| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Test Id : DBMD
Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies
Useful For
Suggests clinical disorders or settings where the test may be helpful
Suggests clinical disorders or settings where the test may be helpful
Confirmation of a clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD)
Distinguishing DMD from BMD in some cases, based on the type of deletion detected (allows for better prediction of prognosis)
Determination of carrier status in family member at risk for DMD or BMD
Prenatal diagnosis of DMD or BMD in at-risk pregnancies
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test is for genetic deletions and duplications only.
If testing is being performed due to family history, documentation regarding the familial variant before testing an asymptomatic individual or proceeding with carrier testing is preferred.
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.
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 |
| MATCC | Maternal Cell Contamination, B | Yes | No |
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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 and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
See Neuromuscular Myopathy Testing Algorithm in Special Instructions.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
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
A short description of the method used to perform the test
Dosage Analysis by Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
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
Lists a shorter or abbreviated version of the Published Name for a test
DMD/BMD Deletion/Duplication
Aliases
Lists additional common names for a test, as an aid in searching
Lists additional common names for a test, as an aid in searching
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Dystrophinopathy
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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 and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
See Neuromuscular Myopathy Testing Algorithm in Special Instructions.
Specimen Type
Describes the specimen type validated for testing
Describes the specimen type validated for testing
Varies
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.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
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 specimens:
Preferred:
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. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
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
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
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: Neurology Patient Information in Special Instructions
3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Blood: 1 mL
Amniotic Fluid: 10 mL
Chorionic Villus: 5 mg
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
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
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
Suggests clinical disorders or settings where the test may be helpful
Confirmation of a clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD)
Distinguishing DMD from BMD in some cases, based on the type of deletion detected (allows for better prediction of prognosis)
Determination of carrier status in family member at risk for DMD or BMD
Prenatal diagnosis of DMD or BMD in at-risk pregnancies
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test is for genetic deletions and duplications only.
If testing is being performed due to family history, documentation regarding the familial variant before testing an asymptomatic individual or proceeding with carrier testing is preferred.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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 and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
See Neuromuscular Myopathy Testing Algorithm in Special Instructions.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized initially by proximal muscle weakness beginning before age 5 years. Affected individuals typically have pseudohypertrophy of the calf muscles and exhibit toe-walking, waddling gait, and the Gower sign (climbing up the legs when rising from a seated position on the floor). Not only is skeletal muscle affected in DMD but also the smooth muscle of the gastrointestinal tract, and possibly bladder, as well as cardiac muscle.
Initial symptoms are followed by dramatic progression of weakness leading to loss of ambulation by age 11 or 12. Death is often caused by cardiac failure or by respiratory failure before age 30 years unless ventilator support is provided.
The allelic Becker muscular dystrophy (BMD) has a similar presentation, although age of onset is later, and the clinical course is much milder. Cardiac involvement can be the only sign and patients are often ambulatory into their thirties.
DMD and BMD are caused by variants in the DMD gene, which encodes for dystrophin. Approximately 50% to 65% of patients have intragenic deletions and approximately 5% to 10% have intragenic duplications. Less frequently, DMD and BMD result from nondeletion and nonduplication variants, which are not detected by this assay.
Approximately one-third of sporadic cases of DMD/BMD occur due to new variants. In sporadic cases, it is possible for the mother of an affected individual to have germline mosaicism. This means that the germ cells may contain a variant even if the variant is not detected in peripheral blood. In cases of germline mosaicism, which occurs with a frequency of up to 15%, further offspring are at risk for inheriting a dystrophin variant.
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.
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
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
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
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.
This test may not detect deletions/duplications present in very low levels of mosaicism
Rare alterations (ie, polymorphisms) exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.
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.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
Recommendations for in-depth reading of a clinical nature
1. Thompson MW, McInnes RR, Willard HF: Genetics in Medicine. 5th ed. WB Saunders Company; 1991:367-372
2. Desquerre I, Christov C, Mayer M, et al: Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS One. 2009;4(2):e4347. doi: 10.1371/journal.pone.0004347
3. Verma S, Anziska Y, Cracco J: Review of Duchenne muscular dystrophy (DMD) for the pediatricians in the community. Clin Pediatr (Phila). 2010;49(11):1011-1017. doi: 10.1177/0009922810378738
Special Instructions
Library of PDFs including pertinent information and forms related to the test
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
Describes how the test is performed and provides a method-specific reference
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
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.
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.
Batched 1 time per week
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.
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.
14 to 21 days
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
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
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.
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.
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.
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.
CPT codes are provided by the performing laboratory.
81161-DMD (dystrophin) (eg, Duchenne/Becker muscular dystrophy) deletion analysis and duplication analysis, if performed
Fibroblast Culture for Genetic Test
88233-Tissue culture, skin or solid tissue biopsy (if appropriate)
88240-Cryopreservation (if appropriate)
Amniotic Fluid Culture/Genetic Test
88235-Tissue culture for amniotic fluid (if appropriate)
88240-Cryopreservation (if appropriate)
Maternal Cell Contamination, B
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 (if appropriate)
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.
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 |
|---|---|---|
| DBMD | DMD/BMD Deletion/Duplication | 75385-5 |
| 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.
|
|---|---|---|
| 55261 | Result Summary | 50397-9 |
| 55262 | Result | 75385-5 |
| 55263 | Interpretation | 69047-9 |
| 55264 | Specimen | 31208-2 |
| 55265 | Source | 31208-2 |
| 55266 | 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.
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.
Normal and Abnormal sample reports are provided as references for report appearance.
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.
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.