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Order Code CAH2T Congenital Adrenal Hyperplasia Newborn Screen, Blood Spot

Useful For

Second-tier testing of newborns with abnormal screening result for congenital adrenal hyperplasia

Genetics Test Information

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

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 Newborn Screen, BS

Specimen Type

Whole blood


Necessary Information


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



Specimen Required


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)


Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

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

Reject Due To

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

Reference Values

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: ≥1.1 is only applicable when 17-OHP is elevated

 

11-DEOXYCORTISOL/CORTISOL RATIO

Not applicable

Method Description

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)

Day(s) Performed

Monday through Saturday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542