Test Catalog

Test Id : FQPPS

Porphyrins, Feces

Useful For
Suggests clinical disorders or settings where the test may be helpful

Evaluation of patients who present with signs or symptoms suggestive of porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, or X-linked dominant protoporphyria

Testing Algorithm
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

-Porphyria (Cutaneous) Testing Algorithm

Special Instructions
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

High-Performance Liquid Chromatography (HPLC)

Porphyrins are quantified by fluorescence.

NY State Available
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

Porphyrins, F

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

Congenital Erythropoietic Porphyria (CEP)

Coproporphyrins

Erythropoietic Protoporphyria (EPP)

Hereditary Coproporphyria (HCP)

Hexacarboxyl porphyrins

Porphyria Cutanea Tarda (PCT)

Porphyrin isomers

Protoporphyrin

Uroporphyrins

Variegate Porphyria (VP)

Isocoproporphyrin

X-linked Dominant Protoporphyria (XLDPP or XDP)

Testing Algorithm
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

-Porphyria (Cutaneous) Testing Algorithm

Specimen Type
Describes the specimen type validated for testing

Fecal

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Container/Tube: Stool container (T291)

Specimen Volume: Entire collection (48, 72, or 96 hour). 24-Hour collection is adequate if the collection volume is approximately 100 g.

Collection Instructions:

1. Patient should be instructed to refrain from red meat and aspirin-containing medications for 3 days prior to, as well as during, specimen collection. Compliance should be indicated.

2. No barium, laxatives, or enemas may be used within 24 hours of starting the collection.

Additional Information:

1. Length of collection period is required.

2. Specimens smaller than 100 g may not provide interpretable results.

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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

10 g

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

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
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
Fecal Frozen (preferred) 14 days
Refrigerated 14 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

Evaluation of patients who present with signs or symptoms suggestive of porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, or X-linked dominant protoporphyria

Testing Algorithm
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

-Porphyria (Cutaneous) Testing Algorithm

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Depending on the specific enzyme involved, various porphyrins and their precursors accumulate in different specimen types. The patterns of porphyrin accumulation in erythrocytes and plasma, and excretion of the heme precursors in urine and feces allow for the detection and differentiation of the porphyrias.

 

The porphyrias are typically classified as erythropoietic or hepatic based upon the primary site of the enzyme defect. In addition, hepatic porphyrias can be further classified as chronic or acute, based on their clinical presentation.

 

The primary acute hepatic porphyrias: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP), are associated with neurovisceral symptoms, which typically onset during puberty or later. Common symptoms include severe abdominal pain, peripheral neuropathy, and psychiatric symptoms. Crises may be precipitated by a broad range of medications (including barbiturates and sulfa drugs), alcohol, infection, starvation, heavy metals, and hormonal changes. Photosensitivity is not associated with AIP, but may be present in HCP and VP.

 

Cutaneous photosensitivity is associated with the chronic hepatic porphyrias: porphyria cutanea tarda (PCT) and the erythropoietic porphyrias; erythropoietic protoporphyria (EPP), X-linked dominant protoporphyria (XLDPP), and congenital erythropoietic porphyria (CEP). Although genetic in nature, environmental factors may exacerbate symptoms, significantly impacting the severity and course of disease.

 

CEP is an erythropoietic porphyria caused by uroporphyrinogen III synthase deficiency. Symptoms typically present in early infancy with red-brown staining of diapers, severe cutaneous photosensitivity with fluid-filled bullae and vesicles. Other common symptoms may include thickening of the skin, hypo- and hyperpigmentation, hypertrichosis, cutaneous scarring, and deformities of the fingers, eyelids, lips, nose, and ears. A few milder adult-onset cases have been documented as well as cases that are secondary to myeloid malignancies.

 

PCT is the most common form of porphyria and is most commonly sporadic (acquired), but in about 25% of cases it is inherited in an autosomal dominant manner. The most prominent clinical characteristics are cutaneous photosensitivity and scarring on sun-exposed surfaces. Patients experience chronic blistering lesions resulting from mild trauma to sun-exposed areas. These fluid-filled vesicles rupture easily, become crusted, and heal slowly. Secondary infections can cause areas of hypo- or hyperpigmentation or sclerodermatous changes and may result in the development of alopecia at sites of repeated skin damage. Liver disease is common in patients with PCT as evidenced by abnormal liver function tests and 30% to 40% of patients developing cirrhosis. In addition, there is an increased risk of hepatocellular carcinoma.

 

Hepatoerythropoietic porphyria (HEP) occurs when an individual inherits PCT from both parents. Patients exhibit a similar clinical presentation to what is seen in CEP.

 

Clinical presentation of EPP and XLDPP is identical with onset of symptoms typically occurring in childhood. Cutaneous photosensitivity in sun-exposed areas of the skin generally worsens in the spring and summer months. Common symptoms may include itching, edema, erythema, stinging or burning sensations, and occasionally scarring of the skin in sun-exposed areas.

 

Increased fecal porphyrin excretions are observed most commonly in symptomatic patients with CEP, PCT, HCP, and VP. In quiescent phases, as well as prior to puberty, fecal porphyrin excretion may be within normal limits. Patients with AIP may have elevated fecal porphyrin levels during severe attacks. EPP and XLDPP patients may have elevated protoporphyrin levels, however, these disorders cannot be diagnosed by fecal analysis alone.

 

The workup of patients with a suspected porphyria is most effective when following a stepwise approach. See Porphyria (Acute) Testing Algorithm and Porphyria (Cutaneous) 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.

UROPORPHYRIN I

<120 mcg/24 hours

 

UROPORPHYRIN III

<50 mcg/24 hours

 

HEPTACARBOXYL PORPHYRIN I

<40 mcg/24 hours

 

HEPTACARBOXYL PORPHYRIN III

<40 mcg/24 hours

 

ISOHEPTACARBOXYL PORPHYRINS

<30 mcg/24 hours

 

HEXACARBOXYL PORPHYRIN I

<10 mcg/24 hours

 

HEXACARBOXYL PORPHYRIN III

<10 mcg/24 hours

 

ISOHEXACARBOXYL PORPHYRINS

<10 mcg/24 hours

 

PENTACARBOXYL PORPHYRIN I

<20 mcg/24 hours

 

PENTACARBOXYL PORPHYRIN III

<20 mcg/24 hours

 

ISOPENTACARBOXYL PORPHYRINS

<80 mcg/24 hours

 

COPROPORPHYRIN I

<500 mcg/24 hours

 

COPROPORPHYRIN III

<400 mcg/24 hours

 

ISOCOPROPORPHYRIN

<200 mcg/24 hours

 

PROTOPORPHYRINS

<1,500 mcg/24 hours

 

COPROPORPHYRIN III/COPROPORPHYRIN I RATIO

<1.20

 

See The Heme Biosynthetic Pathway in Special Instructions.

Interpretation
Provides information to assist in interpretation of the test results

Abnormal results are reported with a detailed interpretation that may include an overview of the results and their significance, a correlation to available clinical information provided with the specimen, differential diagnosis, recommendations for additional testing when indicated and available, and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Heme from red meat can contribute to fecal protoporphyrin concentrations and cause a misleading indication of erythropoietic protoporphyria, X-linked dominant protoporphyria, or variegate porphyria.

 

Aspirin ingestion may cause minimal gastrointestinal bleeding, leading to false elevations of protoporphyrin.

 

Specimen submitted should contain at least 100 g of feces. Specimens smaller than 100 g may not provide interpretable results. Specimens weighing less than 10 grams will be rejected.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Tortorelli S, Kloke KM, Raymond KM: 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: X-Linked sideroblastic anemia and the porphyrias. In Disorders of Heme Biosynthesis. Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York: McGraw-Hill; 2014. Accessed June 27, 2016. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225540906&bookid=2709

Special Instructions
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

The porphyrins are separated according to numbers of carboxyl units and isomer status. Analytic specificity is based on the combination of chromatographic behavior and the uniqueness of the porphyrins among substances in human specimens in terms of fluorescence spectra. Components quantified are 10 specific porphyrins of isomer series I and III, 4 groups of "isoporphyrins" (isomers other than of series I and III), and protoporphyrin.(Unpublished Mayo method)

PDF Report
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.

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.

4 to 7 days

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

1 week

Performing Laboratory Location
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.

  • 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.

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.

84126

LOINC® Information

Test Id Test Order Name Order LOINC Value
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.
FQPPS Porphyrins, F 94548-5
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.
TM70 Collection Duration 13363-7
15517 Uroporphyrin I 26691-6
15518 Uroporphyrin III 33585-1
15519 Heptacarboxyl I 49900-4
15520 Heptacarboxyl III 49901-2
15521 Isoheptacarboxyl 94549-3
15522 Hexacarboxyl I 94550-1
15523 Hexacarboxyl III 94551-9
15524 Isohexacarboxyl 94552-7
15525 Pentacarboxyl I 33623-0
15526 Pentacarboxyl III 33624-8
15527 Isopentacarboxyl 94553-5
15528 Coproporphyrin I 23845-1
15529 Coproporphyrin III 23846-9
15530 Isocoproporphyrin 33625-5
15534 Protoporphyrin 2891-0
15545 CoproIII/CoproI ratio 33618-0
W6 Total weight 30078-0
81652 Interpretation (FQPPS) 59462-2
35013 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.

Excel | Create a PDF

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

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.

SI Normal Reports | SI Abnormal Reports