Molecular Diagnostic DNA Testing for DMD/BMD & SMA
Genetic testing is often the best way to confirm a diagnosis in a patient with signs or symptoms suggestive of a genetic disease. Gene test also known as DNA based tests are performed on blood samples using sophisticated PCR (Polymerase Chain Reaction) techniques.
Testing using DNA-based PCR technology is now the preferred diagnostic test for one of the most common & severe Neuromuscular Disorders, namely Duchenne Muscular Dystrophy (DMD)/ Becker Muscular Dystrophy (BMD) and Spinal Muscular Atrophy (SMA). These diseases are caused by mutations i.e. changes, in different genes, hence are called genetic disorders.
- Genetic test by PCR based methods
- Specific and accurate diagnosis for DMD/BMD, & SMA
- No need of painful procedure of muscle biopsy
- No traumatic procedures in children and adults, who already have muscle weakness.
- Only 2ml blood sample is needed.
Advantages of Gene Testing;
- Accurate diagnosis and identification of the disease.
- Earlier initiation of treatment that can be offered.
- Faster and earlier initiation for support & rehabilitation.
- Prediction of risk in individuals with family history.
- Risk assessment among members of a Patient’s family.
- Early detection of the disease enables
- timely decisions like family planning.
Duchenne Muscular Dystrophy (DMD) & its milder form, Becker Muscular Dystrophy (BMD): DMD is one of the most frequent hereditary diseases in humans. About 1 in 3500 male children, independent of their ethnic origin, are born with this disease, which is caused by mutation or damage of the Dystrophin gene located on the X chromosome.
The test offered scans 32 exons for deletion mutations. Through this test 90% of deletions are picked up.
Spinal Muscular Atrophy (SMA): SMA is one of the most common lethal autosomal recessive disorders, with the childhood onset form between 1 in 6000 & 1 in 10,000 live births. There are three types of SMA showing variation in severity of symptoms.
Molecular Tests offered:
| Disorder | Gene | Exons | Method |
|---|---|---|---|
| DMD/BMD | Dystrophin (Xp21) | 32 exons checked for Deletions | Multiplex PCR |
| SMA | SMN | Exons 7 & 8 of SMN1 gene checked for Deletions. |
PCR-RFLP |
| NAIP | Exon 5 & 13 checked for Deletions. |
Multiplex PCR |
Sample required 2ml of whole blood in EDTA tube.
Test done from Monday to Friday (10.30am to 4.30 pm) at :
INSTITUTE for ADVANCED TRAINING & RESEARCHin INTERDISCIPLINARY SCIENCES
(Therapeutic Drug Monitoring Laboratory)
Plot 194, Scheme No. 6, Road No. 15
Sion-Koliwada, Sion (East), Mumbai 400022
Phone : +91 22 24078300 / 24072184 / 24072979
FAX: +91 22 24078879,
Email : tdmlab1986@indiatimes.com, tdmlab@vsnl.net
For further information please contact:
- Dr. R. S. Dastur - Mobile No. +919820304478.
Email - rdastur@hotmail.com - Dr. P. S. Gaitonde – Mobile No. +919820308634.
Email - psgaitonde@hotmail.com