| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Test Id : ALADW
Aminolevulinic Acid Dehydratase, Washed Erythrocytes
Useful For
Suggests clinical disorders or settings where the test may be helpful
Suggests clinical disorders or settings where the test may be helpful
Confirmation of a diagnosis of aminolevulinic acid dehydratase deficiency porphyria using washed erythrocyte specimens
This test is not useful for detecting lead intoxication.
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Aminolevulinic acid dehydratase (ALAD) activity is inhibited in other situations including hereditary tyrosinemia type 1, lead intoxication, and exposure to styrene, trichloroethylene, or bromobenzene. These causes should be ruled out when considering a diagnosis of ALAD deficiency porphyria (ADP). This method will not exhibit a decreased ALAD enzyme activity due to lead intoxication.
This test will not detect lead intoxication.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
The following algorithms are available in Special Instructions:
-Porphyria (Acute) Testing Algorithm
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Library of PDFs including pertinent information and forms related to the test
Method Name
A short description of the method used to perform the test
A short description of the method used to perform the test
Enzymatic End point/Spectrofluorometric
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
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
Lists a shorter or abbreviated version of the Published Name for a test
ALA Dehydratase, RBC
Aliases
Lists additional common names for a test, as an aid in searching
Lists additional common names for a test, as an aid in searching
ALA-D (Aminolevulinic Acid Dehydratase) Deficiency Porphyria (ADP)
Porphobilinogen (PBG) Synthase
Doss Porphyria
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
The following algorithms are available in Special Instructions:
-Porphyria (Acute) Testing Algorithm
Specimen Type
Describes the specimen type validated for testing
Describes the specimen type validated for testing
Washed RBC
Ordering Guidance
This assay is not useful in assessment of lead intoxication as it reactivates aminolevulinic acid dehydratase that has been inhibited by lead. The preferred test for lead toxicity is PBDB / Lead with Demographics, Blood.
Necessary Information
2. Include a list of medications the patient is currently taking.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Patient Preparation: Abstinence from alcohol is essential for at least 24 hours prior to specimen collection as ethanol suppresses aminolevulinic acid dehydratase (ALAD) activity, leading to false-positive results.
Collection Container/Tube:
Preferred: Green top (sodium heparin)
Acceptable: Lavender top (EDTA) or green top (lithium heparin)
Submission Container/Tube: Plastic vial
Specimen Volume: Entire washed erythrocyte suspension
Collection Instructions: Process entire specimen as follows:
1. Transfer entire specimen to a 12-mL graduated centrifuge tube.
2. Centrifuge specimen for 10 minutes at 2000 rpm.
3. Record volume of packed cells and the total volume of the specimen.
4. Discard supernatant plasma.
5. Wash packed erythrocytes 2 times by resuspension of at least an equal amount of cold 0.9% saline, mix, and centrifuge for 5 minutes at 2000 rpm, discarding supernatant after each washing.
6. Resuspend packed cells to the original total volume with 0.9% saline. Invert specimen gently to mix.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Library of PDFs including pertinent information and forms related to the test
Forms
New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
1 mL of washed and resuspended erythrocytes
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Identifies specimen types and conditions that may cause the specimen to be rejected
| Other | Cell suspension not available |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
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 |
|---|---|---|---|
| Washed RBC | Frozen (preferred) | 7 days | |
| Refrigerated | 14 days | ||
| Ambient | 4 days |
Useful For
Suggests clinical disorders or settings where the test may be helpful
Suggests clinical disorders or settings where the test may be helpful
Confirmation of a diagnosis of aminolevulinic acid dehydratase deficiency porphyria using washed erythrocyte specimens
This test is not useful for detecting lead intoxication.
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Aminolevulinic acid dehydratase (ALAD) activity is inhibited in other situations including hereditary tyrosinemia type 1, lead intoxication, and exposure to styrene, trichloroethylene, or bromobenzene. These causes should be ruled out when considering a diagnosis of ALAD deficiency porphyria (ADP). This method will not exhibit a decreased ALAD enzyme activity due to lead intoxication.
This test will not detect lead intoxication.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
The following algorithms are available in Special Instructions:
-Porphyria (Acute) Testing Algorithm
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. A defect in the second enzyme of this pathway causes 5-aminolevulinic acid (ALA) dehydratase (ALAD) deficiency porphyria (ADP). A marked deficiency of ALAD causes the accumulation and subsequent urinary excretion of large amounts of ALA. Urinary porphobilinogen (PBG) remains essentially normal, which rules out other forms of acute porphyria.
ADP is an autosomal recessive acute hepatic porphyria that produces neurologic symptoms similar to those seen in acute intermittent porphyria. Symptoms include acute abdominal pain, peripheral neuropathy, nausea, vomiting, constipation, and diarrhea. Respiratory impairment, seizures, and psychosis are possible during an acute period. ADP is extremely rare with only 7 cases described in the literature since 1979.
The workup of patients with a suspected porphyria is most effective when following a stepwise approach. See Porphyria (Acute) Testing Algorithm in Special Instructions or call 800-533-1710 to discuss testing strategies.
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.
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.
Reference ranges have not been established for patients who are <16 years of age.
> or =4.0 nmol/L/sec
3.5-3.9 nmol/L/sec (indeterminate)
<3.5 nmol/L/sec (diminished)
Interpretation
Provides information to assist in interpretation of the test results
Provides information to assist in interpretation of the test results
Abnormal results are reported with a detailed interpretation including an overview of the results and their significance, a correlation to available clinical information provided with the specimen, differential diagnosis, and recommendations for additional testing when indicated and available.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
False-positive values may result from enzyme degradation due to improper specimen handling. It is essential to adhere to instructions outlined in the Specimen Required and the Specimen Stability Information fields.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
Recommendations for in-depth reading of a clinical nature
1. Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition. Edited by DJ Dietzen, MJ Bennett, ECC Wong. AACC Press, 2010, pp 307-324
2. Nuttall KL, Klee GG: Analytes of hemoglobin metabolism - porphyrins, iron, and bilirubin. In Tietz Textbook of Clinical Chemistry. Fifth edition. Edited by CA Burtis, ER Ashwood. WB Saunders Company, 2001, pp 584-607
3. Anderson KE, Sassa S, Bishop DF, Desnick RJ: Disorders of Heme Biosynthesis: X-Linked Sideroblastic Anemia and the Porphyrias In The Online Metabolic and Molecular Bases of Inherited Disease. Edited by D Valle, AL Beaudet, B Vogelstein, et al. McGraw-Hill, Accessed August 9, 2017 Available at http://ommbid.mhmedical.com/content.aspx?bookid=971&Sectionid=62638866
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Library of PDFs including pertinent information and forms related to the test
Method Description
Describes how the test is performed and provides a method-specific reference
Describes how the test is performed and provides a method-specific reference
Measurement of aminolevulinic acid (ALA) dehydratase (ALAD) activity is based on the rate of synthesis of uroporphyrin from ALA in incubated, lysed erythrocytes. Low yield of uroporphyrin from ALA indicates a deficiency of ALAD.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
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.
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.
Tuesday, Thursday
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.
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.
2 to 4 days
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
14 days
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
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.
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 Regional Manager. 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.
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. This test 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.
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.
CPT codes are provided by the performing laboratory.
82657
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.
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 |
|---|---|---|
| ALADW | ALA Dehydratase, RBC | 2813-4 |
| 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.
|
|---|---|---|
| 31946 | ALA Dehydratase | 2813-4 |
| 31948 | Interpretation | 59462-2 |
| BG573 | Total Cell Suspension | 94496-7 |
| BG574 | Packed Cell Volume | 94497-5 |
| 606469 | 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.
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.
Normal and Abnormal sample reports are provided as references for report appearance.
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.
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.