Alberta Precision Laboratories

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Organization:

Alberta Precision Laboratories

Message Alert:

PLEASE NOTE: This Test Directory is in an interim state and due to changes pertaining to the DynaLIFE transition, performing site for routing has not been updated. Please refer to Laboratory Information System for appropriate routing.

Test Name/Synonym:

Hemochromatosis, HFE-related (Synonyms: HFE, C282Y, H63D, HH, Hemochromatosis, HFE-Related)

Test Includes:

Gene: HFE

Ordering Alert:

Hemochromatosis genotyping should only be performed on individuals with an elevated ferritin and fasting transferrin saturation greater than 45% (TSat) or a known family history of HFE-associated hereditary hemochromatosis.

Collection Alert:

Unopened dedicated tubes (do not share) are required for Molecular Genetics testing.

LABID (Connect Care):

LAB833

Test Code:

CALGARY ZONE	MDLBL; IN MDL TEST NAME PROMPT ENTER HFE OR STORE SAMPLE
CENTRAL ZONE	DNAM
EDMONTON ZONE	HC-; APPEND SPECIMEN TYPE
NORTH ZONE	DNAM
SOUTH ZONE	DNAM

Specimen Type:

Blood, Swab, DNA, Other

Specimen Source:

Indicate a specimen source.

Primary Container:

Lavender top EDTA

Alternate Containers:

Microcollection EDTA
Sterile polypropylene centrifuge tube
DNA tube
Sterile container

Minimum Collection Volume:

See Specimen Collection Requirements

Specimen Collection Requirements:

For Blood Specimen (peripheral or cord blood)
EDTA tubes should be completely full, 2/3 full at minimum, testing may be affected by partial draw

For Patients over 20 kg: 2 EDTA tubes each containing 3.0 mL of blood
For Patients up to 20 kg: 2 EDTA tubes each containing 2.0 mL of blood

For Extracted DNA

Submit 10ug @ >100ng/uL.

For Buccal Swab Specimens

Collect 4 buccal brushes.

For Pleural Fluid Specimen

Will attempt DNA extraction on any amount received
Submit in a sterile container with screw cap.

Test Resources:

HFE-Associated Hereditary Hemochromatosis Information

Pre-test Counselling Information-Genetic and GenomicTesting

Submit requests using requisition or Connect Care online order entry:

Molecular Genetics Laboratory General Requisition

Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.

Stability and Storage:

Room temperature: For all specimen types (except frozen tissue) if being shipped on same day of collection (preferred).
Refrigerated: If shipping is delayed.

Processing:

Do not centrifuge or aliquot specimens.

Transportation:

Transport all specimen types at room temperature.
Specimens must not freeze in transit.

Specimens, should be received by the Molecular Genetics Laboratory:

Within 5 days of date of collection
And must include the original paper requisition and accompanying documentation.

Submitting to Molecular Genetics North
Transport specimens (except extracted DNA) to Molecular Genetics Laboratory via UAH Specimen Control WMC 4B2.10.
For Extracted DNA samples only, transport specimens to Molecular Genetics Laboratory via UAH Shipping Receiving, UNIVERSITY OF ALBERTA HOSPITAL, 8440 112 STREET, Room: 8-26 MSB, EDMONTON, T6G 2B7

Blood, Buccal Swab, Pleural fluid and Extracted DNA specimens

Are received Mon – Fri: 07:30 to 15:00.
If received after 15:00, will be processed on the next working day.

Submitting to Molecular Genetics South
Transport specimens to Molecular Genetics Laboratory at Alberta Children’s Hospital Room B0-020.

Method:

Targeted Sequence Analysis

Method and Interpretation of Results:

Detects c.845G>A (p.Cys282Tyr) and c.187C>G (p.His63Asp).

Routine Turn Around Time:

Routine: 6 to 8 weeks, Stat: 1 to 2 weeks

Reference Interval:

Interpretation provided on report.

Testing Area:

Molecular Genetics

Performing Site:

University of Alberta or Alberta Children's Hospital

Additional Test Information:

To obtain buccal swab collection kits, contact:

Molecular Genetics North	Molecular Genetics South
780-407-1434	403-955-3097

Contact Comments:

For additional information refer to Genetics and Genomics webpage or contact:

Molecular Genetics North	Molecular Genetics South
780-407-1434 (phone) 780-407-1761 (fax)	403-955-3097 (phone) 403-955-7624 (fax)

Last Updated On:

Monday, August 29, 2022

Date of Last Review:

Aug 1 2022 12:00AM