| EX1602 Nx GEN SEQUENCING: 4H SYNDROME |
| 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: |
The 4H syndrome is a genetic disorder that displays an autosomal recessive inheritance pattern. It is characterized by hypomyelination, hypogonadotropic hypogonadism, and hypodontia. It is caused due to mutations in POLR3A and POLR3B genes. These patients suffer from ataxia, dysarthria, delayed dentition & normal puberty development. |
| Doctor Specialty: |
Neurologist, Dentist, Pediatrician |
| Disease: |
Multiple genetic defects |
| Components: |
POLR3A, POLR3B |
| 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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