Test ID: FMTT Familial Mutation, Targeted Testing, Varies
Useful For
Diagnostic or predictive testing for specific conditions when 1 or more variants have been identified in a family member
Carrier screening for individuals at risk for having a variant 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 |
_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 |
_G087 | Gene DMD_MLPA | No, (Bill Only) | No |
_G088 | Gene PMP22_MLPA | No, (Bill Only) | No |
_G089 | Gene MPZ_MLPA | No, (Bill Only) | No |
_G102 | Gene SERPINA1 | No, (Bill Only) | No |
_G112 | Gene SDHAF2 | No, (Bill Only) | No |
_G113 | Gene TMEM127 | No, (Bill Only) | No |
_G114 | Gene MAX | No, (Bill Only) | No |
_G115 | Gene SMN1 | No, (Bill Only) | No |
_G125 | Gene PMP22_SEQ | No, (Bill Only) | No |
_G127 | Gene GJB2_SEQ | No, (Bill Only) | No |
_G128 | Gene HBA1/HBA2_SEQ | No, (Bill Only) | No |
_G129 | Gene HBB_SEQ | No, (Bill Only) | No |
_G130 | Known Familial Variant,Other | No, (Bill Only) | No |
G168 | Gene CSTB | No, (Bill Only) | No |
G169 | Gene CACNA1A | 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.
Testing for variants detected by whole exome sequencing (WES) or large panels: Any familial mutation targeted testing (FMTT) orders for a variant that was detected by WES or next-generation sequencing (NGS) large panel assays requires a proband sample that has been previously tested at Mayo Clinic Laboratories. Contact the laboratory to determine whether adequate DNA is available in the laboratory or if a new proband sample is required.
The following algorithms are available in Special Instructions:
-Fabry Disease Diagnostic Testing Algorithm
-Fabry Disease: Newborn Screen-Positive Follow-up
-Full Gene Analysis/Multi-Gene Panels versus Familial Mutation Targeted Testing
-Lynch Syndrome Testing Algorithm
-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
Special Instructions
- Informed Consent for Genetic Testing
- Fabry Disease Diagnostic Testing Algorithm
- Fabry Disease: Newborn Screen-Positive Follow-up
- 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
- Lynch Syndrome Testing Algorithm
- Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
- Informed Consent for Genetic Testing (Spanish)
- Blood Spot Collection 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 TestingSpecimen Type
VariesAdvisory Information
This test can only be performed if a variant has previously been identified in a family member of this individual.
Additional Testing Requirements
All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies 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.
Necessary Information
Testing may be delayed if the required documentation is not received (ie, Familial Mutation Testing: Required Patient Information [T721]) in Special Instructions.
Specimen Required
Refer to Genetics Information for a complete list of genes tested by specimen type.
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
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 Collection (Filter Paper) (T493)
Preferred: Collection card (Whatman Protein Saver 903 Paper)
Acceptable: Ahlstrom 226 filter paper, or Card-Blood Spot Collection Card
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
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions in Special Instructions.
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Type: Tissue
Container/Tube: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.
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).
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 | Special Container |
---|---|---|---|
Varies | Varies |
Clinical Information
This test is available to test for the presence of 1 or more variants previously identified in a family member. Targeted testing is used for diagnostic or predictive testing in cases in which variants have been previously identified in an affected family member. Targeted testing is available for the genes listed in the table below or variants in genes detected previously by large panels or whole exome sequencing (WES) at Mayo Clinic Laboratories.
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 |
G6PD |
GAA |
GALC |
GALT |
GBA |
GJB2 |
GLA |
GNPTAB |
GNS |
GRHPR |
GRN |
GSN |
HEXA |
HBA1/HBA2 |
HBB |
HGSNAT |
HMBS |
IDS |
IDUA |
LYZ |
MAPT |
MAX |
MECP2 |
MLH1 |
MLH3 |
MLYCD |
MMACHC |
MMADHC |
MSH2 |
MSH6 |
MUTYH |
NAGLU |
NPC1 |
NPC2 |
PKHD1 |
PMS2 |
PMP22 |
PPOX |
PRSS1 |
PSAP |
PTEN |
RAI1 |
RET |
SERPINA1 |
SCG5 |
SDHAF2 |
SDHB |
SDHC |
SDHD |
SEPT9 |
SGSH |
SLC25A20 |
SMAD4 |
SMN1 |
SMPD1 |
SPINK1 |
STK11 |
SUMF1 |
TACSTD1/EPCAM |
THEM127 |
TP53 |
TTR |
UBE3A |
VHL |
|
|
|
*FMTT is available for family members of a patient who had testing performed by the Genomics Laboratory at Mayo Clinic Laboratories. For these individuals, this test can be used to detect variants in the genes listed in the table above, in addition to any gene detected via large panels or WES. 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/.
Reference Values
An interpretive report will be provided.
Interpretation
All detected alterations are evaluated according to American College of Medical Genetics and Genomics (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 daysTest 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 | 82939-0 |
36530 | Interpretation | 69047-9 |
36531 | Additional Information | 48767-8 |
36532 | Specimen | 31208-2 |
36533 | Source | 31208-2 |
36534 | Method | 85069-3 |
36535 | Released By | 18771-6 |
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Familial Mutation Testing: Required Patient Information (T721) in Special Instructions
3. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
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