| Laboratory | Exult Diagnostics, Dr. Lal PathLabs, Metropolis Labs |
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₹ 20000
| EX1614 Nx GEN SEQUENCING: CHARCOT-MARIE-TOOTH DISEASE & SENSORY NEUROPATHIES | |||||||
| 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: | Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy. It refers to a group of disorders characterized by chronic motor and sensory polyneuropathy, also known as hereditary motor and sensory neuropathy (HMSN). Individuals with CMT manifest symmetric, slowly progressive distal motor neuropathy of the arms and legs usually beginning in the first to the third decade and resulting in weakness and atrophy of the muscles in the feet and/or hands. The affected individual typically has distal muscle weakness and atrophy, weak ankle dorsiflexion, depressed tendon reflexes, and high-arched feet. Sensorineural hearing loss can occur. Dejerine-Sottas syndrome (DSS) is a demyelinating neuropathy of infancy and childhood & is a form of CMT. CMT can be caused by mutations in many different genes that code for proteins that are involved in the function of peripheral nerves in the feet, legs, and hands. These mutations affect the function of the proteins in ways that are not fully understood; however, they likely impair axons that transmit nerve impulses or affect the specialized cells that produce myelin. | ||||||
| Doctor Specialty: | Neurologist | ||||||
| Disease: | Genetic Disorders-Hereditary Motor & Sensory Neuropathy | ||||||
| Components: | AARS, ABHD12, AIFM1, ARHGEF10, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BSCL2, CCT5, CNTNAP1, COA7, COX6A1, CTDP1, DCTN1, DCTN2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HOXD1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, PTRH2, RAB7A, SBF1, SBF2, SCN11A, SCO2, SCN9A, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SOX1, SPG11, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, VCP, WARS, WNK1, YARS | ||||||
| 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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