Test Catalog

Test ID: FMTT    
Familial Mutation, Targeted Testing, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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




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.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
MATCCMaternal Cell Contamination, BYesNo
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
_G001Gene GRHPRNo, (Bill Only)No
_G002Gene PPOXNo, (Bill Only)No
_G003Gene CFTR_SEQNo, (Bill Only)No
_G004Gene CFTR_MLPANo, (Bill Only)No
_G005Gene MLH1No, (Bill Only)No
_G006Gene MSH2No, (Bill Only)No
_G007Gene MSH6No, (Bill Only)No
_G008Gene MECP2_SEQNo, (Bill Only)No
_G009Gene MLH3No, (Bill Only)No
_G010Gene CHEK2No, (Bill Only)No
_G011Gene IDUANo, (Bill Only)No
_G012Gene AXIN2No, (Bill Only)No
_G013Gene BMPR1ANo, (Bill Only)No
_G014Gene PTENNo, (Bill Only)No
_G015Gene SMAD4No, (Bill Only)No
_G016Gene STK11No, (Bill Only)No
_G017Gene TP53No, (Bill Only)No
_G018Gene IDSNo, (Bill Only)No
_G019Gene FLCNNo, (Bill Only)No
_G020Gene SPINK1No, (Bill Only)No
_G021Gene PRSS1No, (Bill Only)No
_G022Gene CTRCNo, (Bill Only)No
_G025Gene ABCD1No, (Bill Only)No
_G026Gene CDH1No, (Bill Only)No
_G027Gene NAGLUNo, (Bill Only)No
_G028Gene SGSHNo, (Bill Only)No
_G029Gene ARSBNo, (Bill Only)No
_G030Gene GNPTABNo, (Bill Only)No
_G031Gene SEPT9No, (Bill Only)No
_G032Gene ACADVLNo, (Bill Only)No
_G033Gene ACADMNo, (Bill Only)No
_G034Gene ACADSNo, (Bill Only)No
_G035Gene FECHNo, (Bill Only)No
_G036Gene MAPTNo, (Bill Only)No
_G037Gene PKHD1No, (Bill Only)No
_G038Gene GRNNo, (Bill Only)No
_G039Gene FTCDNo, (Bill Only)No
_G040Gene CDKN1CNo, (Bill Only)No
_G041Gene CPOXNo, (Bill Only)No
_G042Gene ATP7BNo, (Bill Only)No
_G043Gene GAANo, (Bill Only)No
_G044Gene HMBSNo, (Bill Only)No
_G045Gene GALTNo, (Bill Only)No
_G046Gene GLANo, (Bill Only)No
_G047Gene BTDNo, (Bill Only)No
_G048Gene HEXANo, (Bill Only)No
_G049Gene AGXTNo, (Bill Only)No
_G050Gene APCNo, (Bill Only)No
_G051Gene MLYCDNo, (Bill Only)No
_G052Gene MMACHCNo, (Bill Only)No
_G053Gene GBANo, (Bill Only)No
_G054Gene SMPD1No, (Bill Only)No
_G055Gene CPT2No, (Bill Only)No
_G056Gene TTRNo, (Bill Only)No
_G057Gene UBE3ANo, (Bill Only)No
_G058Gene GALCNo, (Bill Only)No
_G059Gene GSNNo, (Bill Only)No
_G060Gene LYZNo, (Bill Only)No
_G061Gene FGANo, (Bill Only)No
_G062Gene APOA1No, (Bill Only)No
_G063Gene APOA2No, (Bill Only)No
_G064Gene MMADHCNo, (Bill Only)No
_G065Gene SLC25A20No, (Bill Only)No
_G066Gene ARSANo, (Bill Only)No
_G067Gene NPC1/2_SEQ and NPC1/2_MLPANo, (Bill Only)No
_G068Gene PMS2_LR and PMS2_SEQNo, (Bill Only)No
_G069Gene PMS2_MLPANo, (Bill Only)No
_G070Gene RAI1No, (Bill Only)No
_G071Gene MUTYHNo, (Bill Only)No
_G072Gene HGSNATNo, (Bill Only)No
_G073Gene GNS and GRHPR_MLPANo, (Bill Only)No
_G074Gene PSAPNo, (Bill Only)No
_G075Single-gene Large Del/DupNo, (Bill Only)No
_G076Gene MECP2_MLPANo, (Bill Only)No
_G077Gene RETNo, (Bill Only)No
_G078Gene SUMF1No, (Bill Only)No
_G079Gene CASR_SeqNo, (Bill Only)No
_G080Gene VHL_SEQNo, (Bill Only)No
_G081VHL_MLPANo, (Bill Only)No
_G082Gene SHDP_MLPANo, (Bill Only)No
_G083Gene SDHB, SDHC, and SDHD_MLPANo, (Bill Only)No
_G084Gene SDHB, SDHC, SDHD_SeqNo, (Bill Only)No
_G085Gene BRCA1No, (Bill Only)No
_G086Gene BRCA2No, (Bill Only)No
_G087Gene DMD_MLPANo, (Bill Only)No
_G088Gene PMP22_MLPANo, (Bill Only)No
_G089Gene MPZ_MLPANo, (Bill Only)No
_G102Gene SERPINA1No, (Bill Only)No
_G112Gene SDHAF2No, (Bill Only)No
_G113Gene TMEM127No, (Bill Only)No
_G114Gene MAXNo, (Bill Only)No
_G115Gene SMN1No, (Bill Only)No
_G125Gene PMP22_SEQNo, (Bill Only)No
_G127Gene GJB2_SEQNo, (Bill Only)No
_G128Gene HBA1/HBA2_SEQNo, (Bill Only)No
_G129Gene HBB_SEQNo, (Bill Only)No
_G130Known Familial Variant,OtherNo, (Bill Only)No
G168Gene CSTBNo, (Bill Only)No
G169Gene CACNA1ANo, (Bill Only)No
CRYOBCryopreserve for Biochem StudiesNoNo
FIBRFibroblast CultureYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Familial Mutation, Targeted Testing

Aliases Lists additional common names for a test, as an aid in searching

Familial Mutation
Familial Variant
Family Mutation
Family Variant
Known Mutation
Known Variant
Mutation Specific
Site Specific
Targeted Mutation
Targeted Test
Targeted Variant
Variant Specific