Sign in →

Catalog ID CAH21 Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum

Reporting Name

CAH 21-Hydroxylase Profile

Useful For

Preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency

 

Part of a battery of tests to evaluate women with hirsutism or infertility, which can result from adult-onset CAH

Profile Information

Test ID Reporting Name Available Separately Always Performed
CORTI Cortisol, S Yes, (order CINP) Yes
ANDRO Androstenedione, S Yes, (order ANST) Yes
H17 17-Hydroxyprogesterone, S Yes, (order OHPG) Yes

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Serum Red


Ordering Guidance


This profile provides the simultaneous determination of 17-hydroxyprogesterone, androstenedione, and cortisol. These steroids can also be ordered individually: OHPG / 17-Hydroxyprogesterone, Serum; ANST / Androstenedione, Serum; and CINP / Cortisol, Mass Spectrometry, Serum.



Specimen Required


Collection Container/Tube: Red top (serum gel/SST are not acceptable)

Specimen Volume: 0.6 mL

Submission Container/Tube: Plastic vial

Collection Instructions:

1. Morning (8 a.m.) and afternoon (4 p.m.) specimens are preferred.

2. Include time of collection.

3. Centrifuge and aliquot serum into a plastic vial.

Additional Information: If multiple specimens are collected, send separate order for each specimen.


AUMC Laboratory Catalog Note:

Collect 1.5 mL blood in Red top tube.

Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Red Refrigerated (preferred) 14 days
  Frozen  28 days
  Ambient  7 days

Reference Values

CORTISOL

5-25 mcg/dL (a.m.)

2-14 mcg/dL (p.m.)

Pediatric reference ranges are the same as adults, as confirmed by peer-reviewed literature.

Petersen KE. ACTH in normal children and children with pituitary and adrenal diseases. I. Measurement in plasma by radioimmunoassay-basal values. Acta Paediatr Scand. 1981;70(3):341-345

 

ANDROSTENEDIONE

PEDIATRICS*

Premature infants

26-28 weeks, day 4: 92-282 ng/dL

31-35 weeks, day 4: 80-446 ng/dL

Full-term infants

1-7 days: 20-290 ng/dL

1 month-1 year: <69 ng/dL

 

Males*

Tanner stages

Age (Years)

Reference range (ng/dL)

Stage I (prepubertal)

<9.8

<51

Stage II

9.8-14.5

31-65

Stage III

10.7-15.4

50-100

Stage IV

11.8-16.2

48-140

Stage V

12.8-17.3

65-210

 

Females*

Tanner stages

Age (Years)

Reference range (ng/dL)

Stage I (prepubertal)

<9.2

<51

Stage II

9.2-13.7

42-100

Stage III

10.0-14.4

80-190

Stage IV

10.7-15.6

77-225

Stage V

11.8-18.6

80-240

*Soldin SJ, Brugnara C, Wong EC. Androstenedione. In: Pediatric Reference Ranges. 4th ed. AACC Press; 2003:32-34

 

ADULTS

Males: 40-150 ng/dL

Females: 30-200 ng/dL

 

17-HYDROXYPROGESTERONE

Children

Preterm infants: Preterm infants may exceed 630 ng/dL, however, it is uncommon to see levels reach 1,000 ng/dL.

Term infants

0-28 days: <630 ng/dL

Levels fall from newborn (<630 ng/dL) to prepubertal gradually within 6 months.

Prepubertal males: <110 ng/dL

Prepubertal females: <100 ng/dL

 

Adults

Males: <220 ng/dL

Females

Follicular: <80 ng/dL

Luteal: <285 ng/dL

Postmenopausal: <51 ng/dL

 

Note: For pregnancy reference ranges, see: Soldin OP, Guo T, Weiderpass E, Tractenberg RE, Hilakivi-Clarke L, Soldin SJ. Steroid hormone levels in pregnancy and 1 year postpartum using isotope dilution tandem mass spectrometry. Fertil Steril. 2005;84(3):701-710

Day(s) Performed

Monday through Friday

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82157

82533

83498

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CAH21 CAH 21-Hydroxylase Profile 79221-8

 

Result ID Test Result Name Result LOINC Value
30041 Androstenedione, S 1854-9
30042 17-Hydroxyprogesterone, S 1668-3
30040 Cortisol, S 2143-6
30070 AM Cortisol 9813-7
30071 PM Cortisol 9812-9

Report Available

2 to 5 days

Reject Due To

Gross hemolysis OK
Gross lipemia Reject
Gross icterus OK

Method Name

Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

Portions of this test are covered by patents held by Quest Diagnostics

Forms

If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.