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Radioulnar synostosis with amegakaryocytic thrombocytopenia (sequence analysis of HOXA11 gene)
+ info
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Rapp-Hodgkin syndrome (sequence analysis of TP63 gene)
+ info
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RBC Enzymopathies (NGS panel for 14 genes)
+ info
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Reanalysis and interpretation of Disease Exome (realignment and reanalysis of variants)
+ info
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Reanalysis and interpretation of NGS panels (realignment and reanalysis of variants)
+ info
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Reanalysis and interpretation of WES (realignment and reanalysis of variants)
+ info
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Recessive X-linked ichthyosis (sequence analysis of STS gene)
+ info
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Recessives ataxias (deletion/duplication analysis on SETX, APTX and FXN genes)
+ info
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Recurrent hydatidiform mole (WES based NGS panel of 4 genes, including CNV analysis)
+ info
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Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (sequence analysis of TANGO2 gene)
+ info
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Refsum disease (sequence analysis of PEX7 gene)
+ info
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Refsum disease (sequence analysis of PHYH gene)
+ info
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Renal amyloidosis due to apolipoproteins, all variants - Apolipoprotein A-II deficiency (sequence analysis of APOA2 gene)
+ info
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Renal aplasia 1 (sequence analysis of ITGA8 gene)
+ info
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Renal aplasia 2 (sequence analysis of FGF20 gene)
+ info
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Renal aplasia type 3 (sequence analysis of GREB1L gene)
+ info
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Renal calcifications (nephrocalcinosis) (NGS panel of 37 genes)
+ info
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Renal cell carcinoma, papillary, 1, familial and somatic (sequence analysis of MET gene)
+ info
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Renal cysts and diabetes syndrome (deletion/duplication analysis of HNF1B genes)
+ info
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Renal Glucosuria (deletion/duplication analysis of gene SLC5A2)
+ info
