Progranulin Gene (GRN), Full Gene Analysis (Sendout)

General Information

Lab Name
Lab Code
487
External Test Id
CGPH
Description

Useful For:

  • Aiding the diagnosis of frontotemporal dementia

  • Distinguishing frontotemporal dementia from other dementias, including Alzheimer dementia

  • Identifying individuals who are at increased risk of frontotemporal dementia

Ordering Requirements:

Synonyms
CGPH, Fronto Temporal Dementia, Frontotemporal Dementia, Frontotemporal Lobar Degeneration, FTD, FTLD, granulin, GRN Gene, GRNZ
Components

Interpretation

Method

Sequence Capture and Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR), Sanger
Sequencing or Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reference Range
Interferences and Limitations

Cautions:

Some individuals who are carriers or have a diagnosis of frontotemporal dementia may have a mutation that is not identified by this method (eg, large genomic deletions, promoter mutations). Mutations in other genes have also been implicated in frontotemporal dementia. Abnormalities in other genes are not detected by this assay. The absence of a mutation(s), therefore, does not eliminate the possibility of positive carrier status or the diagnosis of frontotemporal dementia. For carrier testing, it is important to first document the presence of a GRN gene mutation in an affected family member.

In some cases, DNA alterations of undetermined significance may be identified.

Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

Test results should be interpreted in the context of clinical findings, family history and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

A previous bone marrow transplant from an allogenic donor will interfere with testing.
Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Ordering & Collection

Specimen Type
Blood
Collection

5 mL blood in LAVENDER TOP (EDTA) tube

Forms & Requisitions
Handling Instructions

Outside Laboratories:

  • Store and transport whole blood at ambient temperature.
  • All orders must be accompanied by a completed Mayo Molecular Genetics Hereditary Custom Gene Panel Patient Information form.
  • Expedite transport. Specimen must be received at Mayo Clinic Labs within 96 hours of collection (allow for transport time from UW-MT lab to Mayo).

Stability: Ambient (preferred): 96 hours; Refrigerated: 96 hours; Frozen: Unacceptable.

Quantity
Requested: 5 mL EDTA whole blood
Minimum: 3 mL EDTA whole blood

Processing

Receiving Instructions

Store and transport whole blood at ambient temperature. Refrigerated samples are also acceptable.

Login: GSEND1-;ROOM TEMP

  • GSNDT1: MAYO
  • GSTYP1: WB
  • GTSRQ1: ;Progranulin Gene (GRN), Full Gene Analysis (Mayo Test CGPH)

Sendouts:

  • Order Mayo Test: CGPH.
  • Select Disease State: Inborn Errors of Metabolism.
  • Select "Create your own single gene or custom multi-gene panel."
  • Specify Gene: GRN.
  • Select "Finalize gene list" to close the order.
  • Include the Mayo Hereditary Custom Gene Panel Patient Information Form with the sample.
  • Whole blood specimens must be received by Mayo within 96 hours of collection.

Stability: Ambient (preferred): 96 hours; Refrigerated: 96 hours; Frozen: Unacceptable.

Misc Sendout

Performance

Lab Department
Frequency
Performed: Varies. Report available: 4-5 weeks.
Available STAT?
No
Performing Location(s)
Sendout Mayo Clinic Laboratories
800-533-1710

200 First Street Southwest
Rochester, MN 55901

Billing & Coding

Billing Comments

CPTs: 81406, 81479