanced sequencing technologies, limitations inherent to next-generation sequencing apply, such as potential difficulty in detecting certain types of genetic variants outside of targeted regions or the inability to determine the phase of genetic variants. This test does not eliminate the possibility of false negatives due to sample conditions or unrecognized genetic factors beyond the identified panel.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
For prenatal specimens, amniotic fluid or cultured amniocytes will require a culture performed at an additional charge. If a chorionic villi specimen or cultured chorionic villi are received, a fibroblast culture will be conducted at an additional charge. For skin biopsy or cultured fibroblast specimens, a fibroblast culture will be executed with an extra fee if viable cells are not obtained.