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Test ID: FCAH
CAH Pediatric Profile 5: 17,20 Desmolase Deficiency (Androstene- dione, Cortisol, DHEA, 17-OH-Prenenolone, Progesterone, 17-Alpha- Hydroxyprogesterone, Testosterone)

Secondary ID A test code used for billing and in test definitions created prior to November 2011

91165

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

Yes

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

Radioimmunoassay (RIA)

High Performance 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

CAH Profile 5

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

17,20 Desmolase Def Screen-FORWARD
CAH 5 FORWARD
Congenital Adrenal Hyperplasia FORWARD

Specimen Type Describes the specimen type needed for testing

Serum

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.

Draw blood in a plain, red-top tube(s) or serum gel tube(s). Separate

within one hour and send 3 mL of serum frozen in plastic vial.

Specimens drawn in serum gel tube(s) must be poured off into a plastic

screw cap vial before freezing.

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.

1.5 mL
NOTE: Minimum volume does not allow for repeat analysis.

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

Specimens other than

Serum

Anticoagulants other than

NA

Hemolysis

NA

Thawing

Warm reject; Cold reject

Lipemia

NA

Icteric

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 TypeTemperatureTime
SerumFrozen30 days

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.

Androstenedione, Mass Spec

     Units:  ng/dL

Age                                                      Range

Premature (26-28w) Day 4                      63 - 935

Premature (31-35w) Day 4                      50 - 449

Full Term (1 week)                               <10 - 279

           

Levels decrease rapidly to <52 ng/dL after one week.

 

1m-11m                                             <10 - 37

 

Androstenedione gradually decreases during the first six

months to prepubertal levels.

           

Prepubertal Children                           <10 - 17

Adult Males                                          44 - 186

Adult Females                                      28 - 230

Females Postmenopausal                   <10 – 93

 

Tanner Stages               Age (years)        Range

          1                          <9.2                 <10-17

          2                         9.2-13.7            <10-72

          3                         10.0-14.4             50-170

          4                         10.7-15.6             47-208

          5                         11.8-18.6             50-224

 

Males

Tanner Stages               Age (years)         Range

          1                          <9.8                  <10-17

          2                            9.8-14.5         <10-33

          3                         10.7-15.4             17-72 

          4                         11.8-16.2             15-115           

          5                         12.8-17.3             33-192

 

Cortisol, Serum or Plasma

     Units:  ug/dL

Age                                           Range

Premature (26-28w) Day 4          1.0 - 11

Premature (31-35w) Day 4          2.5 - 9.1

Full Term Day 3                         1.7 - 14

Full Term Day 7                         2.0 - 11

 31d - 11m                                 2.8 - 23

12m - 15y (8:00 AM)                  3 .0 - 21

 

Adults

   8:00 AM                                 8.0 - 19

   4:00 PM                                 4.0 - 11

 

Dehydroepiandrosterone (DHEA), Serum

     Units:  ng/dL

Age                                      Range

1-5 yrs                                   <68

6-7 yrs                                   <111

8-10 yrs                                 <186

11-12 yrs                                <202

13-14 yrs                                <319

15-16 yrs                                39-481

17-19 yrs                                40-491

20-49 yrs                                31-701

> or = 50 yrs                           21-402        

 

17-OH Pregnenolone, Mass Spec

      Units:  ng/dL

Age                                          Range                              

Premature (26-28w) Day 4         375 - 3559

Premature (31-35w) Day 4           64 - 2380

3 Days                                      10 - 829

1 - 5m                                       36 - 763

6 - 11m                                      42 - 540

12 - 23m                                   14 - 207

24m  - 5y                                   10 - 103

6 - 9y                                        10 - 186

Pubertal                                     44 - 235

Adults                                        53 - 357

 

Progesterone, Serum

     Units:  ng/dL

Males

Agw                                          Range                    

1-16y                                      <10-15

Adults                                     <10-11

 

Females

Age                                          Range                    

1-10y                                      <10-26

    11y                                     <10-255

    12y                                     <10-856

    13y                                     <10-693

    14y                                     <10-1204

    15y                                     <10-1076

    16y                                     <10-1294

 

Adult

Cycle Days                                Range

1-6                                           <10-17

7-12                                         <10-135

13-15                                       <10-1563

16-28                                       <10-2555

Post Menopausal                     <10

Note:  Luteal progesterone peaked from 350 to 3750 ng/dL on days

ranging from 17 to 23.

 

17-Alpha-Hydroxyprogesterone, Serum

     Units:  ng/dL    

 Age                                         Range            

Premature (26-28w) Day 4        124 - 841

Premature (31-35w) Day 4          26 - 568

 

Full-Term Day 3                          <78

 

Males: Levels increase after the first week to peak values

ranging from 40 - 200 between 30 and 60 days. Values then

decline to a prepubertal value of <91 before one year.

 

      Prepubertal                        <91     

     Adult Males                       27 - 199

Females

      1 - 11m                            13 - 106

      Prepubertal                         <91

Adult Females

      Follicular                          15 - 70

      Luteal                               35 – 290

 

Females

Tanner Stages               Age (years)       Range

          1                          <9.2                  <83

          2                         9.2-13.7            11-98

          3                         10.0-14.4           11-155

          4                         10.7-15.6           18-230

          5                         11.8-18.6           20-265

 

Males

Tanner Stages               Age (years)       Range

          1                          <9.8                   <91

          2                            9.8-14.5           <116

          3                         10.7-15.4             10-138

          4                         11.8-16.2             29-180

          5                         12.8-17.3             24-175

 

Testosterone, Serum (Total)

     Units:  ng/dL         

 Age                                                     Range

Males                                 

  Premature (26-28w) Day 4                    59 - 125

  Premature (31-35w) Day 4                    37 - 198

  Newborns                                           75 - 400

 

1 - 7m:  Levels decrease rapidly the first week to 20 - 50, then

increase to 60 - 400 between 20 - 60 days. Levels then decline

to prepubertal range levels of <2.5 - 10 by seven months.

 

Females

  Premature (26 - 28w) Day 4                  5 - 16

  Premature (31 - 35w) Day 4                  5 - 22

  Newborns                                          20 - 64

 

1 - 7m: Levels decrease during the first month to less than 10

and remain there until puberty.

 

Prepubertal Males and Females                <2.5 - 10

Adult Males  >18 years                              348 - 1197

Adult Females                                                  

            Premenopausal:                             10 - 55

            Postmenopausal:                             7 - 40

 

 Males

Tanner Stage           Age (years)             Male

      1                                 <9.8          <2.5 - 10

      2                           9.8 - 14.5           18 - 150

      3                         10.7 - 15.4          100 - 320

      4                         11.8 - 16.2          200 - 620

      5                         12.8 - 17.3          350 - 970

 

Females

Tanner Stage          Age (years)           Female

      1                              <9.2              <2.5 - 10

      2                            9.2 - 13.7           7 - 28

      3                          10.0 - 14.4          15 - 35

      4                          10.7 - 15.6          13 - 32

      5                          11.8 - 18.6          20 - 38

 

 

Test Performed by: Esoterix Endocrinology

                             4301 Lost Hills Road

                             Calabasas Hills, CA  91301

 

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.

Tuesday, Thursday through Saturday

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.

3-6 days

Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result

5 - 10 days

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

6 months

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

Esoterix Endocrinology

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.

82157/Androstenedione

82533/Cortisol

82626/DHEA

83498/17-OH Progesterone

84143/17-OH Pregnenolone

84144/Progesterone

84403/Testosterone

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 IDReporting NameLOINC Code
Z0218Cortisol2143-6
Z0223Dehydroepiandrosterone (DHEA)2193-1
Z022017-OH Pregnenolone6765-2
Z0222Progesterone2839-9
Z022117-Alpha-Hydroxyprogesterone1668-3
Z0224Androstenedione1854-9
Z0219Testosterone, Serum (Total)2986-8