Next Generation Sequencing | Deletion / Duplication | NGS & Del Dup Comprehensive |
---|---|---|
Price: $900
|
Price: $750
|
Price: $1550
|
CPT: 81405
|
CPT: 81404
|
CPT: 81405
81404
|
McKusick-Kaufman syndrome is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising postaxial polydactyly (PAP), congenital cardiac disease (CHD), and hydrometrocolpos (HMC) in females and genital malformations in males (most commonly hypospadias, cryptorchidism, and chordee). The syndrome is caused by mutations in the MKKS gene mapped to chromosome 20p12.
Type E
4 weeks or less