| Laboratory | Exult Diagnostics, Dr. Lal PathLabs |
|---|
₹ 20000
| EX1609 Nx GEN SEQUENCING: AMYOTROPHIC LATERAL SCLEROSIS | |||||||
| Specimen: | Submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. | ||||||
| Stability: |
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| Method: | NGS, Sanger sequencing | ||||||
| Comment: | |||||||
| Report: | Contact us to know the TAT. | ||||||
| Usage: | Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease and the most devastating of the neurodegenerative disorders which lead to the death of upper & lower motor neurons. The earliest sign of the disease is asymmetric weakness followed by progressive wasting & atrophy of muscles and fasciculations. Though ALS is a sporadic illness, 10% of cases are inherited as an autosomal dominant trait called Familial ALS. Mutations in the C9orf72 gene account for 40-50% of familial ALS. SOD1 gene mutations cause 20% of familial ALS whereas TDP43 & FUS/TLS gene mutations each account for about 5% of such cases. Mutations in other genes like Optineurin, TBK1 & Profilin-1 each cause about 1% of cases. It is estimated that 60% of individuals with familial ALS have an identifiable genetic mutation. | ||||||
| Doctor Specialty: | Neurologist | ||||||
| Disease: | Genetic Disorders-Progressive Motor Neuron Disease | ||||||
| Components: | ALS2, ANG, ATXN2, C9orf72, CHCHD10, CHMP2B, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SMN1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TRPM7, TUBA4A, UBQLN2, VAPB, VCP | ||||||
| Courier Charges: | |||||||
| Home Collection: | Available (*T&C Apply) | ||||||
| Department: | MOLECULAR DIAGNOSTICS | ||||||
| Pre Test Information: | A duly filled Whole Exome Sequencing Consent Form is mandatory. | ||||||
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