DMD BMD-79 exons Deletion / Duplication Analysis MLPA Blood Test Cost & Procedure

Childhood X-linked neuromuscular illnesses Duchenne and Becker muscular dystrophy (DMD & BMD) are caused by a dystrophin gene deficiency. DMD and BMD may result from exon deletion in the dystrophin gene. This test finds deletions in both males and females in all 79 dystrophin gene exons. Duchenne muscular dystrophy (DMD) is a deadly muscle illness brought on by a deficiency in dystrophin, a protein that preserves the integrity of the muscle membrane. This allowed us to produce dystrophin once more.

DMD Mutations:

A shortened, dysfunctional form of the dystrophin protein is produced due to single- or multi-exon deletions that damage the open reading frame (ORF) and add an early stop codon, which causes a severe phenotype of muscle degeneration.

Procedure:

• To find deletions and duplications, a specialised "exon-centric" array will be employed. Gselectionion has improved probes targeted to the exonic regions of DMD.

Sample Requirements:

If patients cannot submit a blood sample, they might use a saliva collection kit. Saliva collection kits with assistance are available for patients who cannot give a blood sample.

Please send maternal blood along with the foetus sample. Please get in touch with our lab if there are unusual situations that require testing to be done outside of the previously mentioned times.

Mutations:

These are genetic changes brought on by environmental influences. Moreover, this may result in fatal illnesses in the body.

When should you have your test?

When the patient has taken tyrosine kinase inhibitors, and the disease still exists, it is advised.

A liquid biopsy is what?

It does not employ tissue samples and instead uses whole blood as the sample. It facilitates the detection of cancer. Using liquid biopsies is advantageous in:

• moving cancer cells

tumour DNA in motion

With a biopsy, the tissue portion is found; in a liquid biopsy, the tumour's DNA is found. Liquid biopsy is less trustworthy than standard biopsy.

Test preparation:

No specific drills are necessary.