Genetic testing of all types of muscular dystrophy can be done with us. We may arrange to collect blood samples at your door-step, wherever possible. Please call us at 0452-4369494 or write to firstname.lastname@example.org for an appointment. Please learn that the Genetic testing is the most efficient and simplest method of diagnosing muscular dystrophy that provides a confirmed result.
DMD/BMD: Both MLPA (Multiplex Ligation-Dependant Probe Amplification) based deletion/duplication analysis and NGS based gene testing covering the types of mutations. By this we ensure that most of the mutation types commonly know to casue DMD/BMD are tested.
Spinal Muscular Atrophy: SMN1 gene and 16 other genes are implicated in Spinal Muscular Atrophy. MLPA and NGS based sequencing for SMN gene analysis can be performed. The entire SMA panel for 16 other genes can also be tested on request. Specific combinations of SMN1+SMA panel and SMN1+SMN2 can also be done on request.
Congenital and Distal Myopathies: Congenital myopathy panel covering most of the congenital myopathy genes can be performed.
LGMD: All types of Limb-Girdle Muscular Dystrophies can be tested. (C3-Dystroglycanopathy, 2B-Dysferlinopathy, 2J-Titinopathy, 2R-Desminopathy, C9-Dystroglycanopathy-muscle, eye, brain disorder), 2E-Beta Sarcoglycanopathy, 2F-Delta Sarcoglycanopathy, 2Q, C4, 2H, C1, 2L, 2C-Gama Sarcoglycanopathy, C2, 2A-Calpainopathy, 2G, 2D (alpha Sarcoglycanopathy and C5
Other types of muscular dystrophies: Using the NGS based muscular dystrophy panel, 48 genes which are known to cause different types of muscular dystrophies can be tested.