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Test Code CAH2T Congenital Adrenal Hyperplasia Newborn Screen, Blood Spot


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)


Useful For

Second-tier testing of newborns with abnormal screening result for 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

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

Day(s) Performed

Monday through Saturday

Report Available

1 to 3 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CAH2T CAH Newborn Screen, BS 57086-1

 

Result ID Test Result Name Result LOINC Value
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
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
42214 Interpretation (CAH2T) 46758-9