Invitae Crigler Najjar and Gilbert Syndrome Test
Use
The Invitae Crigler Najjar and Gilbert Syndrome Test analyzes the UGT1A1 gene, associated with conditions like Gilbert syndrome, Crigler-Najjar syndromes (types I and II), and familial transient neonatal hyperbilirubinemia. These conditions result from varying dysfunctions of the UDP-glucuronosyltransferase enzyme, leading to bilirubin accumulation and associated symptoms like jaundice. Clinical correlation is necessary as disease severity varies with enzyme activity level.
Special Instructions
This test analyzes common Gilbert syndrome variants in the TATA box region, known as UGT1A1*28. It does not test for other 5′ or 3′ UTR variants or phenobarbital-responsive enhancer module. Exclusions apply to sequence changes in certain non-coding regions.
Limitations
This set may not detect structural rearrangements, sequence complexities, or provide details like mosaicism or phasing. Only coding exons and adjacent intronic sequences are fully analyzed. Variants outside these regions or in non-coding exons are not covered. Single-exon copy number events might not be detected due to sequencing properties or data quality.
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)