Congenital Disorders of Glycosylation Gene Panel, Varies
Use
This test is useful for establishing a molecular diagnosis for patients with congenital disorders of glycosylation. It is also helpful for identifying variants within genes associated with congenital disorders of glycosylation, which allows for predictive testing of at-risk family members.
Special Instructions
Not provided.
Limitations
Technical limitations include regions of genes that cannot be evaluated effectively due to homology, high GC content, and repetitive sequences. Next-generation sequencing may not detect all genomic variants, and false-negative or false-positive results may occur. Deletions-insertions of 40 or more bp may be less reliably detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105346-1 - Glycosylation congen multi anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 14 days |