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Biochemical Genetics Referred-Out Testing

Referred out for testing

Source Varies, depending on test
Mnemonic

BGLBL or BGLNON, depending on test and sample requirements.

BGL Test Name field: enter the name of the test

Exception: Transferrin Isoelectric Focusing - see below

Note: If ordered on a non-Biochemical Genetics Laboratory requisition, contact the biochemical geneticist at 403-955-7380 to confirm test prior to sample collection.

Specimen Requirements

Varies, depending on test

Common referred out testing and sample requirements:

  • Transferrin Isoelectric Focusing (TIEF) - mnemonic TIEF; collect 1 x 4.5 mL red top only (not SST), aliquot, write "red top" on label, and send to DSC on ice. DSC: freeze specimen and do not allow to thaw.
  • Creatine/Guanidinoacetate - Urine only, minimum 1 mL
  • Acylglycines - Urine only, minimum 4 mL
  • Coenzyme Q10 Leukocytes, minimum 3 mL ACD whole blood.  TEST NAME ALERT: For Coenzyme Q10 tests ordered on non-Biochemical Genetics Laboratory requisitions, see the Referral Test Guide.
  • Galactitol, Quantitative - Urine only, minimum 2 mL
  • Hex4 - Urine only, minimum 1 mL
  • Neurotransmitters - CSF only, 4.5 mL total in five special collection containers
  • Oxysterols - Plasma only, minimum 0.3 mL EDTA
  • S-sulfocysteine - Urine only, minimum 2 mL
  • Trimethylamine - Urine only, minimum 1 mL. This sample should be collected as a first morning void in a patient on an unrestricted diet.
Specimen Handling
  • Transferrin Isoelectric Focusing (TIEF) – centrifuge, , aliquot, freeze  and send  to ACH
  • Creatine/Guanidinoacetate - aliquot, freeze and send to ACH
  • Acylglycines - aliquot, freeze and send to ACH
  • Coenzyme Q10 Leukocytes - DO NOT aliquot, send whole blood  at room temp to ACH
  • Galactitol, Quantitative - aliquot, freeze and send to ACH
  • Hex4 - aliquot, freeze and send to ACH
  • Neurotransmitters - send primary tubes on ice to ACH
  • Oxysterols – centrifuge, aliquot and send frozen to ACH
  • S-sulfocysteine - aliquot, freeze and send to ACH
  • Trimethylamine - aliquot, immediately freeze and send to ACH

These tests are sent by the ACH Biochemical Genetics Lab to other laboratories for testing.

Ordering physicians:

  • All referral tests require Genetic Resource Center (GRC) funding approval prior to specimen send out. Clearly indicate the requested test name, specimen required and any special specimen handling instructions on the ACH BGL requisition, as well as provide a copy of the completed referral lab requisition where the sample will be sent.
  • Contact the GRC (403-955-3097 or grc@albertahealthservices.ca) for any questions regarding funding, and submit completed GRC Request Forms (http://www.albertahealthservices.ca/lab/Page8667.aspx) for approval, by fax (403-955-7624) or email. The ACH Biochemical Genetics Lab (403-955-7379) can be contacted during regular business hours for any additional information.
  • Requests for testing on non-Albertan patients from physicians or laboratories originating outside of the province will not be accepted; the test will be cancelled and samples discarded.

CLS Staff:

  • Collect tests requested and forward to BGL who will contact ordering physician to obtain any necessary approvals.
  • Send a copy of the requisition with the specimen.
  • If sending an aliquot tube, mark the aliquot tube with the type of collection tube, e.g., "NaHep", "LiHep", "Red Top" or "urine".
  • Please contact the ACH Biochemical Genetics Lab (403-955-7379) for additional instructions if not provided.
Additional Information
Testing Location Referral lab
Testing Frequency
Alternate Name(s)
Reference Interval Provided on test report.