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HelpTest ID CAH21 Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum
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
Genetics Test Information
This is the preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency. It is also useful as part of a battery of tests to evaluate females with hirsutism or infertility, which can result from adult-onset CAH.
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Portions of this test are covered by patents held by Quest Diagnostics
Reporting Name
CAH 21-Hydroxylase ProfileSpecimen Type
Serum RedOrdering 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.
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
Performing Laboratory
Mayo Clinic Laboratories in Rochester
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 |
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.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 |
Report Available
2 to 5 daysNY State Approved
YesForms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.