Test Catalog

Test Id : NAGR

Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood

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

Carrier detection and diagnosis of Tay-Sachs disease

 

Recommended test for carrier detection of Tay-Sachs disease

 

Carrier detection and diagnosis of Sandhoff disease

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

Testing for Tay-Sachs Disease and Sandhoff Disease

The following tests are available for diagnostic and carrier testing for Tay-Sachs and Sandhoff diseases.

 

NAGR / Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood:

-This is the recommended test for carrier testing for Tay-Sachs disease.

-Testing begins with hexosaminidase A and total enzyme analysis. If the results are consistent with an affected or carrier individual, Tay-Sachs variant analysis will automatically be performed on the original specimen.

-This is not the recommended test for Sandhoff disease; however, if the results are suggestive of Sandhoff disease or carrier status, this will be indicated in the interpretive comment along with recommendations for additional testing. Follow-up testing for Sandhoff must be ordered separately.

-This test is appropriate for males and pregnant or nonpregnant females.

 

NAGW / Hexosaminidase A and Total Hexosaminidase, Leukocytes:

-This test can be used for diagnosis and carrier testing for Tay-Sachs disease or Sandhoff disease.

-Results for hexosaminidase A and total enzyme analysis are reported with recommendations for additional testing when appropriate. All follow-up testing must be ordered separately on new specimens.

-This test is appropriate for males and pregnant or nonpregnant females.

 

NAGS / Hexosaminidase A and Total Hexosaminidase, Serum:

-This is the recommended test for diagnosis and carrier testing for Sandhoff disease. This test also can be used for diagnosis and carrier testing for Tay-Sachs disease.

-Results for hexosaminidase A and total enzyme analysis are reported with recommendations for additional testing when appropriate.

-If results indicate normal, indeterminate, or carrier status and the suspicion of Tay-Sachs disease remains high, MUGS / Hexosaminidase A, Serum for Tay-Sachs disease-B1 variant can typically be added and performed on the same specimen.

-With the exception of MUGS, all follow-up testing must be ordered separately on new specimens.

-This test is not appropriate for pregnant females. This test is appropriate for males and nonpregnant females.

-Although a leukocyte test is preferred for Tay-Sachs disease, this test can be used if it is difficult to obtain enough blood to perform testing, as may be the case with infants. Additionally, the biochemical workup for Tay-Sachs disease could be completed with MUGS testing without collecting a new specimen.

 

MUGS / Hexosaminidase A, Serum:

-This is the recommended test for diagnosis and carrier testing for the B1 variant of Tay-Sachs disease. This test will not detect Sandhoff disease.

-This test is performed on serum using the natural substrate. It should not be ordered as a first-line test. Rather, this test should be ordered when the NAGR, NAGW, NAGS indicate normal, indeterminate, or carrier results and the suspicion of Tay-Sachs disease remains high. In most cases, this test can be performed on the original specimen collected for NAGS.

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
TSDP Tay-Sachs, Mutation Analysis Yes No
CGPH Custom Gene Panel, Hereditary Yes No
HEXBZ HEXB Gene, Full Gene Analysis Yes No

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If hexosaminidase A activity is below 63%, then molecular variant analysis will be performed at an additional charge.

 

Tay-Sachs and Related Disorders Diagnostic Testing Algorithm

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

Heat Inactivation/Fluorometric/Semiautomated

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

Hexosaminidase A and Tot, WBC/Mole

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

B-N-Acetylglucosaminidase

Beta-N-Acetylglucosaminidase

GM2 Gangliosidosis

Hex A Deficiency

Hexosaminidase A

Sandhoff Carrier Screening

Sandhoff Disease

Sandhoff Disease Carrier Screening

Tay Sachs Carrier Screening

Tay Sachs Disease

Tay Sachs Disease Carrier Screening

Tay Sachs Enzyme Testing with Molecular Reflex

Tay-Sachs Carrier Screening

Tay-Sachs Disease (TSD)

Tay-Sachs Disease Carrier Screening

Tay-Sachs Enzyme Testing With Molecular Reflex

TSD (Tay-Sachs Disease)

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If hexosaminidase A activity is below 63%, then molecular variant analysis will be performed at an additional charge.

 

Tay-Sachs and Related Disorders Diagnostic Testing Algorithm

Specimen Type
Describes the specimen type validated for testing

Whole Blood ACD

Shipping Instructions

For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.

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

Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A)

Specimen Volume: 6 mL

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

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. Biochemical Genetics Patient Information (T602) in Special Instructions

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

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

5 mL

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

Gross hemolysis Reject

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
Whole Blood ACD Refrigerated (preferred) 6 days YELLOW TOP/ACD
Ambient 6 days YELLOW TOP/ACD

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

Carrier detection and diagnosis of Tay-Sachs disease

 

Recommended test for carrier detection of Tay-Sachs disease

 

Carrier detection and diagnosis of Sandhoff disease

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

Testing for Tay-Sachs Disease and Sandhoff Disease

The following tests are available for diagnostic and carrier testing for Tay-Sachs and Sandhoff diseases.

 

NAGR / Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood:

-This is the recommended test for carrier testing for Tay-Sachs disease.

-Testing begins with hexosaminidase A and total enzyme analysis. If the results are consistent with an affected or carrier individual, Tay-Sachs variant analysis will automatically be performed on the original specimen.

-This is not the recommended test for Sandhoff disease; however, if the results are suggestive of Sandhoff disease or carrier status, this will be indicated in the interpretive comment along with recommendations for additional testing. Follow-up testing for Sandhoff must be ordered separately.

-This test is appropriate for males and pregnant or nonpregnant females.

 

NAGW / Hexosaminidase A and Total Hexosaminidase, Leukocytes:

-This test can be used for diagnosis and carrier testing for Tay-Sachs disease or Sandhoff disease.

-Results for hexosaminidase A and total enzyme analysis are reported with recommendations for additional testing when appropriate. All follow-up testing must be ordered separately on new specimens.

-This test is appropriate for males and pregnant or nonpregnant females.

 

NAGS / Hexosaminidase A and Total Hexosaminidase, Serum:

-This is the recommended test for diagnosis and carrier testing for Sandhoff disease. This test also can be used for diagnosis and carrier testing for Tay-Sachs disease.

-Results for hexosaminidase A and total enzyme analysis are reported with recommendations for additional testing when appropriate.

-If results indicate normal, indeterminate, or carrier status and the suspicion of Tay-Sachs disease remains high, MUGS / Hexosaminidase A, Serum for Tay-Sachs disease-B1 variant can typically be added and performed on the same specimen.

-With the exception of MUGS, all follow-up testing must be ordered separately on new specimens.

-This test is not appropriate for pregnant females. This test is appropriate for males and nonpregnant females.

-Although a leukocyte test is preferred for Tay-Sachs disease, this test can be used if it is difficult to obtain enough blood to perform testing, as may be the case with infants. Additionally, the biochemical workup for Tay-Sachs disease could be completed with MUGS testing without collecting a new specimen.

 

MUGS / Hexosaminidase A, Serum:

-This is the recommended test for diagnosis and carrier testing for the B1 variant of Tay-Sachs disease. This test will not detect Sandhoff disease.

-This test is performed on serum using the natural substrate. It should not be ordered as a first-line test. Rather, this test should be ordered when the NAGR, NAGW, NAGS indicate normal, indeterminate, or carrier results and the suspicion of Tay-Sachs disease remains high. In most cases, this test can be performed on the original specimen collected for NAGS.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If hexosaminidase A activity is below 63%, then molecular variant analysis will be performed at an additional charge.

 

Tay-Sachs and Related Disorders Diagnostic Testing Algorithm

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

Tay-Sachs and Sandhoff diseases are lysosomal storage disorders, also referred to as GM2 gangliosidoses, caused by deficiencies of the enzymes hexosaminidase A and hexosaminidase B, respectively. These isoenzymes are dimers that differ in their subunit composition. Hexosaminidase A is a heterodimer composed of 1 alpha and 1 beta subunit (alpha-beta), while hexosaminidase B is a homodimer composed of 2 beta subunits (beta-beta). The defective lysosomal degradation and the excessive accumulation of GM2 ganglioside and related glycolipids results in the development of the clinical symptomology observed in Tay-Sachs and Sandhoff diseases.

 

Tay-Sachs disease is an autosomal recessive condition resulting from 2 variants in HEXA, which encodes for the alpha subunit of hexosaminidase. Individuals with Tay-Sachs disease have a deficiency of hexosaminidase A. Variability is observed with respect to age of onset and clinical symptoms.

 

The acute infantile form typically presents with progressive motor deterioration beginning at 3 to 6 months of age. Patients exhibit weakness, hypotonia, and decreasing attentiveness. Motor skills learned previously, such as crawling or sitting alone, are nearly always lost by 1 year of age. Other symptoms include rapid diminishing of vision, seizures, macrocephaly due to cerebral gliosis, and the characteristic cherry-red spot in the retina. Affected individuals typically do not survive past 5 years of age.

 

The juvenile or subacute form of Tay-Sachs disease often presents between 2 and 10 years with ataxia and clumsiness. Patients develop difficulties with speech and cognition. Neurologic features progressively worsen, and death is typically 2 to 4 years later.

 

Disease progression is slower in patients with chronic or adult-onset Tay-Sachs disease. Early signs and symptoms may be subtle and nonspecific, involving muscle and/or neurologic findings, often resulting in initial misdiagnoses. Affected individuals may exhibit abnormalities of gait and posture, spasticity, dysarthria, and progressive muscle wasting and weakness. Cognitive impairment, dementia, or psychiatric findings are observed in some patients. Significant clinical variability exists both between and within families.

 

The carrier frequency of Tay-Sachs disease is increased in certain groups including individuals of Ashkenazi Jewish, Celtic, and French-Canadian ancestry. A common cause of false-positive carrier screening by enzyme analysis, particularly among individuals of non-Ashkenazi Jewish descent, is due to the presence of pseudodeficiency alleles. Such sequence variations are not associated with disease but result in the production of a hexosaminidase A enzyme with decreased activity towards the artificial substrate typically used in the enzyme assay. The recommended testing strategy is to order NAGR / Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood, which begins with enzyme analysis and when the percent of hexosaminidase A enzyme is low, reflexes to the molecular panel that includes the most common genetic variants observed in these high-risk populations and 2 common pseudodeficiency alleles.

 

Sandhoff disease is an autosomal recessive condition resulting from 2 variants in HEXB, which encodes for the beta subunit of hexosaminidase. Individuals with Sandhoff disease have deficiencies in both hexosaminidase A and hexosaminidase B. Phenotypically, patients with Sandhoff disease present with features very similar to Tay-Sachs disease including variability in age of onset and severity. Enzyme analysis is generally required to distinguish between the 2 disorders. Unlike Tay-Sachs disease, Sandhoff disease does not have an increased carrier frequency in any specific population.

 

Testing for Tay-Sachs and Sandhoff diseases occurs by analysis of hexosaminidase A, a heat-labile enzyme, and total hexosaminidase (hexosaminidase A plus hexosaminidase B). When testing the enzyme, an artificial substrate is most commonly used. The total hexosaminidase is quantified. Following this, heat inactivation of hexosaminidase A occurs with a second measurement of the total enzyme level. From this, the percent hexosaminidase A is calculated. Biochemically, Tay-Sachs disease is characterized by normal total hexosaminidase with a very low percent hexosaminidase A. Carriers of Tay-Sachs disease are asymptomatic but have intermediate percent hexosaminidase A in serum and leukocytes. Follow-up molecular testing is recommended for all individuals with enzyme results in the carrier or possible carrier ranges to differentiate carriers of a pseudodeficiency allele from those with a disease-causing variant. In addition, this allows for the facilitation of prenatal diagnosis for at-risk pregnancies.

 

A very small group of patients affected with Tay-Sachs disease have alterations referred to as the B1 variant. In the presence of an artificial substrate, the B1 variant allows for a heterodimer formation of hexosaminidase A and exhibits activity. However, in vivo the B1 variant hexosaminidase A is inactive on the natural substrate. Thus, with the artificial substrate, these patients appear to be unaffected. Individuals with the B1 variant of Tay-Sachs disease must be distinguished using a natural substrate assay (MUGS / Hexosaminidase A, Serum). Clinically, patients with at least one B1 variant typically become symptomatic beyond the infantile period. This testing should be considered if one of the other assays indicates normal, indeterminate, or carrier results and the suspicion of Tay-Sachs disease remains high.

 

Hexosaminidase testing using the artificial substrate provides an indirect assay for Sandhoff disease. Affected individuals exhibit very low total hexosaminidase with a disproportionately high percent hexosaminidase A due to alpha subunit homodimer formation. Carriers of Sandhoff disease are asymptomatic but have intermediate levels of total hexosaminidase with high percent hexosaminidase A in serum and leukocytes. However, not all individuals with this pattern are true carriers of Sandhoff disease and follow-up molecular testing is recommended. In addition, molecular analysis allows for the facilitation of prenatal diagnosis for at-risk pregnancies. Testing hexosaminidase using the natural substrate does not identify homozygotes or heterozygotes for Sandhoff disease.

 

For additional testing options for Tay-Sachs and Sandhoff disease, see NAGW / Hexosaminidase A and Total Hexosaminidase, Leukocytes (Tay-Sachs disease only) and NAGS / Hexosaminidase A and Total Hexosaminidase, Serum (Tay-Sachs and Sandhoff diseases (not appropriate for Sandhoff detection in females who are pregnant or receiving hormonal contraception).

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.

HEXOSAMINIDASE TOTAL

< or =15 years: > or =20 nmol/min/mg

> or =16 years: 16.4-36.2 nmol/min/mg

 

HEXOSAMINIDASE PERCENT A

< or =15 years: 20-80% of total

> or =16 years: 63-75% of total

Interpretation
Provides information to assist in interpretation of the test results

Interpretation is provided with report.

 

Hexosaminidase A usually composes greater than 62% of the total hexosaminidase activity in leukocytes (normal = 63%-75% A).

 

In leukocytes, the percent Hex A is used in determining whether an individual is a carrier of or affected with Tay-Sachs disease:

-63% to 75% hexosaminidase A is normal (noncarrier)

-58% to 62% hexosaminidase A is indeterminate (molecular testing recommended to discern carriers from non-carriers and to allow for prenatal diagnosis if desired)

-less than 58% hexosaminidase A is a carrier (molecular testing recommended to discern disease-causing variants from pseudodeficiency alleles and to allow for prenatal diagnosis if desired)

-less than 20% hexosaminidase A is consistent with a diagnosis of Tay-Sachs disease.

 

In leukocytes, the total hexosaminidase in combination with the percent hexosaminidase A aids in determining whether an individual is at-risk to be a carrier of or is affected with Sandhoff disease:

-greater than or equal to 76% hexosaminidase A is suggestive of a Sandhoff carrier, when the total hexosaminidase is depressed

-Total hexosaminidase activity near zero with nearly 100% hexosaminidase A is consistent with Sandhoff disease

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

A small percentage (<0.5%) of carriers may exhibit normal hexosaminidase A activity and will not be detected by this method.(1)

 

GM2 activator deficiency (GM2-gangliosidosis, AB variant) is a rare disorder with clinical features similar to Tay-Sachs and Sandhoff diseases; however, levels of both hexosaminidase A and B are normal. GM2 activator deficiency cannot be identified through testing offered at Mayo Clinic Laboratories.

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

1. Triggs-Raine BL, Feigenbaum ASJ, Natowicz M, et al: Screening for carriers of Tay-Sachs disease among Ashkenazi Jews-A comparison of DNA-based and enzyme-based tests. N Engl J Med. 1990;323:6-12

2. Delnooz CCS, Lefeber DJ, Langemeijer SMC, et al: New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. J Neurol Neurosurg Psychiatry. 2010;81(9):968-972

3. Vallance H, Morris TJ, Coulter-Mackie M, et al: Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. Mol Genet Metab. 2006 Feb;87(2):122-127

4. Toro C, Shirvan L, Tifft C: HEXA disorders. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1999. Updated October 1, 2020. Accessed March 29, 2021. Available at www.ncbi.nlm.nih.gov/books/NBK1218/

5. Neudorfer O, Pastores GM, Zeng BJ, et al: Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med. 2005 Feb;7(2):119-123

6. Sutton VR: Tay-Sachs disease screening and counseling families at risk for metabolic disease. Obstet Gynecol Clin North Am. 2002 Jun;29(2):287-296

7. Gravel RA, Kaback MM, Proia RL, Sandhoff K, Suzuki K, Suzuki K: The GM2 gangliosidoses. In: Valle D, Antonarakis S, Ballabio A, Beaudet A, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill. Accessed January 30, 2020. Available at http://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225547784

8. D'Souza G, McCann CL, Hedrick J, et al: Tay-Sachs disease carrier screening: a 21-year experience. Genet Test. 2000;4(3):257-263

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

Leukocyte hexosaminidase A and total hexosaminidase are estimated using a semiautomated modification of the method of O'Brien, et al (1970) with further specific recommendations on specimen preparation as outlined by the International Tay-Sachs Disease Testing Quality Control and Data Collection Center.(O'Brien JS, Okada S, Chen A, Fillerup DL: Tay-Sachs disease: detection of heterozygotes and homozygotes by hexosaminidase assay. N Engl J Med. 1970;283:15-20; Cowan T, Pasquali M: Laboratory investigations of inborn errors of metabolism. In: Sarafoglou K, Hoffman GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill; 2017:1139-1158)

 

A non-polymerase chain reaction (PCR)-based assay using Invader technology available as an ASR (analyte-specific reagent) from Third Wave Technologies (USA) is used to test for the exon 11 (1278insTATC), intron 12 (IVS12[+1]G>C), and exon 7 (G269S) alterations within the alpha-chain of the lysosomal enzyme beta-hexosaminidase A gene. The Invader reaction takes advantage of the specificity of a Cleavase enzyme in recognizing the 3-dimensional structure formed by an invading oligonucleotide, a primary oligonucleotide probe with a 5' flap, and the nucleic acid target of interest. The Invader reaction releases thousands of flap sequences per hour that are detected by a FRET (fluorescent resonance energy transfer) cassette. This reaction allows for linear amplification and also reduces the potential for contamination with amplified target sequence that can occur with PCR.(de Arruda M, Lyamichev VI, Eis PS, et al: Invader technology for DNA and RNA analysis: principles and applications. Expert Rev Mol Diagn. 2002;2:487-496; Grody WW, Griffin JH, Taylor AK, et al: American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet Med. 2001;3:139-148; Cowan T, Pasquali M: Laboratory investigations of inborn errors of metabolism. In: Sarafoglou K, Hoffman GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill; 2017:1139-1158)

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.

Preanalytical processing occurs Monday through Saturday.

Assay is performed: 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.

4 to 8 days

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

WBC homogenate: 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.

83080 x 2

81255-HEXA (hexosaminidase A, alpha polypeptide) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S) (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