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Test Code FQPPS Porphyrins, Feces

Important Note

This can be done on a Random specimen in needed. We need to send a minimum of 10 mL of stool. However please note: Specimens smaller than 100 g may not provide interpretable results.

Reporting Name

Porphyrins, F

Useful For

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

The following algorithms are available:

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Fecal


Necessary Information


1. Weight of the non-homogenized sample

2. Collection duration

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

4. Indicate if patient was compliant with the patient preparation requirements.



Specimen Required


Patient Preparation:

1. For 3 days before collection and during the entire specimen collection period, patient must refrain from eating red meat and or taking any aspirin-containing medications.

2. Patient should not use barium, laxatives, or enemas for 24 hours before starting, as well as during, specimen collection.

Collection Container/Tube: Stool Containers - 24, 48, 72 Hour Kit (T291). No preservative.

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

Collection Instructions:

1. Collect all stool specimens within a 24, 48, 72, or 96 hour timeframe.

2. Do not add preservative.

3. Send entire collection.

Additional Information:

1. Length of collection period is required.

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

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


Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Fecal Frozen (preferred) 14 days
  Refrigerated  14 days

Reference Values

UroporphyrinI:

<120 mcg/24 h

 

Uroporphyrin III:

<50 mcg/24 h

 

Heptacarboxyl porphyrin I:

<40 mcg/24 h

 

Heptacarboxyl porphyrin III:

<40 mcg/24 hours

 

Isoheptacarboxyl porphyrins:

<30 mcg/24 h

 

Hexacarboxnyl porphyrin:

<10 mcg/24 h

 

Hexacarboxnyl porphyrin III:

<10 mcg/24 h

 

Isohexacarboxnyl porphyrins :

<10 mcg/24 h

 

Pentacarboxyl porphyrin I:

<20 mcg/24 hours

 

Pentacarboxyl porphyrin II:

<20 mcg/24 h

 

Isopentacarboxyl porphyrins:

<80 mcg/24 hours

 

Coproporphyrin I:

<500 mcg/24 h

 

Coproporphyrin III:

<400 mcg/24 h

 

Isocoproporphyrin:

<200 mcg/24 h

 

Protoporphyrins:

<1,500 mcg/24 h

 

Coproporphyrin III/Coproporphyrin I RATIO:

<1.20

 

See The Heme Biosynthetic Pathway

Day(s) Performed

Tuesday, Thursday

Test 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

84126

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FQPPS Porphyrins, F 94548-5

 

Result ID Test Result Name Result LOINC Value
W6 Total weight 30078-0
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
81652 Interpretation (FQPPS) 59462-2
35013 Reviewed By 18771-6

Interpretation

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.

Clinical Reference

1. Tortorelli S, Kloke K, Raymond K: Disorders of porphyrin metabolism. In: Dietzen DJ, Bennett MJ, Wong EDD, eds. Biochemical and Molecular Basis of Pediatric Disease. 4th ed. AACC Press; 2010:307-324

2. Nuttall KL, Klee GG: Analytes of hemoglobin metabolism-porphyrins, iron, and bilirubin. In: Burtis CA, Ashwood ER, eds. Tietz Textbook of Clinical Chemistry. 5th ed. WB Saunders Company; 2001:584-607

3. Anderson KE, Sassa S, Bishop DF, Desnick RJ: Disorders of heme biosynthesis: X-Linked sideroblastic anemia and the porphyrias. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed September 6, 2024. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225540906&bookid=2709

4. Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations. Mol Genet Metab. 2019 Nov;128(3):363-366. doi:10.1016/j.ymgme.2018.11.013

Report Available

3 to 7 days

Method Name

High-Performance Liquid Chromatography (HPLC)