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Test Code (รหัสการทดสอบ):
090-31-4005

Order Name (ชื่อการทดสอบ):
Pregnenolone, Serum **

 
Specimen / Container (สิ่งส่งตรวจ/ภาชนะ):
Blood/ Plain blood (Red top) 6 mL, 2 tubes
 
 
Turnaround Time (ระยะเวลารอผล):
Received specimen to reported within 14 days
(exception for official holidays)
 
Useful For (ประโยชน์การทดสอบ):

An ancillary test for congenital adrenal hyperplasia, particularly in situations in which a diagnosis of 21-hydroxylase and 11-hydroxylase deficiency have been ruled out

Confirming a diagnosis of 3-beta-hydroxy dehydrogenase deficiency

 
Methodology (วิธีการทดสอบ):
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
 
 
 
Test Code (รหัสการทดสอบ):
090-31-4005

Order Name (ชื่อการทดสอบ):
Pregnenolone, Serum **

 
Patient Preparation (การเตรียมตัวผู้ป่วย):
N/A
 
Collection Specimen Or Container (สิ่งส่งตรวจ/ภาชนะ):
Blood/ Plain blood (Red top) 6 mL, 2 tubes
 
 
Specimen Testing Type (สิ่งส่งตรวจที่ใช้ในการทดสอบ):
Serum, minimum volume 1 mL x 2 tubes
 
 
Sub Mission Container (ภาชนะส่งตรวจ):
Plastic tube
 
Rejection Criteria (เกณฑ์ปฏิเสธสิ่งส่งตรวจ):
N/A
 
Specimen Stabillity (ความคงตัวของสิ่งส่งตรวจ):
Specimen Type Temperature Time
Serum Frozen  28 days
 
 
 
Test Code (รหัสการทดสอบ):
090-31-4005

Order Name (ชื่อการทดสอบ):
Pregnenolone, Serum **

 
Method detail (วิธีการทดสอบ):
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
 
Schedule (ตารางการทดสอบ):
N/A **Sent out to MAYO, USA
 
Turnaround Time (ระยะเวลารอผล):
Received specimen to reported within 14 days
(exception for official holidays)
 
Performing Location (หน่วยงานที่ทำการทดสอบ):
MAYO Laboratory 
Referral Lab Services, Laboratory Department 14160-2
 
 
 
Test Code (รหัสการทดสอบ):
090-31-4005

Order Name (ชื่อการทดสอบ):
Pregnenolone, Serum **

 
 
Clinical Information (ข้อมูลทางคลินิก):

Pregnenolone, Serum is an ancillary test for congenital adrenal hyperplasia, particularly in situations in which a diagnosis of 21-hydroxylase and 11-hydroxylase deficiency have been ruled out, Confirming a diagnosis of 3-beta-hydroxy dehydrogenase deficiency.

 
Reference Value (ค่าอ้างอิง):
Refer to Mayo Reference range มีการแปลผลตามเพศและอายุ
 
Interpretation (การแปลผล):

Diagnosis and differential diagnosis of congenital adrenal hyperplasia (CAH) always require the measurement of several steroids. Patients with CAH due to steroid 21-hydroxylase gene (CYP21A2) mutations usually have very high levels of androstenedione, often 5-fold to 10-fold elevations. 17-Hydroxyprogesterone (17-OHPG) levels are usually even higher, while cortisol levels are low or undetectable. All 3 analytes should be tested.

For the HSD3B2 mutation, cortisol, 17-OHPG and progesterone levels will be will be decreased; 17-hydroxypregnenolone and pregnenolone and dehydroepiandrosterone levels will be increased.

In the much less common CYP11A1 mutation, androstenedione levels are elevated to a similar extent as seen in CYP21A2 mutation, and cortisol also is low, but 17-OHPG is only mildly, if at all, elevated.

In the also very rare 17-hydroxylase deficiency, androstenedione, all other androgen-precursors (17-alpha-hydroxypregnenolone, 17-OHPG, dehydroepiandrosterone sulfate), androgens (testosterone, estrone, estradiol), and cortisol are low, while production of mineral corticoid and its precursors (in particular pregnenolone, 11-dexycorticosterone, corticosterone, and 18-hydroxycorticosterone) are increased.

 
Clinical Reference (เอกสารอ้างอิง):
www.mayocliniclabs.com (Retrieved: 10 July 2020)