Neurology / Neuropediatrics
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Porencephaly 2 (sequence analysis of COL4A2 gene)
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Poretti-Boltshauser syndrome (sequence analysis of LAMA1 gene)
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Prader-Willi syndrome (sequence analysis of NDN gene)
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Prader-Willi syndrome (sequence analysis of SNRPN gene)
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Prader-Willi/Angelman Syndrome (methylation and deletion/duplication analysis by MS-MLPA)
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Primary aldosteronism, seizures, and neurologic abnormalities (sequence analysis of CACNA1D gene)
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Primary lateral sclerosis, juvenile (sequence analysis of ALS2 gene)
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Primary microcephaly type 5, AR (sequence analysis of ASPM gene)
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Progressive external ophthalmoplegia (deletion/duplication in the POLG, POLG2, SLC25A4 and TWNK genes)
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Progressive external ophthalmoplegia (sequence analysis of POLG gene)
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Progressive external ophthalmoplegia - scoliosis (sequence analysis of ROBO3 gene)
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Progressive external ophthalmoplegia 4, AD (sequence analysis of POLG2 gene)
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Progressive external ophthalmoplegia with mitochondrial deletions type 5 (sequence analysis of RRM2B gene)
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Progressive external ophthalmoplegia with mitochondrial DNA deletions type 2 (sequence analysis of SLC25A4 gene)
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Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 (sequence analysis of TWNK/ C10orf2 gene)
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Progressive spastic type 52 (sequence analysis of AP4S1 gene)
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Propionic Acidemia (NGS panel of 5 genes)
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Propionic acidemia (sequence analysis of PCCB gene)
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Prosaposin deficiency | Gaucher disease, atypical | Krabbe disease, atypical | Metachromatic leukodystrophy (deletion/duplication analysis of PSAP gene)
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Prosaposin deficiency | Gaucher disease, atypical | Krabbe disease, atypical | Metachromatic leukodystrophy (sequence analysis of PSAP gene)
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