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Test ID: FMTT Familial Mutation, Targeted Testing

Useful For

Diagnostic or predictive testing for specific conditions when 1 or more mutations have been identified in a family member

                   

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

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
MATCC Maternal Cell Contamination, B Yes No
CULFB Fibroblast Culture for Genetic Test Yes No
CULAF Amniotic Fluid Culture/Genetic Test Yes No
_G001 Gene GRHPR No, (Bill Only) No
_G002 Gene PPOX No, (Bill Only) No
_G003 Gene CFTR_SEQ No, (Bill Only) No
_G004 Gene CFTR_MLPA No, (Bill Only) No
_G005 Gene MLH1 No, (Bill Only) No
_G006 Gene MSH2 No, (Bill Only) No
_G007 Gene MSH6 No, (Bill Only) No
_G008 Gene MECP2_SEQ No, (Bill Only) No
_G009 Gene MLH3 No, (Bill Only) No
_G010 Gene CHEK2 No, (Bill Only) No
_G011 Gene IDUA No, (Bill Only) No
_G012 Gene AXIN2 No, (Bill Only) No
_G013 Gene BMPR1A No, (Bill Only) No
_G014 Gene PTEN No, (Bill Only) No
_G015 Gene SMAD4 No, (Bill Only) No
_G016 Gene STK11 No, (Bill Only) No
_G017 Gene TP53 No, (Bill Only) No
_G018 Gene IDS No, (Bill Only) No
_G019 Gene FLCN No, (Bill Only) No
_G020 Gene SPINK1 No, (Bill Only) No
_G021 Gene PRSS1 No, (Bill Only) No
_G022 Gene CTRC No, (Bill Only) No
_G023 Gene MEFV No, (Bill Only) No
_G024 Gene TNFRSF1A No, (Bill Only) No
_G025 Gene ABCD1 No, (Bill Only) No
_G026 Gene CDH1 No, (Bill Only) No
_G027 Gene NAGLU No, (Bill Only) No
_G028 Gene SGSH No, (Bill Only) No
_G029 Gene ARSB No, (Bill Only) No
_G030 Gene GNPTAB No, (Bill Only) No
_G031 Gene SEPT9 No, (Bill Only) No
_G032 Gene ACADVL No, (Bill Only) No
_G033 Gene ACADM No, (Bill Only) No
_G034 Gene ACADS No, (Bill Only) No
_G035 Gene FECH No, (Bill Only) No
_G036 Gene MAPT No, (Bill Only) No
_G037 Gene PKHD1 No, (Bill Only) No
_G038 Gene GRN No, (Bill Only) No
_G039 Gene FTCD No, (Bill Only) No
_G040 Gene CDKN1C No, (Bill Only) No
_G041 Gene CPOX No, (Bill Only) No
_G042 Gene ATP7B No, (Bill Only) No
_G043 Gene GAA No, (Bill Only) No
_G044 Gene HMBS No, (Bill Only) No
_G045 Gene GALT No, (Bill Only) No
_G046 Gene GLA No, (Bill Only) No
_G047 Gene BTD No, (Bill Only) No
_G048 Gene HEXA No, (Bill Only) No
_G049 Gene AGXT No, (Bill Only) No
_G050 Gene APC No, (Bill Only) No
_G051 Gene MLYCD No, (Bill Only) No
_G052 Gene MMACHC No, (Bill Only) No
_G053 Gene GBA No, (Bill Only) No
_G054 Gene SMPD1 No, (Bill Only) No
_G055 Gene CPT2 No, (Bill Only) No
_G056 Gene TTR No, (Bill Only) No
_G057 Gene UBE3A No, (Bill Only) No
_G058 Gene GALC No, (Bill Only) No
_G059 Gene GSN No, (Bill Only) No
_G060 Gene LYZ No, (Bill Only) No
_G061 Gene FGA No, (Bill Only) No
_G062 Gene APOA1 No, (Bill Only) No
_G063 Gene APOA2 No, (Bill Only) No
_G064 Gene MMADHC No, (Bill Only) No
_G065 Gene SLC25A20 No, (Bill Only) No
_G066 Gene ARSA No, (Bill Only) No
_G067 Gene NPC1/2_SEQ and NPC1/2_MLPA No, (Bill Only) No
_G068 Gene PMS2_LR and PMS2_SEQ No, (Bill Only) No
_G069 Gene PMS2_MLPA No, (Bill Only) No
_G070 Gene RAI1 No, (Bill Only) No
_G071 Gene MUTYH No, (Bill Only) No
_G072 Gene HGSNAT No, (Bill Only) No
_G073 Gene GNS and GRHPR_MLPA No, (Bill Only) No
_G074 Gene PSAP No, (Bill Only) No
_G075 Single-gene Large Del/Dup No, (Bill Only) No
_G076 Gene MECP2_MLPA No, (Bill Only) No
_G077 Gene RET No, (Bill Only) No
_G078 Gene SUMF1 No, (Bill Only) No
_G079 Gene CASR_Seq No, (Bill Only) No
_G080 Gene VHL_SEQ No, (Bill Only) No
_G081 VHL_MLPA No, (Bill Only) No
_G082 Gene SHDP_MLPA No, (Bill Only) No
_G083 Gene SDHB, SDHC, and SDHD_MLPA No, (Bill Only) No
_G084 Gene SDHB, SDHC, SDHD_Seq No, (Bill Only) No
_G085 Gene BRCA1 No, (Bill Only) No
_G086 Gene BRCA2 No, (Bill Only) No

Testing Algorithm

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.

 

Any FMTT orders for a variant that was detected by whole exome sequencing (WES) or next-generation sequencing (NGS) large panel assays require a proband sample that has been previously run on these assays at Mayo Medical Laboratories. Contact the laboratory to determine whether adequate DNA is available in the laboratory or if a new proband sample is required.

 

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

Method Name

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

Reporting Name

Familial Mutation, Targeted Testing

Specimen Type

Varies


Advisory Information


This test can only be performed if a mutation has previously been identified in a family member of this individual.

 

The following genes are available for testing on the blood spot specimen type:

ABCD1, ACADM, ACADS, ACADVL, ARSA, ARSB, CFTR*, CPT2, CPOX, FECH, FTCD, GAA, GALT, GALC, GBA, GLA, GNS, HMBS, IDS, IDUA, MMACHC, MMADHC, NAGLU, PPOX, SGSH, SLC25A20, SMPD1, and SUMF1

*Note: CFTR deletion/duplication analysis is not offered on dried blood spot specimens.  

 

The following genes are available for testing on fibroblasts and skin biopsy specimen types:

ABCD1, ACADM, ACADS, ACADVL, APOA1, APOA2, ARSA, ARSB, ATP7B, BTD, CDKN1C, CPOX, CPT2, CTRC, FECH, FGA, FTCD, GAA, GALC, GALT, GBA, GLA, GNPTAB, GNS, GRN, GSN, HEXA, HMBS, IDS, IDUA, LYZ, MAPT, MEFV, MMACHC, MMADHC, NAGLU, PKHD1, PPOX, PRSS1, RET, SCG5, SGSH, SLC25A20, SMPD1, SPINK1, SUMF1, TNFRSF1A, TTR, and UBE3A

 

Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.

 

The following genes are available for testing on prenatal specimen types:

ABCD1, AGXT, ARSA, ARSB, BTD, CDKN1C, CFTR, CPT2, GLA, GALC, GALT, GBA, GNPTAB, GNS, GRHPR, HEXA, IDS, IDUA, MLYCD, MMACHC, MMADHC, NAGLU, NPC1, NPC2, PKHD1, SGSH, SLC25A20, SMPD1, SUMF1, and UBE3A. Contact the laboratory to inquire about genes not included on this list.



Additional Testing Requirements


All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.

 

Prenatal specimens can be sent Monday through Thursday and must be received by 5 p.m. CST on Friday in order to be processed appropriately.



Specimen Required


Refer to Advisory Information for a complete list of genes tested by specimen type.

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 full T-75 or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours

 

Specimen Type: Blood spot

Supplies: Card-Blood Spot (Filter Paper) (T493)

Preferred: Collection card (Whatman Protein Saver 903 Paper)

Acceptable: Ahlstrom 226 filter paper, or Card-Blood Spot Collection Card (T493)

Specimen Volume: 2 to 5 Blood Spots on collection card

Collection Instructions:

1. An alternative blood collection option for a patient >1 year of age is finger stick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Skin biopsy

Supplies: Fibroblast Biopsy Transport Media (T115)

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [T115]).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient

 

Prenatal Specimens

 

Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred)/Ambient

 

Specimen Type: Chorionic villi

Container/Tube: 15-mL tube containing 15 mL of transport media

Specimen Volume: 20 mg

Specimen Stability Information: Refrigerated

 

Acceptable

Specimen Type: Confluent cultured cells

Container/Tube: T-25 flask

Specimen Volume: 2 flasks

Collection Instructions: Submit confluent cultured cells from another laboratory.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Specimen Minimum Volume

Amniotic Fluid: 10 mL
Blood: 1 mL
Chorionic Villi: 5 mg
Blood Spots: 2

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Clinical Information

This test is available to test for the presence of 1 or more mutations previously identified in a family member. Targeted testing is used for diagnostic or predictive testing in cases in which mutations have been previously identified in an affected family member. Targeted testing is available for a specific subset of genes only.

 

Genes Available for Testing*

ABCD1

ACADM

ACADS

ACADVL

AGXT

APC

APOA1

APOA2

ARSA

ARSB

ATP7B

AXIN2

BMPR1A

BRCA1

BRCA2

BTD

CASR

CDH1

CDKN1C

CFTR

CHEK2

CPOX

CPT2

CTRC

DMD

FECH

FGA

FLCN

FTCD

GAA

GALC

GALT

GBA

GLA

GNPTAB

GNS

GRHPR

GRN

GSN

HEXA

HGSNAT

HMBS

IDS

IDUA

LYZ

MAPT

MECP2

MEFV

MLH1

MLH3

MLYCD

MMACHC

MMADHC

MSH2

MSH6

MUTYH

NAGLU

NPC1

NPC2

PKHD1

PMS2

PPOX

PRSS1

PSAP

PTEN

RAI1

RET

SCG5

SDHB

SDHC

SDHD

SEPT9

SGSH

SLC25A20

SMAD4

SMPD1

SPINK1

STK11

SUMF1

TACSTD1/EPCAM

TNFRSF1A

TP53

TTR

UBE3A

VHL

 

 

 

 * FMTT is available for family members of a patient who had testing performed by the molecular genetics laboratory at Mayo Medical Laboratories. For these individuals, FMTT can be used to detect variants in the genes listed in the table above, in addition to any gene (excluding pharmacogenomics variants) via large panels. Contact the laboratory to determine whether adequate DNA is available in the laboratory or if a new proband sample is required.

 

Refer to the following resources for information regarding the listed gene targets. GeneReviews-NCBI Bookshelf, available at www.ncbi.nlm.nih.gov/books/NBK1116/ or OMIM, available at www.omim.org/.

 

Testing may be delayed if the required documentation is not received (ie, patient information sheet).

Reference Values

An interpretive report will be provided.

Interpretation

All detected alterations are evaluated according to American College of Medical Genetics (ACMG) recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424

Day(s) and Time(s) Performed

Monday through Friday, Varies

Analytic Time

10 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FMTT Familial Mutation, Targeted Testing 51966-0

 

Result ID Test Result Name Result LOINC Value
36528 Result Summary 50397-9
36529 Result In Process
36530 Interpretation 69047-9
36531 Additional Information 48767-8
36532 Specimen 31208-2
36533 Source 31208-2
36534 Method 49549-9
36535 Released By No LOINC Needed

Forms

1. Familial Mutation Testing: Required Patient Information (T721) in Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.         

3. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

Hematopathology/Cytogenetics Test Request Form (T726) (http://www.mayomedicallaboratories.com/it-mmfiles/hematopathology-request-form.pdf)

Oncology Test Request Form (T729) (http://www.mayomedicallaboratories.com/it-mmfiles/oncology-request-form.pdf)

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular