Sign in →

Test ID APPAN Acute Porphyria, Multi-Gene Panel

Useful For

Confirmation of acute porphyria for patients with clinical features of the disease

Method Name

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

Reporting Name

Acute Porphyria, Multi-Gene Panel

Specimen Type

Varies


Specimen Required


Specimen preferred to arrive within 96 hours of collection.

 

Submit only 1 of the following specimens:

 

Preferred:

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask      

Specimen Volume: 1 Full T-75 or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours

 

Specimen Type: Skin biopsy

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [T115]).

Specimen Volume: 4-mm punch     

Specimen Stability Information: Refrigerated (preferred)/Ambient

                                                                       

Acceptable:

Specimen Type: Blood spot

Container/Tube: Whatman Protein Saver 903 Paper

Specimen Volume: 5 blood spots

Collection Instructions:

1. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

2. Do not expose specimen to heat or direct sunlight.

3. Do not stack wet specimens.

4. Keep specimen dry.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly, varies

Performing Laboratory

Mayo Medical Laboratories in Rochester

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

81405 CPOX

81406 HMBS

81406 PPOX

 

88233 (if appropriate)

88240 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
APPAN Acute Porphyria, Multi-Gene Panel In Process

 

Result ID Test Result Name Result LOINC Value
53793 Result Summary 50397-9
52574 Result In Process
52575 Interpretation In Process
52576 Additional Information 48767-8
52577 Specimen 31208-2
52578 Source 31208-2
52580 Released By No LOINC Needed

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.

Specimen Minimum Volume

Blood: 1 mL/Blood Spots: 3

Forms

1. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions

2. 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.