Obstetrics / Gynecology /PND
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Panel of spermatogenesis/spermiogenesis alteration (sequence analysis of AURKC and DPY19L2 genes and detection of R283Q mutation of SPATA16 gene)
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Pena-Shokeir syndrome type 1 (sequence analysis of DOK7 gene)
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Pena-Shokeir syndrome type 2 (sequence analysis of ERCC6 gene)
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Perrault syndrome 1 (PRLTS1, sequence analysis of HSD17B4 gene)
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Perrault syndrome 2 (PRLTS2, sequence analysis of HARS2 gene)
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Perrault syndrome 3 (PRLTS3, sequence analysis of CLPP gene)
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Perrault syndrome 4 (PRLTS4, sequence analysis of LARS2 gene)
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Perrault syndrome 5 (sequence analysis of TWNK/C10orf2 gene)
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Persistent Mullerian duct syndrome type I (sequence analysis of AMH gene)
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Persistent Mullerian duct syndrome type II (sequence analysis of AMHR2 gene)
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Pfeiffer syndrome (deletion/duplication analysis of FGFR1 gene)
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Pfeiffer syndrome (deletion/duplication analysis of FGFR2 gene)
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Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes)
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Pfeiffer syndrome (sequence analysis of FGFR1 gene)
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Phelan-McDermid syndrome (deletion/duplication analysis on SHANK3 gene)
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Prader-Willi/Angelman Syndrome (methylation and deletion/duplication analysis by MS-MLPA)
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Premature ovarian failure (FMR1 gene, msTP-PCR)
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Premature ovarian failure (NGS panel of 48 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
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