Test Catalog

Test Id : CAH2T

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Congenital Adrenal Hyperplasia Newborn Screen, Blood Spot

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Overview

Test Catalog

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 genetic test or proper submission of the test request

This test is a second-tier newborn screen for the diagnosis of congenital adrenal hyperplasia.

Method Name
A short description of the method used to perform the test

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

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

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

CAH Newborn Screen, BS

Aliases
Lists additional common names for a test, as an aid in searching

11-beta-Hydroxylase Deficiency

17 OHP (17-Hydroxyprogesterone)

17-Hydroxyprogesterone

21 Hydroxylase Deficiency

Blood Spots

CAH (Congenital Adrenal Hyperplasia)

Congenital Adrenal Hyperplasia (CAH)

Newborn Screen

CYP21

CYP11B1

Specimen Type
Describes the specimen type validated for testing

Whole blood

Necessary Information

Birth weight, time of birth, and gestational age are required.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
BG688 Birth Weight (grams, XXXX)
BG689 Time of Birth (24hr time, XX:XX)
BG690 Gestational Age (weeks, XX.X)

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Blood Spot Collection Card

Acceptable: Local newborn screening card, Whatman 903 filter paper, PerkinElmer 226 filter paper, Munktell filter paper

Specimen Volume: 2 Blood spots

Collection Instructions:

1. Do not use device or capillary tube containing EDTA to collect specimen.

2. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).

3. Let blood dry on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

4. Do not expose specimen to heat or direct sunlight.

5. Do not stack wet specimens.

6. Keep specimen dry.

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.

1 Blood spot

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Blood spot specimen that shows serum rings or has multiple layers Reject
Insufficient specimen Reject
Unapproved filter papers Reject

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred) 90 days FILTER PAPER
Frozen 90 days FILTER PAPER
Refrigerated 90 days FILTER PAPER

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 genetic test or proper submission of the test request

This test is a second-tier newborn screen for the diagnosis of congenital adrenal hyperplasia.

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, most commonly, 21-hydroxylase deficiency (approximately 90% of cases) and 11-beta hydroxylase deficiency (approximately 5% of cases). The overall incidence of CAH due to 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 sex assignment of virilized females, which occurs due to in utero exposure to reduced glucocorticoids and mineralocorticoids and elevated 17-hydroxyprogesterone (17-OHP) and androgens. Hormone replacement therapy, when initiated early, results in 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 in the newborn screen setting. 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 blood spots significantly enhances the correct identification of patients with CAH and reduces the number of false-positive screening results when implemented as a second-tier analysis performed prior to reporting of initial newborn screen 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 (17-OHP)

<15.1 ng/mL

 

ANDROSTENEDIONE

<3.1 ng/mL

 

CORTISOL

Not applicable

 

11-DEOXYCORTISOL

<15.1 ng/mL

 

21-DEOXYCORTISOL

<4.1 ng/mL

 

(17-OHP + ANDROSTENEDIONE)/CORTISOL RATIO

<1.1

Note: Abnormal (17-OHP + Androstenedione)/Cortisol Ratio: > or =1.1 is only applicable when 17-OHP is elevated

 

11-DEOXYCORTISOL/CORTISOL RATIO

Not applicable

Interpretation
Provides information to assist in interpretation of the test results

Findings of a 17-hydroxyprogesterone (17-OHP) value greater than 15.0 ng/mL and a high (17-OHP + androstenedione)/cortisol ratio (> or =1) are supportive of the initial abnormal newborn screening result.

 

Findings of an 11-deoxycortisol value greater than 15.0 ng/mL or 21-deoxycortisol greater than 4.0 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 its 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; order OHPG / 17-Hydroxyprogesterone, Serum and DOCS / 11- Deoxycorticosterone, Serum.

 

Deoxycorticosterone (DOC) coelutes with 17-OHP. DOC is a precursor of aldosterone in the steroidogenesis pathway. It is not elevated in patients with classic congenital adrenal hyperplasia (CAH) due to 21-alpha-hydroxylase deficiency; indeed, its production is lacking in this deficiency. However, DOC is expected to be elevated in other variants of CAH, specifically 11-alpha-hydroxylase deficiency (which also includes elevations of 11-deoxy) and 17-alpha-hydroxylase/17,20-lyase deficiency (none of the other targeted steroids are elevated in this condition). Therefore, if this assay was applied as a first-tier screening assay, a finding of elevated DOC and/or 17-OHP can uncover clinically relevant variants of CAH that would be confirmed through follow-up testing. Because this assay's goal is to identify patients with CAH but not exclusively 17-alpha-hydroxylase deficiency, the separation of 17-OHP and DOC during screening is not essential and may lead to a quicker diagnosis of at-risk patients for these rarer variants of CAH. However, as a second-tier test performed only when the first-tier test for 17-OHP is abnormal, 17-alpha-hydroxylase/17,20-lyase deficiency will not be uncovered because 17-OHP is not elevated in that condition.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Claahsen-van der Grinten HL, Speiser PW, et al. Congenital adrenal hyperplasia-Current insights in pathophysiology, diagnostics, and management. Endocr Rev. 2022;43(1):91-159. doi:10.1210/endrev/bnab016

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. Turcu AF, Auchus RJ. The next 150 years of congenital adrenal hyperplasia. J Steroid Biochem Mol Biol. 2015;153:63-714

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 1/8-inch disk is punched out of the blood spot into a 96-well filter plate. Internal standards are added to the filter plate. The punched disks are eluted and centrifuged, then dried under nitrogen and reconstituted with water:methanol. Analysis is by electrospray liquid chromatography-tandem mass spectrometry. The concentration of 17-hydroxyprogesterone, androstenedione, cortisol, 11-deoxycortisol, and 21-deoxycortisol are established by comparison of their ion intensity to that of their respective internal standards.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Saturday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

1 to 3 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

2 years

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their account representative. For assistance, contact Customer Service.

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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

82542

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
CAH2T CAH Newborn Screen, BS 57086-1
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
42207 17-OH Progesterone 38473-5
42208 Androstenedione 53343-0
42209 Cortisol 53345-5
42210 11-deoxycortisol 53338-0
42211 21-deoxycortisol 53341-4
42212 (17OHP+Androstenedione)/Cortisol 53336-4
42213 11-deoxycortisol/Cortisol No LOINC Needed
42214 Interpretation (CAH2T) 46758-9
BG688 Birth Weight (grams, XXXX) 8339-4
BG689 Time of Birth (24hr time, XX:XX) 57715-5
BG690 Gestational Age (weeks, XX.X) 76516-4
42206 Reviewed By 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports