Test ID: KVAR3    
Known Variant Analysis-3+ Variants

Diagnostic or predictive testing for specific conditions when 3 to 5 DNA sequence variants of interest have been previously identified in a family member, and follow-up testing for these specific variants in other family members is desired

Carrier screening for individuals at risk for having 3 to 5 DNA sequence variants that were previously identified in a family member

Segregation analysis for 3 to 5 familial DNA sequence variants

Documentation of the specific familial variant is required and must be provided with the specimen in order to perform this test.

This test should be used for targeted (site-specific) testing for 3 to 5 sequence variants identified in any of the genes listed in the Clinical Information section.

Note: If testing is needed for a gene not on this list, see 1 of the following:

-PKLRG / Pyruvate Kinase Liver and Red Blood Cell (PKLR) Full Gene Sequencing and Large Deletion Detection, testing for known familial large deletions in the PKLR gene. PKLR gene sequencing for 3 to 5 variants may be requested by ordering this test (KVAR3).

-FMTT / Familial Mutation, Targeted Testing, which includes targeted and site-specific and deletion or duplication testing for additional genes.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

If the familial variants were previously identified at an outside laboratory, sending DNA from a family member with a positive genetic test result to be used as a positive control is strongly recommended to ensure that the specific familial variant can be detected by our laboratory. Proband samples should be sent as a separate (KVAR3) order, under the proband's identifiers (ie, do not send the patient and proband samples under the same order). If a positive control is not provided, negative results will be reported with a stated limitation that the laboratory's ability to detect the familial variant has not been confirmed and a false-negative result cannot be ruled out.

• Informed Consent for Genetic Testing
• Known Variant Analysis Required Patient Information

Polymerase Chain Reaction (PCR) Followed by DNA Sequencing Analysis