Sign in →

Test ID: ALADW Aminolevulinic Acid Dehydratase (ALA-D), Washed Erythrocytes

Reporting Name

ALA Dehydratase, RBC

Useful For

Confirmation of a diagnosis of aminolevulinic acid dehydratase deficiency porphyria

Testing Algorithm

The following algorithms are available in Special Instructions:

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

Specimen Type

Washed RBC


Specimen Required


All porphyrin tests on erythrocytes can be performed on 1 draw tube.

 

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:

1. Patient should abstain from alcohol for 24 hours.

2. Process entire specimen as follows:

a. Immediately place specimen on wet ice.

b. Transfer entire specimen to a 12-mL graduated centrifuge tube.

c. Centrifuge specimen for 10 minutes at 2,000 rpm.

d. Record volume of packed cells and the total volume of the specimen.

e. Discard supernatant plasma.

f. 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 2,000 rpm, discarding supernatant after each washing.

g. Resuspend packed cells to the original total volume with 0.9% saline. Invert specimen gently to mix.

Additional Information:

1. Volume of packed cells and total volume of erythrocyte suspension (red cells + saline) are required and must be sent with specimen.

2. Include a list of medications the patient is currently taking.


Specimen Minimum Volume

1 mL of washed and resuspended erythrocytes

Specimen Stability Information

Specimen Type Temperature Time
Washed RBC Frozen 24 hours

Reference Values

Reference ranges have not been established for patients who are <16 years of age.

 

≥4.0 nmol/L/sec

3.5-3.9 nmol/L/sec (indeterminate)

<3.5 nmol/L/sec (diminished)

Day(s) and Time(s) Performed

Monday, Wednesday, Friday; 8 a.m.

Test Classification

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 U.S. Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ALADW ALA Dehydratase, RBC 2813-4

 

Result ID Test Result Name Result LOINC Value
31946 ALA Dehydratase 2813-4
31948 Interpretation 59462-2
BG573 Total Cell Suspension In Process
BG574 Packed Cell Volume In Process

Clinical Information

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 contact Mayo Medical Laboratories to discuss testing strategies.

Interpretation

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, and a phone number to reach a laboratory director in case the referring physician has additional questions.

Clinical Reference

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. Philadelphia, 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 Valle D, Beaudet AL, Vogelstein B, et al. New York, McGraw-Hill, 2014. Available at http://ommbid.mhmedical.com/content.aspx?bookid=971&Sectionid=62638866 Accessed August 9, 2017

Analytic Time

2 days (not reported on Saturday or Sunday)

Method Name

Enzymatic End point/Spectrofluorometric

Forms

New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical