Muscle biopsy vs Gene sequencing

Muscle biopsy is almost 3-4 decades old pathological test procedure where a small piece of muscle surgically taken from the thigh of a patient is subjected to a "histopathological" procedure by mixing with solvents separate for each type of 6-8 (can be corrected by the expert) muscle dystrophy types ONLY. With the advent of genetic sequencing, doctors have identified around 20-types of mutations which could be responsible for various phenotype manifestation on the patient. As the science progresses, more and more mutations are cropping up which could manifest into different types of physical conditions. Now with the availability of next generation sequencing both the time taken and cost of sequencing has fallen 10-15 times as it used to be 6-7 years ago.

I may never be able to say: "whether biopsy is superior or sequencing" it is an expert's call.

I can certainly say (still may be at flaw).... biopsy has its limitations of NOT able to rule out all the newly found mutations. It is also not a sensitive tool of diagnosis. Genetic sequencing also has its own share of issues. There are cases where a negative mutation doesnt rule out the patient suffering from some kind of mutation or the other. There are also cases where patients are found to have more than one mutation in different genes.

These days the sequencing agencies are offering an option called "gene panel" sequencing; meaning, they would check for a list of genes mutation at an affordable cost. Strange but true; a known patient does suffer from MD ailments; but her gene panel tests came negative. So where does the problem lie.

Bottom line:
One must undergo a gene sequencing test; this is the ONLY way he/she can hope to look for modern treatment options like "exon skipping" in the case of DMD. So... please go for it.... you may certainly avoid muscle biopsy....

[EXPERTS... PLEASE FORGIVE ME (a fighting father) FOR ALL THIS KNOWLEDGE I HAVE ACCUMULATED OVER A PERIOD OF 9-YEARS, AFTER I KILLED THE SPACE SCIENTIST IN ME]