Molecular Genetics and Genomics Laboratory Service

Molecular genetics and genomics is a rapidly growing field in which information about alterations in one’s genome is used to diagnose, prevent and/or treat diseases. The laboratory just completed a major reorganization of the available space to meet the molecular genetics workflow requirements and is engaged in a comprehensive modernization of essential equipments that will allow the laboratory to offer services that begin to address clinician’s and patient’s needs in that specialty area.

It is anticipated that by the end of 2014, a basic menu of diagnostic tests will be available in support of the Genetic and Developmental Clinic, other specialty clinics within SQUH and beyond. At term, the laboratory will provide comprehensive molecular diagnostic services, including teaching and research in line with SQUH’s stated mission. The diseases for which molecular testing is currently available on a clinical basis are listed in the table below.


Translational Genetics and Genomics Section

In support of the activities of the Molecular Genetic s and Genomics Laboratory, the translational section is specifically mandated to:

1) Ensure that scientific discoveries and innovations in the area of genetics and genomics medicine are applied to improve service delivery and patient care;
2) Encourage clinicians and investigators with an interest in genetics and medical genomics to share their discoveries and contribute to the activities of this section;
3) Communicate to the clinical community progress and results originating from this section.

The section is actively developing molecular testing services in the following clinical areas: metabolism, dermatology and neurological/neurodevelopmental disorders. The diseases for which molecular testing is currently under development are listed in the table below.

Mutation List

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Disorder [OMIM]Sorted By Disorder [OMIM] In Ascending OrderGene SymbolTestingAvailabilityReference
Achromatopsia 3 [262300]CNGB3Target MutationClinical basisUnpublished
Alopecia universalis [203655]HRTarget MutationClinical basisHum. Molec. Genet. 7: 1671-1679, 1998.
AR Distal Hereditary Motor Neuropathy [601978]SIGMAR1Target MutationClinical basisUnpublished
Autosomal Recessive Polycystic Kidney Disease [263200]PKHD1Panel of MutationsClinical basisUnpublished
Brown-Vialetto-Van Laere Syndrome [211530]SLC52A3Target MutationClinical basisUnpublished
Chacot-Marie-Tooth Type 4B1 [601382]MTMR2Target MutationClinical basisOman Medical Journal, 2016, Vol.31 (3), pp.227-230
Choreoathetosis/Seizures/ID DisorderPRRT2Target MutationClinical basisUnpublished
Congenital Myasthenic Syndrome [608931]CHRNETarget MutationClinical basisUnpublished
Cystic Fibrosis - Atypical [219700]CFTRTarget MutationClinical basisJ. Mol. Biomark. Diag. 2014 5:2
Cystic Fibrosis - Classical [219700]CFTRPanel of MutationsClinical basisJ. Mol. Biomark. Diag. 2014 5:2; Clin Genet. 2000 Mar;57(3):235-6.
Deafness, autosomal recessive 3 [602666]MYO15ATarget MutationClinical basisJ Hum Genet. 2016 Oct 13.
Epidermolysis bullosa [226600]COL7A1Target MutationClinical basisUnpublished
Epilepsy, Progressive Myoclonic 3, with or without Intracellular Inclusions [ 611726 ]KCTD7Target MutationClinical basisUnpublished
Epilepsy, progressive myoclonus (Lafora) [254780]NHLRC1Target MutationClinical basisJ Child Neurol 2008 23: 240-242.
Fragile X Syndrome [300624]FMR1Triplet Repeat ExpansionClinical basisN Engl J Med 1991; 325:1673–1681.
Fragile X tremor/ataxia syndrome [300623]FMR1Triplet Repeat ExpansionClinical basisJ Med Genet. 2006;43:804–809.
Hypothyroidism [274500]TPOTarget MutationClinical basisUnpublished
Isovaleric Acidemia [243500]IVDPanel of MutationsClinical basisUnpublished
Isovaleric Acidemia [243500]IVDFull Gene SequencingInvestigational basisUnpublished
Lamellar Ichthyosis [242300]TGM1Panel of MutationsClinical basisMed Princ Pract. 2013;22(5):438-443.
Maple Syrup Urine Disorder [248600]MSUD Multigene PanelFull Gene SequencingInvestigational BasisUnpublished
Maple Syrup Urine Disorder, type Ia [248600]BCKDHAPanel of MutationsClinical basisUnpublished
Maple Syrup Urine Disorder, type Ib [248600]BCKDHBPanel of MutationsClinical basisUnpublished
Maple Syrup Urine Disorder, type II [248600]DBTPanel of MutationsClinical basisUnpublished
Mulibrey Nanism [253250]TRIM37Target MutationClinical basisUnpublished
Muscular dystrophy, limb-girdle, type 2B [253601]DYSFPanel of MutationsClinical basisUnpublished
Neurodegeneration with Brain Iron Accumulation 2B [610217]PLA2G6Target MutationClincial basisUnpublished
Neuronal Ceroid Lipofuscinosis-5 [256731]CLN5Target MutationClinical basisUnpublished
Non-Immunologic Hydrops FetalisAARS2Target MutationClinical basisUnpublished
Periodic fever, familial [191190]TNFRSF1ATarget MutationClinical basisUnpublished
Premature ovarian failure [311360]FMR1Triplet Repeat ExpansionClinical basisSemin Reprod Med. 2011;29:299–307.
Primary Hyperoxaluria Type I [604285]AGXTTarget MutationClincial basisUnpublished
Sanjad-Sakati Syndrome [241410]TBCETarget MutationClinical basisNature Genet. 32: 448-452, 2002.
SOFT Syndrome [614813]POC1ATarget MutationClinical basisUnpublished
Spastic Ataxia of the Charlevoix-Saguenay Type [270550]SACSTarget MutationClinical basisUnpublished
Spinal Muscular Atrophy [253300]SMN1Deletion AnalysisClinical basisCell. 1995;80:155–65.
Sulfite Oxidase Deficiency [606887]SUOXTarget MutationClinical basisUnpublished
Wilson Disease [277900]ATP7BTarget MutationClinical basisSQU Med J. 2011 Aug;11(3):357-62.
Y Chromosome InfertilityAZFDeletion AnalysisInvestigational basisAndrology. 2014 Jan;2(1):5-19.

Mutation confirmation

We will consider developing an assay for the verification/confirmation of the presence of DNA variants in patients identified on a research basis or through a reference lab abroad. In addition, we will consider developing an assay should you have patients for whom molecular genetic testing could be of benefit.