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Ophthalmology

Genetic Test
Samples Required
EDTA

Microphthalmia Anophthalmia Coloboma MAC Spectrum (panel)

SKU MBG-A1735
Category
Call to order - 01707 707 560.

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Description

Colobomatous microphthalmia is a defect of ocular development characterized by monolateral or bilateral microphthalmia, associated with ocular coloboma.

External Information

Click here for more information about the Microphthalmia Anophthalmia Coloboma MAC Spectrum (panel) genetic test.

Additional information

Samples

EDTA
Method of testing

NGS
Turnaround Time (TAT) 30-40 days
Number of Genes

47
Genes / Chromosomes / SNPs

ABCB6, BCOR, BMP4, CHD7, CRYBA4, ERCC1, ERCC2, ERCC5, ERCC6, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GRIP1, HCCS, HESX1, HMX1, IKBKG, MFRP, NAA10, NDP, NHS, OCRL, OTX2, PAX2, PAX6, PORCN, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RAX, RBP4, SHH, SIX3, SIX6, SMOC1, SOX2, STRA6, TFAP2A, VAX1, VSX2
External Information Click here for more information about the Microphthalmia Anophthalmia Coloboma MAC Spectrum (panel) genetic test.

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