| Laboratory | Exult Diagnostics, Dr. Lal PathLabs, Metropolis Labs |
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Price range: ₹ 20000 through ₹ 24500
| EX1627 Nx GEN SEQUENCING: MICROPHTHALMIA / ANOPHTHALMIA / COLOBOMA SPECTRUM | |||||||
| 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: | Microphthalmia, Anophthalmia, and Coloboma comprise the MAC spectrum of ocular malformations. These may be unilateral or bilateral; when bilateral they may occur in any combination. Mutations in several different genes on different chromosomes are associated with the MAC spectrum. This test is useful for the genetic determination of this disorder. | ||||||
| Doctor Specialty: | Ophthalmologist | ||||||
| Disease: | Defects in Eye | ||||||
| Components: | ABCB6, ALDH1A3, BCOR, BMP4, CHD7, ERCC1, ERCC2, ERCC5, ERCC6, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GRIP1, HCCS, HESX1, HMGB3, HMX1, MAB21L2, MFRP, NAA10, NDP, OCRL, OTX2, PAX2, PAX6, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, SALL2, SALL4, SHH, SIX3, SIX6, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, VAX1, VSX2 | ||||||
| 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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