Human OFD1 ELISA Kit (HUFI07419)

The OFD1 protein (Oral-Facial-Digital syndrome 1) is an X-linked centrosomal and basal body component required for primary cilium assembly. Pathogenic variants in OFD1 underlie oral-facial-digital syndrome type 1 and contribute to broader ciliopathies such as Joubert syndrome, short-rib polydactyly, and nephronophthisis-related cystic kidney disease, making quantitative OFD1 measurement relevant to centrosome biology, Hedgehog signalling studies, and ciliopathy biomarker research.

This Assay Genie ELISA quantifies endogenous human OFD1 in serum or plasma using a paired antibody approach on a pre-coated 96-well microplate. Each kit supplies reagents for a full plate with a 100 µL sample volume per well, and produces a colorimetric signal readable on standard 450 nm plate readers. Reconstituted standard is serially diluted to generate a calibration curve, and bound analyte is detected with an HRP-conjugated antibody plus TMB substrate.

Unopened kit components should be stored refrigerated and protected from light; reconstituted standard and diluted samples should be used promptly or aliquoted and frozen to limit freeze-thaw cycles.