Alberta Precision Laboratories

--- Query Results ---

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:

Skeletal Dysplasias Panel (Synonyms: Achondroplasia, Hypochondroplasia, Thanatophoric Dysplasia, FGFR3)

Test Includes:

Gene: FGFR3

Ordering Alert:

Ordering is restricted to Clinical Genetics, Perinatology and Pediatrics

Collection Alert:

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

LABID (Connect Care):

LAB1794

Test Code:

CALGARY	MDLBL IN MDL TEST NAME PROMPT ENTER NAME OF THE TEST OR STORE SAMPLE
EDMONTON	MDG-; APPEND TEST NAME AND SPECIMEN TYPE
OTHERS	NOT SPECIFIED

Specimen Type:

Blood, Swab, Tissue, DNA, Amniotic Fluid, Pleural Fluid, 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 Neonates: 1 EDTA containing a minimum of 0.5 mL of blood

For Postnatal (cord blood)

A maternal blood sample must be collected for maternal cell contamination studies.

For Prenatal Specimens (chorionic villi or amniotic fluid)

For Chorionic Villi specimens: 15 mg
For Amniotic Fluid specimens: 25 mL
Submit in a sterile polypropylene centrifuge tube or in a plain sterile tube with screw cap.
A maternal blood sample must be collected for maternal cell contamination studies.

For Other Tissue Specimens

For Fresh or Frozen Tissue specimens: Submit a minimum of 20 mg in a sterile container with NO fixative.
For Cultured Cells: Confluent (overgrown) T25 flask (or equivalent) placed in transport media.

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:

Pre-test Counselling Information-Genetic and GenomicTesting

All requests MUST be submitted on:

Molecular Genetics 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.
Frozen: Frozen tissue specimens at -20^oC to -80^oC.

Processing:

Do not centrifuge or aliquot specimens.

Transportation:

Transport all specimen types (except frozen tissue) at room temperature.
Specimens must not freeze in transit.

Transport frozen tissue specimens with adequate amounts of dry ice to keep specimen frozen.
Specimens must not thaw in transport.

Specimens, should be received by the Molecular Genetics Laboratory:

Within 5 days of date of collection for Blood and Extracted DNA specimens.
Within 24 hours of date of collection for Amniotic Fluid, Chorionic Villi and Tissue specimen types.
And must include the original paper requisition and accompanying documentation

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

Method:

Targeted sequence analysis

Method and Interpretation of Results:

Sanger sequencing of exons 3, 5-9, 11-12, 14-15 and 18 in FGFR3. Designed to detect the following common pathogenic variants (NM_000142.4):
Achondroplasia

c.1138G>A (p.Gly380Arg)
c.1138G>C (p.Gly380Arg)

Hypochondroplasia

c.1620C>A (p.Asn540Lys)
c.1620C>G (p.Asn540Lys)

Thanatophoric dysplasia, type 1

c.742C>T (p.Arg248Cys)
c.746C>G (p.Ser249Cys)
c.1108G>T (p.Gly370Cys)
c.1111A>T (p.Ser371Cys)
c.1118A>G (p.Tyr373Cys)
c.1949A>T (p.Lys650Met)
c.2420G>T (p.Ter807LeuextTer101)
c.2419T>G (p.Ter807GlyextTer101)
c.2419T>C (p.Ter807ArgextTer101)
c.2419T>A (p.Ter807ArgextTer101)
c.2421A>T (p.Ter807CysextTer101)
c.2421A>C (p.Ter807CysextTer101)
c.2421A>G (p.Ter807TrpextTer101)

Thanatophoric dysplasia, type 2

c. 1948A>G (p.Lys650Glu)

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:

Alberta Children's Hospital

Additional Test Information:

To obtain buccal swab collection kits, contact:

Molecular Genetics South

403-955-3097

Contact Comments:

For additional information refer to Genetics and Genomics webpage or contact:
Molecular Genetics South: 403-955-7397 (phone), 403-955-7624 (fax)

Last Updated On:

Friday, May 8, 2020

Date of Last Review:

Aug 1 2022 12:00AM