| EX0524 CYSTIC FIBROSIS MUTATION DETECTION |
| Specimen: |
4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| NA |
1 week |
NA |
|
| Method: |
PCR, Sequencing |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
Cystic fibrosis (CF), also known as mucoviscidosis, is a genetic disorder that affects mostly the lungs but also the pancreas, liver, kidneys, and intestine. CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). This test detects the most common mutation, ΔF508 which is a deletion of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein. This mutation accounts for two-thirds of CF cases worldwide and 90% of cases in the United States. |
| Doctor Specialty: |
Pediatrician, Physician |
| Disease: |
Genetic Disorders |
| Components: |
|
| Courier Charges: |
0.00 |
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Genomics Clinical Information Requisition Form is mandatory. |
Reviews
There are no reviews yet.