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Pontocerebellar hypoplasia, type 2E (deletion/duplication analysis of VPS53 gene)
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Porencephaly 1 (sequence analysis of COL4A1 gene)
+ info
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Porencephaly 2 (sequence analysis of COL4A2 gene)
+ info
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Poretti-Boltshauser syndrome (sequence analysis of LAMA1 gene)
+ info
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Porphyria (deletion/duplication on FECH, UROS, UROD and CPOX genes)
+ info
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Porphyria cutanea tarda (sequence analysis of UROD gene)
+ info
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Porphyria of Doss (sequence analysis of ALAD gene)
+ info
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Porphyria variegata (sequence anaçysis of PPOX gene)
+ info
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Prader-Willi syndrome (sequence analysis of NDN gene)
+ info
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Prader-Willi syndrome (sequence analysis of SNRPN gene)
+ info
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Prader-Willi/Angelman Syndrome (methylation and deletion/duplication analysis by MS-MLPA)
+ info
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Precocious puberty, central, 2 (sequence analysis of MKRN3 gene)
+ info
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Premature ovarian failure (FMR1 gene, conventional PCR)
+ info
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Premature ovarian failure (FMR1 gene, msTP-PCR)
+ info
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Premature ovarian failure (NGS panel of 47 genes)
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Premature ovarian failure panel (detection of FMR1 gene expansion by msTP-PCR and sequence analysis of GALT, INHA and AMH genes)
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Premium genetic test of carriers, man
+ info
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Premium genetic test of carriers, woman
+ info
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Prenatal screening (NTD)
+ info
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Primary adult open-angle glaucoma (sequence analysis of OPTN gene)
+ info
