Test ID CAH2T Congenital Adrenal Hyperplasia Newborn Screen, Blood Spot
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, BSSpecimen Type
Whole bloodNecessary 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 |
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 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest 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 |
Special Instructions
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.