Muscle Atrophy

Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy.

Distal spinal muscular atrophy-2 is an autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

Kennedy disease is a disorder of specialized nerve cells that control muscle movement (motor neurons). It mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Blood Sample
Alternative:

SMARD1 is caused by homozygous or compound heterozygous mutation in the IGHMBP2 gene.

Test Details
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Description:
Multiplex ligation-dependent probe amplification
Delivery Time:
2 weeks
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:

Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMA is the second most common autosomal recessive disease in Caucasians after cystic fibrosis.

Test Details
Description:
Copy number detection of the SMN1 gene
Delivery Time:
20 days
Sample:
2-6 ml venous blood
Alternative:
Description:
Copy number detection of the SMN2 gene
Delivery Time:
20 days
Sample:
2-6 ml venous blood
Alternative: