ASAH1
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Familial Pulmonary Fibrosis, including Cystic Fibrosis
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Spinal muscular atrophy
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Neuromuscular disorders comprehensive panel
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Epilepsy
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Periodic fever syndromes
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Cytopenias and inborn errors of immunity
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Autoimmune and autoinflammatory syndromes
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Familial pulmonary fibrosis (including cystic fibrosis)
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Leukodystrophy- White Matter Disease Early Onset