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Primary aldosteronism, seizures, and neurologic abnormalities (sequence analysis of CACNA1D gene)
+ info
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Primary ciliary dyskinesia (NGS panel of 34 genes)
+ info
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Primary ciliary dyskinesia (p.Lys268del mutation on RSPH9 gene)
+ info
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Primary ciliary dyskinesia (sequence analysis of HYDIN gene)
+ info
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Primary ciliary dyskinesia 12 (sequence analysis of RSPH9 gene)
+ info
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Primary ciliary dyskinesia 3 (CILD3, deletion/duplication analysis on DNAH5 gene)
+ info
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Primary ciliary dyskinesia 3 (CILD3, sequence analysis of DNAH5 gene)
+ info
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Primary hyperoxaluria (NGS panel of 3 genes)
+ info
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Primary hyperoxaluria type 2 (sequence analysis of GRHPR gene)
+ info
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Primary hyperoxaluria type I (sequence analysis of AGXT gene)
+ info
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Primary Hypertrophic Osteoarthropathy (NGS panel of 22 genes)
+ info
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Primary immunodeficiency (sequence analysis of C3 gene)
+ info
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Primary Immunodeficiency (WES based NGS panel for 332 genes, including CNV analysis)
+ info
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Primary immunodeficiency due to IRAK4 deficiency (sequence analysis of IRAK4 gene)
+ info
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Primary lateral sclerosis, juvenile (sequence analysis of ALS2 gene)
+ info
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Primary microcephaly type 5, AR (sequence analysis of ASPM gene)
+ info
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Primary open angle glaucoma (sequence analysis of MYOC gene)
+ info
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Primary pigmented nodular adrenocortical disease type 2 (sequence analysis of PDE11A gene)
+ info
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Primary pigmented nodular adrenocortical disease type 3 (sequence analysis of PDE8B gene)
+ info
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Primary pulmonary hypertension (sequence analysis of BMPR2 gene)
+ info
