| EX1607 Nx GEN SEQUENCING: ALKAPTONURIA |
| Specimen: |
Submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
72 hrs |
NA |
|
| Method: |
NGS, Sanger sequencing |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
Alkaptonuria is a rare disorder of autosomal recessive inheritance. In this condition, urine turns black when exposed to air due to the 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 breakdown of amino acids phenylalanine and tyrosine. Mutations in the HGD gene lead to the accumulation of homogentisic acid in the body. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Inherited errors of metabolism |
| Components: |
*HGD |
| Courier Charges: |
|
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Whole Exome Sequencing Consent Form is mandatory. |
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