Patent ID: 11905560
Assignee: AVELLINO LAB USA, INC.
Field: Measurement (Instruments)
Classification: CPC C  G | IPC C  G

Claim 0:
1. A method for detecting corneal dystrophy (CD) comprising:
(A-1) amplifying one or two DNA regions of interest from a biological sample from a subject using a reaction mixture comprising at least a first amplification primer pair to produce one or two amplified DNA regions of interest;
(B-1) hybridizing a first labeled TGFBI G623D mutant detection probe comprising the nucleotide sequence of SEQ ID NO: 36 and a second labeled TGFBI M502V mutant detection probe comprising the nucleotide sequence of SEQ ID NO: 30 to a first TGFBI gene sequence comprising a region encoding amino acid position 623 in the one or two amplified DNA regions of interest and a second TGFBI gene sequence comprising a region encoding amino acid position 502 in the one or two amplified DNA regions of interest, respectively;
and
(C) detecting CD if the at least G623D and M502V mutations in the one or two amplified DNA regions of interest are detected.