Test ID: FMTT    
Familial Mutation, Targeted Testing, Varies

Diagnostic or predictive testing for specific conditions when a DNA variant of interest has been previously identified in a family member and follow-up testing for this specific variant in other family members is desired

Carrier screening for individuals at risk for having a variant that was previously identified in a family member

Segregation analysis for a familial DNA variant

Confirmation of germline status for variants detected via somatic testing

Familial variant targeted testing is available for most genes that are currently part of another genetic test offered by Mayo Clinic Laboratories. Additional genes may also be available and require consultation with the laboratory prior to ordering. Genes generally not offered under this test code at this time include, but are not limited to, the following:

-Genes with limitations related to patents

-Genes with limitations related to homology

-mtDNA genes for heteroplasmy

-Globin genes for prenatal testing

-CYP21A2

-PKLR

-UGT1A1

Additional genes/variants may be unavailable per laboratory discretion.

Targeted testing is available regardless as to whether the family/individual had previous testing through Mayo Clinic Laboratories or another laboratory. See Additional Testing Requirements if the familial variant was previously identified at an outside laboratory. Documentation of the specific familial variants is required and must be provided with the specimen in order to perform this test.

Consultation with the laboratory is required prior to ordering this test on prenatal specimens.

The preferred specimen for this test is whole blood. Other specimens may be acceptable depending on the gene and methodology required. Contact the laboratory if you have questions regarding a specific specimen type. In general, deletion/duplication analysis requires a higher volume and concentration of DNA, therefore, whole blood is the preferred specimen type.

In some cases, testing for a known variant may require submission of additional proband sample, or may not be available for technical or legal reasons.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added at an additional charge. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added at an additional charge.

For any prenatal specimen that is received, maternal cell contamination studies will be added.

If skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

See Full Gene Analysis/Multi-Gene Panels versus Familial Mutation Targeted Testing in Special Instructions.

• Informed Consent for Genetic Testing
• Familial Mutation Testing: Required Patient Information
• Full Gene Analysis/Multi-Gene Panels versus Familial Mutation Targeted Testing
• Blood Spot Collection Card-Spanish Instructions
• Blood Spot Collection Card-Chinese Instructions
• Informed Consent for Genetic Testing (Spanish)
• Blood Spot Collection Instructions

Polymerase Chain Reaction (PCR) followed by DNA Sequencing Analysis, Gene Dosage Analysis by Array Comparative Genomic Hybridization (aCGH), Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA), and/or Quantitative Polymerase Chain Reaction (qPCR)