GNAS-Related Disorders via the GNAS Gene
Use
This test is intended for individuals with clinical or suspected diagnosis of GNAS-related disorders, individuals with a family history of pseudohypoparathyroidism or Albright hereditary osteodystrophy, and those with elevated parathyroid hormone (PTH) levels. The genetic test aids in diagnosing these conditions by identifying genetic mutations associated with the GNAS gene.
Special Instructions
This test is available for individuals who meet the clinical indications. Special STAT testing is available with a surcharge, which increases the price by 25%. STAT charges will not apply if the test report is delivered after 16 days and the blood sample was submitted on time.
Limitations
The test's accuracy is highly dependent on the quality of the specimen and the patient's detailed clinical information. Turnaround times may vary due to the complexity of the genetic analysis. Genetic testing does not detect all possible variants in the GNAS gene and may not identify every genetic variation associated with related disorders.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
