Genetics and Molecular Pathology

Genetics and Molecular Pathology, GMP
SA Pathology (formally IMVS)
Department: Molecular Pathology
Frome Road
Adelaide, South Australia, Australia 5043
Phone: +61 8 82046447
Fax: +61 8 82045823
Email: andrew.dubowsky@sa.gov.au
Website: http://www.sapathology.sa.gov.au/wps/wcm/connect/SA+Pathology+Internet+Content+New/Content/Home
Affiliated with:
- SA Health, https://www.sahealth.sa.gov.au/wps/wcm/connect/Public+Content/SA+Health+Internet/

Submissions in ClinVar
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GTR Lab ID: 506043, Last updated:2021-01-07
Annual Review past due read more

Personnel

Director: Andrew Dubowsky, PhD, Lab Director
Phone: 61 8 8204 6447
Fax: 61 8 8204 5823
Email: andrew.dubowsky@sa.gov.au

Conditions and tests

34 conditions/phenotypes with 10 tests
Enter text to narrow down the list

Abortive cerebellar ataxia1 test
Aniridia 11 test
Anterior segment dysgenesis 31 test
Anterior segment dysgenesis 41 test
Anterior segment dysgenesis 61 test
Autosomal dominant keratitis1 test
Autosomal dominant optic atrophy classic form1 test
Avellino corneal dystrophy1 test
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 31 test
Cataract 401 test
Coloboma of optic nerve1 test
Congenital ocular coloboma1 test
Corneal dystrophy, lattice type 3A1 test
Epithelial basement membrane dystrophy1 test
Foveal hypoplasia 11 test
Glaucoma 1, open angle, A1 test
Glaucoma 3, primary infantile, B1 test
Glaucoma 3A1 test
Glaucoma, normal tension, susceptibility to1 test
Groenouw corneal dystrophy type I1 test
Hereditary hyperferritinemia with congenital cataracts1 test
Irido-corneo-trabecular dysgenesis1 test
Isolated microphthalmia 51 test
Isolated optic nerve hypoplasia1 test
L-ferritin deficiency1 test
Lattice corneal dystrophy Type I1 test
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Nance-Horan syndrome1 test
Nanophthalmos 21 test
Neuroferritinopathy1 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Reis-Bucklers' corneal dystrophy1 test
Thiel-Behnke corneal dystrophy1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Prenatal testing
Custom Sequence Analysis
DNA Banking
Maternal cell contamination study (MCC)
Mutation Confirmation
RNA Banking
Result interpretation

List of certifications/licenses

Certifications

National Association of Testing Authorities, Australia, Number: 2348, Expiration date: 2016-12-31

Participation in external programs

Standardization programs

Mutation-specific Databases
Other

Data exchange Programs

Locus-specific Databases
Mutation-specific Databases

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