COL4A1
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Retinopathy
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Anophthalmia and microphthalmia
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Cataracts
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Neuromuscular disorders comprehensive panel
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Epilepsy
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Comprehensive panel muscular dystrophy & congenital myopathy
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Polycystic kidney disease
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Kidney pathology comprehensive panel
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Leukodystrophy- White Matter Disease Early Onset
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Aneurysm, aortic dissection and connectivepathies
