Test ID 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.

Secondary ID

617788

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.

Special Instructions

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
Varies	Varies

Clinical Information

Kruppel-like factor 1 (KLF1) is an essential erythroid transcription factor. Genetic alterations of the gene have been reported to have different phenotypic outcomes ranging from a persistent increase in fetal hemoglobin (HbF) to chronic nonspherocytic hemolytic anemia. Some KLF1 variants have been associated with increased HbF and a milder phenotype in patients with sickle cell disease. KLF1 variants have been categorized into four functional classes that affect the phenotype and inheritance pattern. Class 2 and 3 variants result in an autosomal recessive congenital microcytic hypochromic anemia, which can be associated with neonatal jaundice. Some KLF1 variants are associated with decreased pyruvate kinase enzyme activity. Type IV congenital dyserythropoietic anemia is associated with a commonly de novo autosomal dominant KLF1 E325K variant and is associated with a variable phenotype that ranges from hydrops fetalis, sex reversal/hypospadias, severe transfusion dependent anemia to a milder anemic course that resolves after infancy. Very small quantities of embryonic hemoglobins (Hb Portland or zeta chains) may be evident in sensitive hemoglobin studies.

Reference Values

An interpretive report will be provided

Cautions

Test results should be interpreted in context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete. Individuals may have a variant, deletion, or duplication in the gene tested that is not identifiable by the described testing methodology. Rare variants (polymorphisms) exist and could lead to false negative results. In addition, the phenotype observed in the individual tested here may be due to a variant in a gene not analyzed by this test. This assay will not detect deep intronic or large deletion-insertion (delins) sequence alterations.

Rare, undocumented variants (ie, polymorphisms) under the primers can cause polymerase chain reaction failure.

Patients who have received an allogenic blood transfusion within the preceding 6 weeks, or who have received an allogenic blood or marrow transplant can have inaccurate genetic test results due to presence of donor DNA.

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. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81479

Mayo Clinic Laboratories Extended Catalog

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