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Test Code PKLRG Pyruvate Kinase Liver and Red Blood Cell (PKLR), Full Gene Sequencing and Large Deletion Detection, Varies

Secondary ID

64564

Useful For

Aid in the diagnosis of pyruvate kinase (PK) deficiency

 

Ascertain a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity

 

Ascertain carrier status of family members of individuals diagnosed with PK deficiency for genetic counseling purposes

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis/Large Deletion Detection by PCR followed by fragment analysis

Reporting Name

PKLR Full Gene and Deletion

Specimen Type

Varies


Advisory Information


Preliminary screening tests, such as complete blood count with peripheral smear, direct Coombs test, and pyruvate kinase (PK) enzyme activity assays (preferably as a part of EEEVP / Red Blood Cell [RBC] Enzyme Evaluation) should be run before ordering this evaluation.



Necessary Information


1. PKLR Gene Sequencing Patient Information is required, see Special Instructions. Testing may proceed without the patient information however it aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to complete the form and send it with the specimen.

2. Include physician name and phone number with specimen.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Yellow top (ACD solution B) or Purple top (EDTA)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Refrigerated

 

Specimen Type: DNA

Container/Tube: 2 mL screw top tube

Specimen Volume: 100 microliters

Collection Instructions:

1. The preferred volume is 100 microliters at a concentration of 250 ng/mcL

2. Include concentration and volume on tube

Specimen Stability Information: Frozen preferred; Ambient/refrigerate acceptable


Specimen Minimum Volume

Whole blood: 0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

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

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Varies

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 U.S. Food and Drug Administration.

CPT Code Information

81405-PKLR

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PKLRG PKLR Full Gene and Deletion In Process

 

Result ID Test Result Name Result LOINC Value
37857 Result Summary 50397-9
48398 Result Details 82939-0
37858 Interpretation 69047-9
48397 Method 49549-9
48396 Disclaimer 62364-5
37860 Reviewed by 18771-6
91971 Additional Information 48767-8

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. PKLR Gene Sequencing Patient Information in Special Instructions

3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen.