Duchenne Muscular Dystrophy test - Clinical Genetic Test - GTR

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Duchenne Muscular Dystrophy test

Clinical Genetic Test

offered by

Genetics and Genomic Medicine Centre

GTR Test Accession: GTR000569520.2

INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more

Last updated in GTR: 2020-10-10

Last annual review date for the lab: 2023-09-27

At a Glance

Test purpose:

Diagnosis; Drug Response; Mutation Confirmation; ...

Conditions (2):

Becker muscular dystrophy; Duchenne muscular dystrophy

Genes (1):

DMD (Xp21.2-21.1)

Methods (1):

Molecular Genetics - Deletion/duplication analysis: Multiplex PCR

Target population:

Male population with walking difficulty, difficulty in standing from sitting, …

Clinical validity:

Approximately 65% of patients with DMD have deletions, 7% to …

Clinical utility:

Guidance for selecting a drug therapy and/or dose

Ordering Information

Offered by:

Genetics and Genomic Medicine Centre
View lab's website

Test short name:

DMD test

Specimen Source:

Buccal swab
Isolated DNA
Peripheral (whole) blood
Saliva
View specimen requirements

Who can order:

Health Care Provider
Licensed Physician

Test Order Code:

DMD test

Lab contact:

Hosneara Akter, MS, Lab Director
hosneara@neurogenbd.com

Contact Policy:

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

How to Order:

Upon physician/health care providers recommendation Patient have to come to Neurogen or relevant sample can be sent to Neurogen through FeDex, DHL or other suitable means along with the copy of test recommendation. Patient/ parent have to fill out the patient information form and sign consent form. If the patient …

View more
Order URL

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Result interpretation

Test additional service:

Custom mutation-specific/Carrier testing

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Yes

Test strategy:

Mutiplex PCR

View citations (2)

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Beggs AH, et al. Hum Genet. 1990;86(1):45-8. doi:10.1007/BF00205170. PMID: 2253937.
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Chamberlain JS, et al. Nucleic Acids Res. 1988;16(23):11141-56. doi:10.1093/nar/16.23.11141. PMID: 3205741.

Pre-test genetic counseling required:

Yes

Post-test genetic counseling required:

Yes

Conditions

Total conditions: 2

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument *

Deletion/duplication analysis

Multiplex PCR

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis; Drug Response; Mutation Confirmation; Pre-symptomatic; Predictive; Risk Assessment; Screening; Therapeutic management

Clinical validity:

Approximately 65% of patients with DMD have deletions, 7% to 10% have duplications, and 25% to 30% have point mutations in one or more of the 79 exons of the dystrophin gene. Sequencing this huge gene is time-consuming and, fortunately, the deletions in this gene are non-randomly distributed with many … View more

View citations (3)

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Den Dunnen JT, et al. Am J Hum Genet. 1989;45(6):835-47. PMID: 2573997.
Exon deletion pattern in duchene muscular dystrophy in north west of iran. Barzegar M, et al. Iran J Child Neurol. 2015;9(1):42-8. PMID: 25767538.
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Koenig M, et al. Cell. 1987;50(3):509-17. doi:10.1016/0092-8674(87)90504-6. PMID: 3607877.

Clinical utility:

Guidance for selecting a drug therapy and/or dose

View citations (2)

Target population:

Male population with walking difficulty, difficulty in standing from sitting, weak hand,muscle weakness,cannot jump,Can't walk in smooth places, unable to sit without support. Female relatives of men and boys with DMD can undergo DNA testing to see if they are carriers of the disease

View citations (1)

Ryder S, Leadley RM, Armstrong N, Westwood M, de Kock S, Butt T, Jain M, Kleijnen J. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017;12(1):79. doi:10.1186/s13023-017-0631-3. Epub 2017 Apr 26. PMID: 28446219.

Variant Interpretation:

What is the protocol for interpreting a variation as a VUS?
NeuroGen follows ACMG guideline

Are family members with defined clinical status recruited to assess significance of VUS without charge?
No.

Will the lab re-contact the ordering physician if variant interpretation changes?
Yes. After issuing the report, if the genetic tests results changes over time we systematically re-evaluate prior interpretations and generate new reports and update patients about changes in test interpretation.

Research:

Is research allowed on the sample after clinical testing is complete?
No

Sample reports:

Sample Negative Report
Sample Negative Report

Sample Positive Report
Sample Positive Report

Sample VUS Report
Sample VUS Report

Technical Information

Test Procedure:

Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Human genetics. 1990 Nov 1;86(1):45-8.

View citations (1)

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Chamberlain JS, et al. Nucleic Acids Res. 1988;16(23):11141-56. doi:10.1093/nar/16.23.11141. PMID: 3205741.

Test Confirmation:

By single PCR of the missing or duplicated exon

Test Comments:

This method will capture deletions or duplications impacting the targeted hotspot exons of the gene and will not cover any mutations that are outside of the targeted hotspot region.

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Analytical Specificity >99% Precision >99% aCGH Analytical Sensitivity >99%. Analytical Specificity >98% for deletions/duplications >1.0kb in the targeted gene region

View citations (1)

https://www.ncbi.nlm.nih.gov/gtr/tests/511944/performance-characteristics/

Assay limitations:

This method will capture deletions or duplications impacting the targeted hotspot exons of the gene and will not cover any mutations that are outside of the targeted hotspot region.

View citations (1)

Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel. Kalman L, et al. J Mol Diagn. 2011;13(2):167-74. doi:10.1016/j.jmoldx.2010.11.018. PMID: 21354051.

Proficiency testing (PT):

Is proficiency testing performed for this test?
No

Description of internal test validation method: Help
We have designed (using Primer 3 plus software, IDT and UCSC Genome Browser) 17 sets of primers targeting 17 exons and taken 9 primer set that was validated [17] by den et al. 2006 for DMD gene. In total, 5 sets of multiplex PCR were carried out to amplify all … View more

VUS:

Software used to interpret novel variations
GenomeArc

Laboratory's policy on reporting novel variations
The lab explains the report to patient/ Parent during report delivery. The refering doctor is als informed in case of novel variation. The report is send either through email or in person

Recommended fields not provided:

PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Category: Not Applicable

Additional Information

Reviews:

Genereviews

PubMed Clinical Queries

Clinical resources:

Molecular resources:

View DMD variations in ClinVar

RefSeqGene

Coriell Institute for Medical Research

Practice guidelines:

Consumer resources:

MedlinePlusGenetics (GHR)

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.