Ordering a targeted variant test
CTGT performs targeted variant analysis for any gene on our test menu. The targeted variant may have been originally identified by our laboratory or by an outside laboratory. Targeted variant analysis is available for all standard specimen types, including prenatal specimens.
Our standard specimen requirements (whole blood, isolated DNA, prenatal specimens, fibroblasts, saliva) also apply to targeted variant tests. Please clearly label the specimen container with at least two patient identifiers (for example, patient name and date of birth). CTGT cannot accept specimens that do not have two patient identifiers.
CTGT does not provide a separate requisition form for targeted variant tests. To order a target variant test, complete our standard requisition form, including payment information, and indicate in the “Other Information” section on the last page of the requisition form that the order is for a targeted variant test. Send the completed requisition form with the specimen to CTGT. If the variant was identified at CTGT, please include the CTGT identification number or the name and date of birth of the patient in whom the variant was previously identified. If the variant was identified by an outside laboratory, please submit the report issued by the laboratory that previously identified the variant. If the report is not available, please include the nucleotide change and amino acid change for the variant and, if possible, the cDNA reference sequence number used by the outside laboratory.
CTGT standard billing requirements apply to targeted variant tests.
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In some cases, CTGT offers discounted parental testing when a variant of unknown significance (VUS) is identified in a patient. Discounted testing will be explicitly stated on the patient report issued by CTGT. Discounted parental DNA analysis will be performed only if both parental samples are submitted and if clinical information for both parents is provided. If parental samples are not available, analysis of one affected and one unaffected family member from the same side of the family may be performed instead. Discounted testing is only available within six months of the date the VUS is reported.
Our standard turnaround time (approximately 1-2 weeks for Sanger sequencing) also applies to targeted variant analysis.
CTGT does not need a positive control to be provided for targeted variant analysis.