PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies
Use
Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance. Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for CNC.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants. Rare cases of false-negative or false-positive results may occur. The depth of coverage may be variable for some target regions, and assay performance below the minimum criteria or for failed regions will be noted. Negative results do not rule out the diagnosis of a genetic disorder. There may be regions of genes that cannot be effectively evaluated due to technical limitations such as homology, high GC content, and repetitive sequences.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
PRKAR1A
Gene
LOINC Codes
- 94214-4 - PRKAR1A Del+Dup + Full Mut 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
14-21 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)
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 bone marrow transplant from an allogenic donor will interfere with testing.
Storage Instructions
Ambient 4 days/Refrigerated 4 days/Frozen 4 days
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |