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
Not provided.
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
ACAT1, OXCT1, SLC16A1
Gene
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