Combined Pituitary Hormone Deficiency (CPHD) Panel
Use
This test is designed for individuals who exhibit relevant clinical features or have a clinical or suspected diagnosis of Combined Pituitary Hormone Deficiency (CPHD). It is also suitable for patients with a growth hormone deficiency and a deficiency in at least one other pituitary hormone.
Special Instructions
The test can be processed using either Exome or Genome platforms with NGS and CNV analysis. Specimens can include Blood, DNA, Buccal, Saliva, or Tissue, depending on the chosen platform.
Limitations
This panel analyzes a limited set of 9 genes known to be associated with CPHD. It doesn't encompass other genetic conditions or pituitary hormone deficiencies outside of this scope. False negatives are possible if mutations are outside interrogated regions or CNVs are not detected.
New York Approved
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