Invitae Purine Metabolism Disorders Panel
Use
The Invitae Purine Metabolism Disorders Panel analyzes genes associated with abnormalities in the synthesis, interconversion, and degradation of purines, adenine, and guanine. This test helps confirm a diagnosis and guides treatment and management decisions for disorders involving gout, anemia, epilepsy, developmental delays, intellectual disabilities, kidney problems, and immune deficiencies. Identification of disease-causing variants provides accurate risk assessment and determines carrier status in at-risk relatives.
Special Instructions
The panel covers full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology. It covers clinically important regions of each gene, including coding exons and certain intronic regions. Variants falling outside these regions are not analyzed. For specific coverage details, consult our test definition on the website. The report reflects analysis of an extracted genomic DNA sample, and rare cases may present where the analyzed DNA may not represent the patient's constitutional genome.
Limitations
>99% analytical sensitivity and specificity for SNVs, indels <15bp, and exon-level deletions/duplications. Larger indels (<15bp) marginally less sensitive. Single-exon copy number events may not always be analyzed. Structural rearrangements (e.g., inversions, translocations) and certain variants in complex sequences might not be detected. Sequence changes in promoters and non-coding regions are usually not covered.
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