Invitae Ketolysis Disorders Panel
Use
The Invitae Ketolysis Disorders Panel is designed to analyze genes associated with disorders related to impaired ketone body metabolism. This genetic testing may confirm diagnoses and aid in guiding treatment and management decisions. Identification of pathogenic variants provides crucial insight for genetic counseling, risks for family members, and carrier status assessment.
Special Instructions
The panel consists of a comprehensive analysis using NGS technology, providing full-gene sequencing alongside deletion and duplication analysis. It comes with high sensitivity and specificity for a wide range of variants but may have limitations detecting certain structural rearrangements.
Limitations
The assay may not detect certain types of variants such as structural rearrangements or those in complex sequences. Moreover, promoter changes, non-coding exons, or non-coding regions aren't typically covered unless specified. Single exon copy numbers might be missed under certain data quality conditions.
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)