Glycogen Storage Disease Gene Panel, Varies
Use
This test is useful for following up abnormal biochemical results consistent with glycogen storage disease (GSD), establishing a molecular diagnosis for patients with GSD, and identifying variants within genes known to be associated with GSD for predictive testing of at-risk family members. It involves sequence capture and targeted next-generation sequencing to detect single nucleotide and copy number variants in 28 genes associated with GSD.
Special Instructions
For patients who had an allogenic hematopoietic stem cell transplant, previous transplants interfere with testing. Specimens should be received within 4 days of collection for optimal results. A separate culture charge will apply for certain specimen types like fibroblasts or amniotic fluid. Maternal cell contamination studies may be required for prenatal specimens.
Limitations
Technical limitations include potential failure to detect all genomic variants due to regions of homology, high guanine-cytosine content, and repetitive sequences. Certain genomic regions may not be evaluated effectively. Next-generation sequencing may result in false positives or negatives due to variable depth of coverage. Variants are confirmed by alternate methodologies as needed. This test does not detect all deletions or duplications, mosaicism, or somatic vs. germline variants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105261-2
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
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
Preferred: Lavender top (EDTA) or yellow top (ACD), Acceptable: Green top (sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |