NGS capture panel

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Showing 97–108 of 161 results

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Sturge-Weber syndrome. Detection of the p.Arg183Gln mutation in the GNAQ gene. NexteGeneDx. [1 gene]

Ref.: S-202212860

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Susceptibility to fungal infections [16 genes]

Ref.: S-202110269

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Susceptibility to invasive bacterial infections [8 genes]

Ref.: S-202110270

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Susceptibility to viral infections [38 genes]

Ref.: S-202110267

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Systemic lupus erythematosus syndrome (SLE-like) [8 genes]

Ref.: S-202008268

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T-B- severe combined immunodeficiency (SCID) [8 genes]

Ref.: S-202008260

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T-B+ severe combined immunodeficiency (SCID) [12 genes]

Ref.: S-202110434

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Tubulointerstitial and metabolic diseases [283 genes]

Ref.: S-202110419

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Congenital genetic muscle disorders (GMD) with structural abnormalities [78 genes]

Ref.: S-202008553

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Childhood- and adult-onset structural GMDs [64 genes]

Ref.: S-202008554

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Limb-girdle muscular dystrophies [43 genes]

Ref.: S-202008552