Confirmation of Variant Identified in Research Outside Laboratory
Use
This service allows clinical laboratory confirmation of one or more mutations identified in a research laboratory, enabling inclusion of these confirmed variants in a patient’s medical record and supporting medical management, genetic counseling, prenatal, carrier, and presymptomatic testing of at-risk family members. Accurate mutation descriptions are required, and inheritance patterns following Mendelian genetics are supported. A positive control sample may be required when testing family members other than the proband.
Special Instructions
Not provided.
Limitations
Test accuracy depends on the clarity of mutation information provided. Custom primers are required; if mutation description is ambiguous or inadequate, testing may fail or be delayed. This is not a broad screening test but confirmation of a specific mutation. Limitations inherent in PCR and sequencing (e.g., allele dropout, sample quality issues) may apply.
Methodology
PCR-based (PCR)
Biomarkers
No genes
Gene
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Buccal Swab
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant