Browse CTGT's catalogue of NGS disorders and panels by disorder name.

L

Langer mesomelic dysplasia SHOX
Del Dup
NGS
Larsen syndrome, autosomal dominant FLNB
Del Dup
NGS
Larsen syndrome, autosomal recessive CHST3
Del Dup
NGS
Lateral meningocele syndrome NOTCH3
Del Dup
NGS
Leber congenital amaurosis and related disorders NGS panel (32 genes) AIPL1, ALMS1, CABP4, CEP290, CLUAP1, CNGA3, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH12, RDH5, ROM1, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1
Del Dup
NGS
Leri-Weill dyschondrosteosis SHOX
Del Dup
NGS
Lethal congenital contracture syndrome and related disorders NGS Panel (22 genes) ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ERBB3, GLDN, GLE1, LGI4, LMNA
NGS
Del Dup

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