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PNL011

Anophthalmia, microphthalmia isolated/syndromic (90 Genes)

This panel is designed to identify genetic causes of anophthalmia (complete absence of one or both eyes) and microphthalmia (abnormally small eyes), including both isolated ocular forms and syndromic forms associated with extra-ocular abnormalities.

Rare Disease
Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 2-3 weeks
Price:
Genes: 90 genes
Details
PNL145

Immunodeficiency, primary (313 Genes)

Rare Disease
Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT: 3 weeks
Price:
Genes: 313 genes
Details