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Quest Diagnostics

Pregnenolone, LC/MS

Quest Diagnostics

Sample type: Serum

Requires fasting: No

Phlebotomy required


Details

This test is key for distinguishing between different types of congenital adrenal hyperplasia (CAH), a group of genetic conditions affecting steroid hormone production. It's particularly useful for diagnosing rare CAH types and monitoring treatment effectiveness.


  • Pregnenolone

Estimated days for results: Results should be available in 2 - 5 business days after the sample is collected

Details
Pregnenolone, LC/MS - This test is key for distinguishing between different types of congenital adrenal hyperplasia (CAH), a group of genetic conditions affecting steroid hormone production. It's particularly useful for diagnosing rare CAH types and monitoring treatment effectiveness. Pregnenolone, a precursor to all steroid hormones, may show elevated levels in certain CAH types. This test is often conducted following a 17-hydroxyprogesterone test, especially when common CAH types are excluded but symptoms persist.

Who might need this test?
Doctors might order this test for individuals showing symptoms of CAH, especially when initial screenings for common types come back negative. Symptoms can vary widely, depending on the specific enzyme deficiency and its impact on hormone balance.

What type of sample is required?
0.5 mL serum collected in a red-top tube (no gel). It's crucial to freeze the sample immediately after collection to preserve its integrity until analysis.


3–5 business days


Adult                 22-237 ng/dL
Pediatric
   1-59 days           68-1303 ng/dL
   60 days-1 year      ≤219 ng/dL
   2-6 years           ≤140 ng/dL
   7-9 years           ≤156 ng/dL
   10-12 years         15-220  ng/dL
   13-17 years         12-196 ng/dL


  • Women's health
  • Hormones
  • Adrenals and stress
  • Men's health

Blood Draw Options with Fullscript
Fullscript offers several convenient phlebotomy options to complete your lab testing:

Quest Diagnostics Patient Service Centers (PSC)

  • Location: Visit a nearby Quest Diagnostics Patient Service Center.
  • Cost: $10 sample collection fee (paid during lab order checkout).
  • Scheduling: Schedule your appointment here. Appointments are recommended to reduce wait times. Walk-ins are accepted, but may experience delays. Aim to arrive 10 minutes before your appointment.
  • Collection Instructions:
    • Bring a valid ID.
    • Bring your digital or printed requisition form, available in the Labs tab of your Fullscript account.
  • Check-in: Scan the QR code from your confirmation email or follow kiosk instructions.
  • More Info: Quest Diagnostics blood draw guide

Getlabs Mobile Phlebotomy

  • Location: Sample collection at your home or office.
  • Cost: $85 sample collection fee (paid during lab order checkout).
  • Availability: Available in most locations enter your ZIP code during checkout to confirm.
  • Scheduling: Schedule your appointment here through your Fullscript account.
  • Collection Instructions:
    • Have your digital or printed requisition form and valid ID ready.
    • Your phlebotomist will contact you by phone to coordinate arrival.
  • More Info: Getlabs blood draw guide

 Specimen
  • Preferred Specimen(s): 0.5 mL serum collected in a red-top tube (no gel) 
  • Alternative: NA 
  • Minimum Volume: 0.2 mL 
  • Collection Instructions: NA 
 Storage and shipping instructions
  • Transport Container: Transport tube 
  • Transport Temperature: Frozen 
  • Specimen Stability
    • Refrigerated: 72 hours 
    • Frozen: -20° C: 14 days, -70° C: 30 days 
  • Reject Criteria
    • Gross hemolysis • Serum separator tube (SST) 

State restrictions:

Patient can't order this test if they are located in Hawaii, Puerto Rico, New Jersey, New York, or Rhode Island

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