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Laboratory

Exult Diagnostics, Dr. Lal PathLabs

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Nx GEN SEQUENCING: GLAUCOMA

 24500

EX1622      Nx GEN SEQUENCING: GLAUCOMA
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: In Glaucoma the optic nerves connecting the eyes and the brain are progressively damaged which leads to a reduction in peripheral vision and eventual blindness. Structural abnormalities that impede fluid drainage in the eye may be present at birth and usually become apparent during the first year of life are usually a part of a genetic syndrome. Primary Congenital Glaucoma appears before 5 years of age without any associated abnormalities. Mutations in several different genes on different chromosomes are associated with Glaucoma. This test is useful for the genetic determination of this disorder.
Doctor Specialty: Ophthalmologist
Disease: Glaucoma
Components: ACVR1, ASB10, BEST1, CANT1, COL18A1, CYP1B1, FOXC1, LMX1B, LOXL1, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, PITX3, SBF2, WDR36
Courier Charges:
Home Collection: Available (*T&C Apply)
Department: MOLECULAR DIAGNOSTICS
Pre Test Information: A duly filled Whole Exome Sequencing Consent Form is mandatory.