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Laboratory

Exult Diagnostics, Dr. Lal PathLabs, Metropolis Labs

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Nx GEN SEQUENCING: DYSTONIA

 20000

EX1620      Nx GEN SEQUENCING: DYSTONIA
Specimen: Submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE.
Stability:
Room Refrigerated Frozen
6 hrs 72 hrs NA
Method: NGS, Sanger sequencing
Comment:
Report: Contact us to know the TAT.
Usage: Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions of the antagonist’s muscles causing abnormal often repetitive movements and postures. Dystonia is often initiated or worsened by voluntary action. It can range from focal minor contractions affecting an individual muscle group to severe disabling involvement of multiple muscle groups. It can be aggravated by stress & fatigue and attenuated by relaxation. The etiology primarily reflects genetic abnormalities. Multiple genes have been associated with inherited dystonia. The three forms of dystonia are Isolated, Combined & Complex dystonia.
Doctor Specialty: Neurologist
Disease: Genetic Disorders-Movement disorder
Components: ADCY5, ANO3, ARSA, ATM, ATP1A3, ATP7B, CACNA1B, CIZ1, COL6A3, DRD2, GCDH, GCH1, GNAL, HPCA, KCNMA1, KCTD17, PANK2, PARK2, PLA2G6, PNKD, PRKRA, PRRT2, RELN, SGCE, SLC2A1, SLC6A3, SPR, TH, THAP1, TIMM8A, TOR1A, TUBB4A
Courier Charges:
Home Collection: Available (*T&C Apply)
Department: MOLECULAR DIAGNOSTICS
Pre Test Information: A duly filled Whole Exome Sequencing Consent Form is mandatory.