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Test Code KLF1 KLF1 Full Gene Sequencing, Varies


Necessary Information


The following information is required on patient information or test request form:

1. Clinical diagnosis

2. Pertinent clinical history (submit complete blood cell count and hemoglobin electrophoresis results and relevant clinical notes)

3. Date of collection

4. Specimen type, whole blood or extracted DNA



Specimen Required


Submit only 1 of the following specimens:

 

Preferred:

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD) or green top (heparin)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Label specimen as blood.

Specimen Stability Information: Ambient 14 days (preferred)/ Refrigerated 30 days

 

Acceptable:

Specimen Type: Extracted DNA from whole blood

Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of DNA

Specimen Volume: Entire specimen

Collection Instructions: Label specimen as extracted DNA from blood and provide indication of volume and concentration of the DNA

Specimen Stability Information: Frozen/Refrigerate/Ambient


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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Metabolic Hematology Patient Information (T810)

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

Useful For

Aiding in the diagnosis and carrier detection of KLF1 sequence alterations that are reported to be responsible for neonatal anemia or jaundice, hydrops fetalis, increased fetal hemoglobin and hemoglobin A2.

 

Assessing patients with sickle cell disease with unexpected phenotypes, individuals with unexplained decreased pyruvate kinase activity levels, or unexplained microcytic hypochromic complete blood cell count parameters.

Method Name

Polymerase Chain Reaction (PCR) Amplification followed by Sanger Sequencing

Reporting Name

KLF1 Full Gene Sequencing, V

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL
Extracted DNA: 50 mcL at 50 ng/mcL concentration

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided

Day(s) Performed

Monday through Friday

Report Available

28 to 42 days

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

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
KLF1 KLF1 Full Gene Sequencing, V 41103-3

 

Result ID Test Result Name Result LOINC Value
618219 Interpretation 69047-9
618220 Signing Pathologist 18771-6