| EX0683 FISH: MICRODELETION DETECTION FOR WILLIAMS SYNDROME |
| Specimen: |
5 mL (3 mL min.) Whole blood from 1 Green Top (Sodium Heparin) tube. Ship at 18-22°C. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 48 hrs |
NA |
NA |
|
| Method: |
FISH |
| Comment: |
Samples received on holidays will be reported in the next schedule / next working day. |
| Report: |
Contact us to know the TAT. |
| Usage: |
Williams syndrome (WS) is a multisystem disorder caused by a microdeletion on chromosome 7 (7q11.23) resulting in the loss of 26-28 genes. Two genes namely LIMK1 & STX1A have been implicated in the behavioral phenotype of this disease. WS is characterized by cardiovascular disease, distinctive facies, connective tissue & endocrine abnormalities, unique personality traits & hypotonia. |
| Doctor Specialty: |
Pediatrician |
| Disease: |
Genetic Disorders |
| Components: |
|
| Courier Charges: |
0.00 |
| Home Collection: |
Available (*T&C Apply) |
| Department: |
CYTOGENETICS |
| Pre Test Information: |
A duly filled Chromosome & FISH analysis Requisition Form is mandatory. |
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