Spinal muscular atrophy. CNVs in the SMN1 and SMN2 genes by MLPA [2 genes]

Spinal muscular atrophy (SMA) is a motor neuron (motor cell) disorder group. These disorders are transmitted from parents to children (hereditary) and can appear at any stage of life. The disorder leads to muscle weakness and atrophy.

Causes: SMA is a group of diseases of the motor nerves (or neurons). The disease is caused by a lack of protein (SMN) due to defective genes.

Most of the time, a person has to inherit one copy of the defective gene from both parents to be affected. The most severe form is SMA type I, also called Werdnig-Hoffman disease. Babies with SMA type II have less severe symptoms early in the breastfeeding period, but they weaken over time. SMA type III is a less severe form of the disease.
In rare cases, SMA begins in adulthood. This is the mildest form of the disease.

A family history of SMA in an immediate family member (such as a brother or sister) is a risk factor for all types of this disorder.

Offers early diagnosis, prognosis and treatment

It is the standard diagnosis of SMA.

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Spinal muscular atrophy. CNVs in the SMN1 and SMN2 genes by MLPA

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Technique: MLPA

Turnaround time (TAT): 20 days

Ref. S-201906211

Spinal muscular atrophy. CNVs in the SMN1 and SMN2 genes by MLPA: View panel
  • SMN1
  • SMN2

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Multifocal motor neuropathy / SMN1-negative spinal muscular atrophy [38 genes]

Charcot-Marie-Tooth disease [77 genes]

Hereditary neuropathies [150 genes]

References

  • Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh
  • V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R. Genetic heterogeneity of motor neuropathies. Neurology. 2017 Mar 28;88(13):1226-1234.
  • DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD,
  • Batish SD, Lupski JR, Higgins JJ. The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Mol Genet Genomic Med. 2014 Nov;2(6):522-9.
  • Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. Pract Neurol. 2015 Jun;15(3):187-98.
  • Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci. 2003 Sep;4(9):714-26.
  • Timmerman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success. Genes (Basel). 2014 Jan 22;5(1):13-32.