About Duchenne and Becker muscular dystrophy
Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle. It is a multi-systemic condition, affecting many parts of the body, which results in deterioration of the skeletal, heart, and lung muscles.
Duchenne is caused by a change in the dystrophin gene. Without dystrophin, muscles cannot function or repair themselves properly. Becker muscular dystrophy occurs when dystrophin is manufactured, but not in the normal form or amount, and may be associated with later onset of symptoms or a prolonged progression. Since the dystrophin gene is found on the X-chromosome, Duchenne and Becker primarily affect males. However, women and girls can manifest varying ranges of physical symptoms of Duchenne and may be referred to as manifesting carriers or females with dystrophinopathy.
To learn more about Duchenne and Becker muscular dystrophy, please click here. The Decode Duchenne team, along with other PPMD staff, are here to support families and providers. Please reach out at 888-520-8675 or email decode@parentprojectmd.org.
Incidence
Duchenne/Becker muscular dystrophy (Duchenne) is the most common muscular dystrophy in children. About one out of every 5,000 boys has Duchenne, and about 20,000 babies worldwide are born with it each year. Duchenne mostly affects boys and reaches across all races and cultures. Parent Project Muscular Dystrophy (PPMD) estimates that there are about 15,000 young men, as well as some young women, living with Duchenne today in the United States.
Inheritance
Duchenne is a X-linked disorder. You may have someone in your family who has or had Duchenne or Becker. Duchenne is passed down from a parent to a child, or it may occur due to a new, or spontaneous, genetic change or variant. In fact, one out of every three cases of Duchenne, and one out of ten cases of Becker, are caused by a spontaneous change in the DMD gene, with no family history.
Program eligibility
The Decode Duchenne program is for individuals with:
A known or suspected diagnosis of Duchenne or Becker muscular dystrophy* or an elevated CK level.
If you suspect Duchenne or Becker muscular dystrophy due to a positive family history, please call 888-520-8675 or email decode@parentprojectmd.org to ensure appropriate testing is ordered. Approval is required for carrier or asymptomatic familial variant testing.
* Decode Duchenne may not be able to provide payment for incorrectly ordered genetic tests.
About the test
i. First-line testing includes sequencing and deletion/duplication analysis of the DMD gene. Familial variant testing methods depend on the variant identified.
ii. Auto-reflex to panel testing for negative or non-diagnostic NGS testing in a symptomatic person. Please review the genes included in the panel in the "genes tested" accordion below.
Genes tested
ACTA1, AGRN, ALG14, ALG2, ANO5, ASAH1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1,CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, DAG1, DDC, DES, DMD, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GFPT1, GMPPB, GNE, HNRNPA2B1, HNRNPDL, IGHMBP2, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRP4, MATR3, MEGF10, MTM1, MUSK, MYF6, MYH2, MYH7, MYL2, MYOT, MYPN, NEB, PHKA1, PLEC, PLEKHG5, PMP22, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PYGM, RAPSN, RYR1, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SMCHD1, SNAP25, SQSTM1, STAC3, STIM1, SUN1, SUN2, SYNE1, SYNE2, TAZ, TCAP, TIA1, TMEM43, TMEM5, TNNI2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, UBA1, VCP, VMA21, VRK1
How to order
1. Placing your order
The Decode Duchenne program is for individuals with:
- A known or suspected diagnosis of Duchenne or Becker muscular dystrophy* or an elevated CK level.
- If you suspect Duchenne or Becker muscular dystrophy due to a positive family history, please call 888-520-8675 (option 1) or email decode@parentprojectmd.org to ensure appropriate testing is ordered. Decode Duchenne may be unable to provide payment for incorrectly ordered genetic tests.
- *This portal is not appropriate for carrier testing. If you are interested in carrier testing for a patient, please click here.
- To order diagnostic testing for Duchenne or Becker muscular dystrophy fill out the Decode Duchenne Requisition Form.
- Please make sure that all sections are completed, and that the patient has signed the informed consent form.
2. Collect & send specimen
Obtain a sample for testing from the patient using one of the provided Revvity Omics test kits. If you do not have a kit available in your office, please contact us here and we can have one sent out to your office.
- Ensure that the patient sample is labelled with the patient’s name and date of birth.
- Blood, saliva, or DBS samples can be accepted.
- Samples may be submitted without a collection kit by following the guidelines for specimen requirements and completing the test requisition form.
Package the patient sample, informed consent form, and test requisition form back into the test kit and utilize the included pre-paid shipping label to return the kit to Revvity Omics for processing.
- As the patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
3. Get results
Once Revvity Omics receives the sample, results are sent through Revvity Omics to the ordering physician typically within 14-21 days.
Please call the Decode Duchenne genetic counselors at 888-520-8675 with any questions regarding results.
This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location. The content on this page is provided for informational purposes only, not as medical advice. It is not intended to substitute the consultation, diagnosis, and/or treatment provided by a qualified licensed physician or other medical professionals.