Test Catalog

Test ID: FMTT    
Familial Mutation, Targeted Testing

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 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 WES or large panels: 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 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:

-Full Gene Analysis/Multi-Gene Panels versus Familial Mutation Targeted Testing

-Lynch Syndrome Testing Algorithm

-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm

Specimen Type Describes the specimen type validated for testing

Varies

Advisory Information

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

 

The preferred specimen for FMTT is whole blood.  Other specimens may be acceptable for certain genes as follows. 

 

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, SMN1, 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, SMN1, 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, SMN1, 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 Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Refer to Advisory 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 (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: Tissue

Container/Tube: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.

 

Additional Information:

1. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

2. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.

 

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

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

Forms

1. 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.         

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

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

-Hematopathology/Cytogenetics Test Request (T726)

-Oncology Test Request (T729)

Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

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

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

No specimen should be rejected.

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen TypeTemperatureTime
VariesVaries