Ketone Disorders Gene Panel
Use
This test is useful for follow-up of abnormal biochemical results suggestive of a ketone disorder, establishing a molecular diagnosis for patients with ketone disorders, and identifying variants within genes known to be associated with ketone disorders to allow predictive testing of at-risk family members. Identification of a disease‑causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for ketone disorders.
Special Instructions
Not provided.
Limitations
Certain regions of genes may not be effectively evaluated due to assay limitations (regions of homology, high GC content, repetitive sequences). The test uses GRCh37/hg19 alignment; sensitivity is estimated over 99% for SNVs, over 94% for indels <40 bp, and over 95% for deletions up to 75 bp and insertions up to 47 bp. NGS/PCR‑based methods are used to detect deletions/duplications. Results should be interpreted in clinical context, family history, and other laboratory data. Specimen quality issues (e.g., post–allogeneic hematopoietic stem cell transplant or transfusion) may interfere with accuracy.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD); acceptable: green top (sodium heparin)
Collection Instructions
Invert several times to mix blood; send whole blood in original tube; do not aliquot; postnatal umbilical cord whole blood acceptable but maternal cell contamination testing required.
Patient Preparation
Prior hematopoietic stem cell transplant may interfere; contact lab.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |