NX GEN SEQ, ALKAPTONURIAÂ
Alkaptonuria is a rare disorder of autosomal recessive inheritance. In this condition urine turns black when exposed to air due to accumulation of Homogentisic acid (HGA). Later in life, patients develop Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin as well as Ochronotic osteoarthropathy. HGD gene provides instructions for making an enzyme called homogentisate oxidase, which helps in the break down of amino acids phenylalanine and tyrosine. Mutations in HGD gene lead to accumulation of homogentisic acid in the body.
Parameter(s) covered : 1
Report Frequency: Sample Daily by 9 am; Report 40 Working days
Special Instruction: Duly filled Nx Gen Sequencing (NGS) Test Requisition Form (Form 40) is mandatory.
Price : ₹ 20000.00
Parameters
- Nx Gen Seq Alkaptonuria