Neurology / Neuropediatrics
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Parkinson disease type 8 (PARK8, sequence analysis of exon 41 of LRRK2 gene)
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Parkinsonism-Dystonia, infantile (deletion/duplication analysis on SLC6A3 gene)
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Parkinsonism-Dystonia, infantile (sequence analysis of SLC6A3 gene)
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Paroxysmal nonkinesigenic dyskinesia (sequence analysis of MR1 gene)
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Paroxysmal nonkinesigenic dyskinesia 1 (deletion/duplication analysis on PNKD gene)
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Paroxysmal nonkinesigenic dyskinesia 1 (sequence analysis of PNKD gene)
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Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (deletion/duplication analysis of KCNMA1 gene)
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Pelizaeus-Merzbacher Disease (deletion/duplicaction analysis on PLP1 gene)
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Pelizaeus-Merzbacher disease (sequence analysis of PLP1 gene)
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Pena-Shokeir syndrome type 2 (sequence analysis of ERCC6 gene)
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Periventricular heterotopia (deletion/duplication analysis of FLNA gene)
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Periventricular heterotopia with microcephaly (deletion/duplication analysis on ARFGEF2 gene)
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Periventricular heterotopia with microcephaly (sequence analysis of ARFGEF2 gene)
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Periventricular Heterotopia, X-linked (sequence analysis of FLNA gene)
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Permanent neonatal diabetes mellitus (sequence analysis of KCNJ11 gene)
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Peroxisome biogenesis disorder 10A (PBD10A, Zellweger) (deletionduplication analysis of PEX3 gene)
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Peroxisome biogenesis disorder 14B (sequence analysis of PEX11B gene)
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Peroxisome biogenesis disorder 2A (Zellweger) | Peroxisome biogenesis disorder 2B | Rhizomelic chondrodysplasia punctata, type 5 (deletion/duplication analysis of PEX5 gene)
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Peroxisome biogenesis disorder 7A (PBD7A, Zellweger) (deletion/duplication analysis on PEX26 gene)
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Perrault syndrome 1 (PRLTS1, sequence analysis of HSD17B4 gene)
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