Cystic Fibrosis Rare Variant Analysis, Two Exons
Also known as: Cystic Fibrosis Analysis, CF, Two Exon
Use
This test is intended to identify two specific variants within the CFTR gene, useful for diagnosis, mutation confirmation, and screening in patients who have two known familial variants not included in standard CFTR mutation panels. It is particularly applied when rare familial variants are suspected that may not be covered by typical screening panels.
Special Instructions
Not provided.
Limitations
Not explicitly provided in detail, but this assay only targets two specific variants in the CFTR gene, and does not perform full gene sequencing or screen for other variants beyond those familial ones. Circumstances where variant interpretation may change require provider follow‑up; the laboratory may contact ordering providers if reclassification has clinical implications.
Methodology
NGS
Biomarkers
CFTR
Gene
LOINC Codes
- 21656-4 - CFTR Mut Tested Bld/T
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Tissue
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant