Test ID: CAHBS
Congenital Adrenal Hyperplasia (CAH) Newborn Screening, Blood Spot
NY State Approved 
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Second-tier testing of newborns with abnormal screening result for congenital adrenal hyperplasia
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Second-tier newborn screen.
Method Name A short description of the method used to perform the test
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
17 OHP (17-Hydroxyprogesterone)
17-Hydroxyprogesterone
17-OHP (17-Hydroxyprogesterone)
21 Hydroxylase Deficiency
21-Hydroxylase Deficiency
Blood Spots
CAH (Congenital Adrenal Hyperplasia)
Congenital Adrenal Hyperplasia (CAH)
Newborn Screen
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Container/Tube: Local newborn screening card
Specimen Volume: 2 blood spots
Collection Instructions:
1. Do not use device or capillary tube containing EDTA to collect specimen.
2. At least 1 spot should be complete, unpunched.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
6. If collection of a new specimen is necessary, let blood dry on the Supplemental Newborn Screening Card (Supply T493) at ambient temperature in a horizontal position for 3 hours.
Forms: If not ordering electronically, submit a Biochemical Genetics Request Form (Supply T439) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | NA |
| Lipemia | NA |
| Icterus | NA |
| Other | NA |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Ambient (preferred) | |
| Frozen | ||
| Refrigerated | ||
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Congenital adrenal hyperplasia (CAH) is a group of disorders caused by inherited defects in steroid biosynthesis, in particular, 21-hydroxylase deficiency (approximately 90% of cases) and 11-beta hydroxylase deficiency (approximately 5% of cases). The overall incidence of the classic form of 21-hydroxylase deficiency is approximately 1 in 15,000 live births. Individuals with CAH may present with life-threatening, salt-wasting crises in the newborn period and incorrect gender assignment of virilized females as a result of reduced glucocorticoids and mineralocorticoids and elevated 17-hydroxyprogesterone (17-OHP) and androgens. Hormone replacement therapy, when initiated early, enables a significant reduction in morbidity and mortality. Therefore, newborn screening for CAH is desirable and has been implemented in all 50 states.
Immunoassays are typically used to quantify 17-OHP as a marker for CAH. However, these immunoassays are hampered by cross-reactivity of the antibodies with other steroids, yielding a high rate of false-positive results. Tandem mass spectrometry allows for the simultaneous specific determination of 17-OHP and other steroids, such as androstenedione, cortisol, 11-deoxycortisol, and 21-deoxycortisol. Application of this technology to the determination of steroids in newborn screening blood spots significantly enhances the correct identification of patients with CAH and reduces the number of false-positive screening results.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
17-HYDROXYPROGESTERONE
Males: <7.1 ng/mL
Females: <4.1 ng/Ml
ANDROSTENEDIONE
<3.1 ng/mL
CORTISOL
>2.5 ng/Ml
11-DEOXYCORTISOL
<10.1 ng/mL
21-DEOXYCORTISOL
<1.7 ng/Ml
(17 OHP + ANDROSTENEDIONE)/ CORTISOL RATIO
<2.51
Note: Abnormal (17 OHP + Androstenedione)/Cortisol Ratio: >2.5 is only applicable when 17-OHP is elevated
11-DEOXYCORTISOL/CORTISOL RATIO
<1.1
Interpretation Provides information to assist in interpretation of the test results
Findings of a 17-hydroxyprogesterone (17-OHP) value >7.0 ng/mL in males or >4.0 ng/mL in females, and a high (17-OHP + androstenedione)/cortisol ratio (controls: < or =2.5) are supportive of the initial abnormal newborn screening result. Findings of an 11-deoxycortisol value >10.0 ng/mL or 21-deoxycortisol >1.6 ng/mL with elevated 17-OHP further support the abnormal newborn screening result and increase the diagnostic specificity. Clinical and laboratory follow-up is strongly recommended.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This is a screening test and, while it's positive predictive value is significantly higher than that of immunoassays (9.0% versus 0.5%), false-positive results can occur. Follow-up of abnormal results is necessary; perform OHPG/9231 17-Hydroxyprogesterone, Serum and DOC/8547 Deoxycortisol, Plasma on a serum specimen.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Antal Z, Zhou P: Congenital adrenal hyperplasia: diagnosis, evaluation and management. Pediatr Rev 2009 Jul;30(7):e49-57
2. Minutti CZ, Lacey JM, Magera MJ, et al: Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endo Met 2004;89:3687-3693
3. Speiser PW, White PC: Congenital adrenal hyperplasia. N Engl J Med 2003 August 21;349(8):776-788
4. Witchel SF, Azziz R: Congenital adrenal hyperplasia. Pediatri Adolesc Gynecol 2011;24:116-126
Method Description Describes how the test is performed and provides a method-specific reference
A 3/16-inch disk is punched out of the blood spot into a 96-well filter plate. Water plus 10% acetone containing the internal standards d817-OHP, d7-androstenedione, d3-cortisol, d2-11-deoxycortisol, and d8-21-deoxycortisol, is added to the filter plate. The punched disks are allowed to elute at room temperature on an orbital shaker for 30 minutes. The blood spot eluate is then centrifuged into a 96-well round bottom plate. Extraction of steroids from the blood spot eluate is performed by turbulent flow chromatography and analysis is by electrospray liquid chromatography-tandem mass spectrometry (LC-MS/MS). The concentration of 17-OHP, androstenedione, cortisol, 11-deoxycortisol, and 21-deoxycortisol are established by comparison of their ion intensity to that of their respective internal standards.(Lacey JM, Magera MJ, Di Bussolo JM, et al: Development of a method for the determination of congenital adrenal hyperplasia [CAH] by turbulent flow chromatography and LC-MS/MS. 2007 AACC Annual Meeting, San Diego, CA, July 2007)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday through Friday; 8:00 AM, Friday and Saturday; 4:00 PM
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
83788
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 50545 | 17-OH Progesterone | 38473-5 |
| 50546 | Androstenedione | 53343-0 |
| 50547 | Cortisol | 53345-5 |
| 50548 | 11-deoxycortisol | 53338-0 |
| 50549 | 21-deoxycortisol | 53341-4 |
| 50550 | (17OHP+Androstenedione)/Cortisol | In Process |
| 50551 | 11-deoxycortisol/Cortisol | 45184-9 |
| 24053 | Interpretation | 59462-2 |
| 24055 | Reviewed By | N/A |
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