Nephronophthisis Type 1
| TEST CODE | MG04200 |
| TEST NAME | Nephronophthisis Type 1 |
| RELATED GENE | NPHP1 |
| SYNONYMOUS | NPHP1 |
| OMIM | 256100 |
| HEREDITY | Autosomal Recessive |
| CLINICAL AREA | Nefronofitizis Tip 1 otozomal resesif olarak kalıtılan bir hastalıktır. NPHP1 genindeki mutasyonlar hastalıkla ilişkilendirilmiştir. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Heparinized Blood / Bone Marrow |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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