McKusick-Kaufman syndrome is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising postaxial polydactyly, congenital cardiac disease, and hydrometrocolpos in females and genital malformations in males (most commonly hypospadias, cryptorchidism, and chordee). The syndrome is caused by variants in the MKKS gene mapped to chromosome 20p12. The c.250C>T (p.His84Tyr) variant in exon 3 of the MKKS gene is the most frequent pathogenic variant found in the Old Order Amish population. This targeted test will specifically analyze the c.250C>T variant.
1 - 2 weeks