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

E

Ectodermal dysplasia 1, hypohidrotic, X-linked EDA
Del Dup
NGS
Ectodermal dysplasia NGS panel (10 genes) EDA, EDAR, EDARADD, GJB6, HOXC13, KDF1, KREMEN1, KRT74, KRT85, MSX1
NGS
Del Dup
Ectopia lentis NGS panel (2 genes) ADAMTSL4, FBN1
Del Dup
NGS
Ectopia lentis, isolated, autosomal dominant FBN1
Del Dup
NGS
Ectopia lentis, isolated, autosomal recessive ADAMTSL4
Del Dup
NGS
Ehlers-Danlos syndrome core NGS panel (3 genes) COL3A1, COL5A1, COL5A2
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant (9 genes) C1R, C1S, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FLNA
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive (20 genes) ADAMTS2, ATP7A, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, ZNF469
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive (12 genes) ADAMTS2, ATP7A, B3GALT6
Del Dup
NGS

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