Welcome to The Molecular Genetics Laboratory
Please be advised that the Molecular Genetics Laboratory is in the process of moving to the Montreal Children's Hospital main building. As of April 20th, 2009 all samples and documentation should be delivered to the following address:
Molecular Genetics Laboratory
Montreal Children's Hospital
2300 Tupper Street
Room A7.16A
Montreal, Quebec, H3H 1P3
Note that our phone numbers and extensions remain the same: (514) 412-4400 ext. 23383 (Josee Warda) and 23298 (Civita Di Filippo), however our fax number is changing: 514-412-4297.
Sample reception at the new address is possible as of April 20th. Samples will NOT be processed during the week of April 20th to 24th due to equipment calibration and validation. There will be a slight increase in our turnaround time for the upcoming weeks while we resume normal services. We apologize for any inconvenience this delay may cause. If you have any questions or concerns, please do not hesitate to contact us.
Please see the attached revised requisition form.
The molecular genetics laboratory at the Montreal Childrens Hospital
is committed to developing state of the art DNA tests for genetic disease diagnostics
. In addition to performing routine DNA tests for genetic disease, we are
involved in the application of new technology for the development of novel and improved tests
for genetic diseases. For example,
the laboratory is moving towards faster multiplex-PCR and semi-automated,
fluorescent-based, DNA analysis along with dHPLC
technology for the rapid screening of genes for the detection of unknown mutations. The laboratory
also participates in the College of American Pathologists proficiency-testing
program in molecular diagnostics.
Reporting Results
Results are reported immediately upon completion of the test. Turnaround time is
generally 2-3 weeks for urgent requests and 6-8 weeks for non-urgent. Reports
may be faxed and /or mailed to the ordering physician.
Prenatal Diagnosis
Prenatal diagnosis is available for most tests.
Prenatal diagnosis requires amniotic fluid, amniocyte culture,
direct CVS, or CVS culture. A back-up culture should always be
maintained at the referring institution until results are obtained.
Testing begins when the Molecular Genetics Laboratory receives an
adequate sample. At that point, the turnaround time
is generally 3 to 5 days, depending on the assay. Blood samples
from parents are required to rule out maternal cell contamination.
Tests Available
- Angelman Syndrome
- Ashkenazi Jewish Panel
- ß-Thalassemia
- Clouston Syndrome
- Connexin 26-related deafness
- Cystic Fibrosis and CFTR-Related Disorders
- Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD Deficiency)
- Phenylalanine Hydroxylase Deficiency (Phenylketonuria, PKU)
- Prader-Willi Syndrome
- Severe Methylene Tetrahydrofolate Reductase Deficiency (MTHFR Deficiency)
- Sickle Cell Anemia (Hemoglobin S/C)
- Tay-Sachs Disease
- Y Chromosome Microdeletions
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