Test Catalog

Test Id : MULT

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Zygosity Testing (Multiple Births), Varies

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Overview

Test Catalog

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

Determining genetic risk for an individual whose twin or triplet is affected with a genetic disorder for which a specific genetic test is not available (or such testing is uninformative)

 

Assessment of risks prenatally when one fetus of multiples is known to be affected by a specific disorder

 

Organ or bone marrow transplantation compatibility testing

 

Familial or parental interest

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

DNA from twins and their parents is used to determine if the twins are identical (monozygotic) or fraternal (dizygotic).

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
CULFB Fibroblast Culture for Genetic Test Yes No
CULAF Amniotic Fluid Culture/Genetic Test Yes No
_STR1 Comp Analysis using STR (Bill only) No No
_STR2 Add'l comp analysis w/STR (Bill Only) No 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.

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

Polymerase Chain Reaction (PCR)/Microsatellite Markers

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

Zygosity Testing (Multiple Births)

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

Identical Twins

Multiple Births

Triplets

Twins

ZYG

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.

Specimen Type
Describes the specimen type validated for testing

Varies

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Necessary Information

A blood specimen from both parents, in addition to a specimen from each multiple, is required.

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. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Prenatal Specimens

Due to its complexity, consultation with the laboratory is required for all prenatal testing; call 800-533-1710 to speak to a genetic counselor. 

 

Specimen Type: Amniotic fluid 

Container/Tube: Amniotic fluid container 

Specimen Volume: 20 mL 

Specimen Stability Information: Refrigerated (preferred)/Ambient 

Additional information:  

1. A separate culture charge will be assessed under CULAF / Culture for Genetic Testing, Amniotic Fluid. An additional 2 to 3 weeks is required to culture amniotic fluid before genetic testing can occur. 

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

? 

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:  

1. A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur. 

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

 

Acceptable: 

Specimen Type: Confluent cultured amniocytes 

Container/Tube: T-25 flask 

Specimen Volume: 2 Flasks 

Collection Instructions: Submit confluent cultured amniocytes from another laboratory. 

Specimen Stability Information: Ambient (preferred)/Refrigerated 

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

 

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. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions

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

Blood: 0.5 mL

Amniotic Fluid: 10 mL

Chorionic Villi: 5 mg

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

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

Determining genetic risk for an individual whose twin or triplet is affected with a genetic disorder for which a specific genetic test is not available (or such testing is uninformative)

 

Assessment of risks prenatally when one fetus of multiples is known to be affected by a specific disorder

 

Organ or bone marrow transplantation compatibility testing

 

Familial or parental interest

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

DNA from twins and their parents is used to determine if the twins are identical (monozygotic) or fraternal (dizygotic).

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.

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

Approximately 30% of twins are monozygotic (identical), while 70% are dizygotic (nonidentical or fraternal). Monozygotic twins originate from a single egg and, by definition, have identical DNA markers throughout their genomes. Dizygotic twins, on the other hand, inherit their genetic complement independently from each parent and are no more likely to have genetic material in common than are any other full siblings.

 

Polymorphic DNA markers have been identified. DNA markers are regions of DNA that display normal variability in the type or the number of nucleotide bases at a given location. One class of repetitive DNA that exhibits marked variability is microsatellites. With the use of such markers, it is possible to distinguish one individual from another because of differences detected at these polymorphic loci. Utilizing polymerase chain reaction followed by capillary electrophoresis, the genotypes of a set of twins (triplets, etc) are derived from the analysis of multiple markers. This genotype is compared to those of their parents to determine if the children are mono- or dizygotic. Any differences detected between siblings' microsatellite markers indicate dizygosity.

 

Many disorders are known to occur on a genetic basis though the genes have not been identified for all of them. If one member of a set of twins is diagnosed with a genetic disorder, determination of zygosity, in addition to other testing, may provide additional information regarding risk assessment of unaffected individuals. In addition, zygosity can be useful when evaluating for twin-twin transfusion syndrome during pregnancy or as part of a pre-organ transplant workup for situations where one twin is donating an organ to another twin.

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

An interpretive report will be provided.

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

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

 

This test will detect nonpaternity. Chain of custody documentation is not available. This test is not intended for medico-legal or forensic purposes.

 

Availability of a specimen from all family members (multiples and parents) provides the most accurate results. If parental blood is not available, markers may not be informative.

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

1. Appleman Z, Manor M, Magal N, Caspi B, Shohat M, Blickstein I: Prenatal diagnosis of twin zygosity by DNA "fingerprint" analysis. Prenat Diagn. 1994 Apr;14(4):307-309

2. Neitzel H, Digweed M, Nurnberg P, et al: Routine applications of DNA fingerprinting with the oligonucleotide probe (CAC)5/(GTG)5. Clin Genet. 1991 Feb;39(2):97-103

3. Allen RW, Polesky HF: Parentage and Relationship Testing. In: Leonard DGB, ed. Molecular Pathology in Clinical Practice. 2nd ed. Springer International Publishing; 2016:811-821

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

Polymerase chain reaction-based assays that recognize highly variable regions of human DNA are used to provide a genotype for multiples and their parents. The number of markers (microsatellites) used is determined on a case-by-case basis to ensure greater than 99.9% predictive value. Calculation of zygosity probability is made using Bayesian analysis.(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

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.

5 to 12 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

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 account representative. 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. It 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.

81265-Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (eg, pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [eg, buccal swab or other germline tissue sample] and donor testing, twin zygosity testing or maternal cell contamination of fetal cells

 

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

88235-Tissue culture for amniotic fluid (if appropriate)

88240-Cryopreservation (if appropriate)

81266-Each additional specimen (eg additional cord blood donor, additional fetal samples from different cultures, or additional zygosity in multiple birth pregnancies) (as needed)

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
MULT Zygosity Testing (Multiple Births) 55198-6
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
53322 Result Summary 50397-9
53323 Result 69548-6
53324 Interpretation 69965-2
53349 Reason for Referral 42349-1
53325 Specimen 31208-2
53326 Source 31208-2
53327 Method 85069-3
53328 Released By 18771-6

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 | PHP Pdf | CMS 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