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Test ID PCGP Porphyria Comprehensive Gene Panel, Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

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


Forms

1. 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)

-Informed Consent for Genetic Testing (Spanish) (T826)

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

Useful For

Follow up for abnormal biochemical results suggestive of porphyria

 

Establishing a molecular diagnosis for patients with porphyria

 

Identifying variants within genes known to be associated with porphyria, allowing for predictive testing of at-risk family members

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 11 genes associated with porphyria: ALAD, ALAS2, CLPX, CPOX, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS. See Targeted Genes and Methodology Details for Porphyria Comprehensive Gene Panel in Special Instructions and Method Description for additional details.

 

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for porphyria.

 

The biochemical testing approach for diagnosis of patients with a suspected porphyria is most effective when done in a thoughtful manner. For recommendations for first-tier biochemical testing, see Porphyria (Acute) Testing Algorithm and Porphyria (Cutaneous) Testing Algorithm in Special Instructions.

Disease States

  • Porphyria

Testing Algorithm

The following algorithms are available in Special Instructions:

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Porphyria Comprehensive Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Performing Laboratory

Mayo Clinic 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 US Food and Drug Administration.

CPT Code Information

81405

81406 x 2

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PCGP Porphyria Comprehensive Gene Panel In Process

 

Result ID Test Result Name Result LOINC Value
608680 Test Description 62364-5
608681 Specimen 31208-2
608682 Source 31208-2
608683 Result Summary 50397-9
608684 Result 82939-0
608685 Interpretation 69047-9
608686 Resources In Process
608687 Additional Information 48767-8
608688 Method 85069-3
608689 Genes Analyzed 48018-6
608690 Disclaimer 62364-5
608691 Released By 18771-6

NY State Approved

No

Day(s) Performed

Varies

Report Available

3 to 4 weeks