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

-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.

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 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
_G126 Gene G6PD_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
CRYOB Cryopreserve for Biochem Studies No No
FIBR Fibroblast Culture Yes No

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

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.

Yes

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

FMTT

KVAR

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

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

This test can only be performed if a variant was previously detected in a family member of this individual. Please contact the laboratory for further information regarding requests for germline confirmation of somatic results or clinical confirmation of research results.

Additional Testing Requirements

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

 

If the familial variant was previously identified at an outside laboratory, sending a proband sample (ie, blood or DNA from a family member with a positive genetic test result) to be used as a positive control is strongly recommended to ensure that the specific familial variant can be detected by our laboratory. Proband samples should be sent as a separate FMTT order, under the proband's identifiers (ie, do not send the patient and proband samples under the same order). If a positive control is not provided, the possibility of a false negative result should be considered.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Necessary Information

The identification of a specific variant in an affected family member is required before this test can be performed for additional family members. If a familial variant has not been previously identified, call 800-533-1710 to discuss testing options.

 

Familial Mutation Testing: Required Patient Information form (T721) with documentation of the specific familial variant(s) is required. Testing will be held until information is received. If information is not received within 14 days of sample receipt, testing may be canceled.

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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.

 

Submit only 1 of the following specimen types:

 

Preferred:

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions: Send specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 14 days

 

Specimen Type: Blood spot

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

Container/Tube:

Preferred: Collection card (Whatman Protein Saver 903 Paper)

Acceptable: Whatman FTA Classic paper, PerkinElmer 226 (formerly Ahlstrom 226) filter paper, or 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 or older is a fingerstick. For infants younger than 1 year, a heel stick should be used. See Dried Blood Spot Collection Tutorial for how to collect blood spots via fingerstick.

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

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions

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

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

 

Specimen Type: Cultured fibroblasts

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

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

Additional Information: Indicate the tests to be performed on the fibroblast culture cells. A separate culture charge will be assessed under FIBR / Fibroblast Culture, Tissue. An additional 4 weeks is required to culture fibroblasts before genetic testing can occur.

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

 

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.

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional Information: A separate culture charge will be assessed under FIBR / Fibroblast Culture, Tissue. An additional 4 weeks is required to culture fibroblasts before genetic testing can occur.

 

Specimen Type: Cord blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions:

1. Send specimen in original tube

2. Label specimen as cord blood

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 14 days

 

Specimen Type: Extracted DNA

Container/Tube: 2 mL screw top tube

Specimen Volume: 100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 250 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated

 

Prenatal Specimens

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

 

Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional Information: A separate culture charge will be assessed under CULAF / Culture for Genetic Testing, Amniotic Fluid.

 

Specimen Type: Cultured amniocytes

Container/Tube: T-25 flask

Specimen Volume: 2 Full flasks

Collection Instructions: Submit confluent cultured cells from another laboratory.

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Chorionic villi

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

Specimen Volume: 20 mg

Specimen Stability Information: Refrigerated

Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Genetic Testing, Tissue.

 

Specimen Type: Cultured chorionic villi

Container/Tube: T-25 flasks

Specimen Volume: 2 Full 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. 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

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: 10 mg

Blood Spots: 2

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

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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 Type Temperature Time Special Container
Varies Varies (preferred)

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

-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.

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

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

This test is available for the analysis of up to 4 genetic variants (single nucleotide variant, small insertion/deletion, or exon level deletion/duplication).Targeted testing is used for diagnostic or predictive testing in family members of an affected individual with a previously detected variant, carrier screening, segregation analysis, confirmation of research results, or testing for germline status of a variant detected by somatic or tumor testing. This test is available for any of the genes on Mayo Clinic Laboratories' (MCL) test menu. In addition, genes not on the MCL test menu may be able to be tested. Call the laboratory at 800-533-1710 with specific inquiries.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

Evaluation and categorization of variants is performed using 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.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Clinical Correlations:

The identification of a disease-associated variant in an affected family member is necessary before predictive testing for other family members can be performed. Call 800-533-1710 to discuss testing options if a familial variant has not been previously identified.

 

Test results should be interpreted in the context of clinical findings, family history, and other laboratory testing. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

 

Technical Limitations:

Rare allelic variants may be present and could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

 

Analysis is performed for the familial variants provided only. This assay does not rule out the presence of other variants within this gene or within other genes that may be associated with the familial condition. Note: Analysis of the area surrounding the familial variant may be required in the performance of this assay, which could result in identification of additional variants. Contact the laboratory with any questions regarding assay performance.

 

In addition to disease-related probes, the multiplex ligation-dependent probe amplification technique utilizes probes localized to other chromosomal regions as internal controls. In certain circumstances, these control probes may detect other diseases or conditions for which this test was not specifically intended. Results of the control probes are not normally reported. However, in cases where clinically relevant information is identified, the ordering physician will be informed of the result and provided with recommendations for any appropriate follow-up testing.

 

Reclassification of Variants Policy:

At this time, it is not standard practice for the laboratory to systematically review previously classified variants on a regular basis. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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

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

Method Description
Describes how the test is performed and provides a method-specific reference

DNA sequencing and/or dosage analysis by, quantitative polymerase chain reaction, array comparative genomic hybridization, or multiplex ligation-dependent probe amplification is utilized to test for the presence of the specific variants previously identified in a family member or via alternate testing (research, somatic).(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

15 to 22 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Whole Blood: 2 weeks (if available); Extracted DNA: 3 months; Blood Spot: 1 year; Cultured fibroblasts, skin biopsy, cord blood, amniotic fluid, cultured amniocytes, chorionic villi, cultured chorionic villi: 1 month

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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 US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

Gene

CPT Code
(as appropriate)

Any gene not listed below

81403

APC

81202

APC

81202

BRCA1

81215

BRCA2

81217

CACNA1A

81186

CFTR

81221

CSTB

81190

G6PD

81248

GJB2

81253

HBA1

81258

HBA2

81258

HBB

81362

MECP2

81303

MLH1

81293

MSH2

81296

MSH6

81299

PMP22

81326

PMS2

81318

PTEN

81322

SMN1

81337

TP53

81353

 

81265-Maternal cell contamination (if appropriate)

88233-Tissue culture, skin or solid tissue biopsy (if appropriate)

88235-Tissue culture for amniotic fluid (if appropriate)

88240-Cryopreservation (if appropriate)

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports