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
Unambiguous mutation description must be provided (gene name, cDNA-level notation, and either protein‑level notation, gDNA-level notation referencing a public reference sequence, or a DNA sequence of at least 30 bases indicating the altered base). For family members, a positive control is required. Primers are custom-designed; PCR amplification and sequencing are used. Specimen types include genomic DNA from buccal swab or 1–5 mL EDTA whole blood.
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
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