CAH (21-Hydroxylase Deficiency) Common Mutations
| Abbrev Code: | XMISC | ||
| Order Code: | LAB4909 | Order Name: | Laboratory Miscellaneous Order |
| Synonyms: | CYP21A2 Common Mutation Panel | ||
| Methodology: | Polymerase chain reaction, Electrophoresis | ||
| CPT Codes: | 81402 x1 | ||
| Turnaround Time: | Specimens are sent to reference laboratory Mon-Fri; results are reported within 7-14 days. | ||
| Special Instructions: | A signed informed consent in the patient's medical record is required; the consent form should not be sent to the laboratory. See Associated Links. | ||
| Compliance: | This test was developed and its performance characteristics determined by Quest Diagnostics Nichols Institute, San Juan Capistrano. Performance characteristics refer to the analytical performance of this test. |
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| Associated Links: | |||
Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 5 mL |
| Minimum\Peds Volume: | 3 mL |
| Container: | Purple (EDTA) Alternate Containers: Trace Element, EDTA (DE), Yellow (ACD, Solution A) tube available from laboratory, Yellow (ACD, Solution B) tube available from laboratory |
| Causes for Rejection: | Heparinized or frozen specimens. |
Processing and Shipping
| Specimen Processing: | Whole blood. Do not process. |
| Shipping Instructions: | Ship same day at room temperature. |
| Stability: | 8 days at room temperature or refrigerated |
| Test Performed at or Referral Lab | Lab Sendouts (Quest Diagnostics) |
| Referral Lab number: | 14755 |
Interpretive
| Reference Range: | By report. |
| Use: | Order to confirm the diagnosis of CAH following suggestive biochemical testing. |
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