| EX0907 HHH SYNDROME; HYPERORNITHINEMIA – HYPERAMMONEMIA – HOMOCITRULLINURIA SYNDROME |
| Specimen: |
15 mL (10 mL min.) aliquot of random urine in a sterile screw-capped container. No preservative is required. Ship refrigerated or frozen. Give brief clinical history. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
72 hrs |
4 weeks |
|
| Method: |
LC-MS/MS, GC-MS |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
HHH syndrome is a defect of Urea cycle metabolism inherited as an autosomal recessive disorder. It may be present at birth, during childhood, or even in adulthood. It is characterized by lethargy, poor feeding, vomiting, encephalopathy, and liver dysfunction. |
| Doctor Specialty: |
Pediatrician, Physician |
| Disease: |
Inborn errors of metabolism |
| Components: |
|
| Courier Charges: |
0.00 |
| Home Collection: |
Available (*T&C Apply) |
| Department: |
GENETICS |
| Pre Test Information: |
Give brief clinical history. |
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