Urea Cycle Disorders Gene Panel, Varies
Use
This test is useful for following up on abnormal biochemical results suggestive of a urea cycle disorder (UCD). It is intended for establishing a molecular diagnosis for patients with a UCD and identifying variants within genes known to be associated with UCD, which allows for predictive testing of at-risk family members. The identification of a disease-causing variant can assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for UCD.
Special Instructions
Reflex tests may be performed for certain specimen types. For prenatal specimens such as amniotic fluid or chorionic villi, additional cultures and contamination tests may be performed with extra charges. Maternal cell contamination testing will be performed for prenatal and cord blood specimens with maternal blood.
Limitations
While this test detects single nucleotide and copy number variants in 16 genes associated with urea cycle disorders, it may not detect large genomic rearrangements or deep intronic variants that could impact gene function. Viable cell cultures are required for certain specimen types; if they are not obtained, clients will be notified.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Cord blood specimens should be accompanied by a maternal blood specimen for maternal cell contamination studies.