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Paediatric Laboratory Medicine

Genome Diagnostics

Note that temporarily, the turnaround time for routine analysis is up to an additional 10 weeks.

22q11.2 Deletion Syndrome

Angelman Syndrome: Methylation and Copy Number Analysis

Angelman Syndrome: UPD 15 Analysis

Arrhythmogenic Right Ventricular Cardiomyopathy Panel: Sequencing

Ashkenazi Jewish Screening Panel

Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis Panel: Sequencing

Autoinflammatory Disease: Comprehensive Panel

Autoinflammatory Disease: Deletion & Duplication Analysis

Autoinflammatory Disease: Familial Variant

Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel

Autoinflammatory Disease: Recurrent Fever Syndrome

Becker Muscular Dystrophy: DMD Deletion/Duplication Analysis

Becker Muscular Dystrophy: DMD Sequencing

Beckwith-Wiedemann Syndrome: CDKN1C Sequencing

Beckwith-Wiedemann Syndrome: Methylation and Copy Number Analysis

Beckwith-Wiedemann syndrome: UPD11 Analysis

Bloom Syndrome: BLM Recurrent Mutations

Bone Marrow Transplant Monitoring

Branchio-Oto-Renal Syndrome: EYA1 Deletion/Duplication Analysis

Branchio-Oto-Renal Syndrome: EYA1 Sequencing

Caffey Disease: COL1A1 Recurrent Mutation

Canavan Disease: ASPA Recurrent Mutations

Cancer Related Testing: Li-Fraumeni Syndrome - TP53 Deletion/Duplication Analysis

Cancer Related Testing: Li-Fraumeni Syndrome - TP53 Sequencing

Cancer Related Testing: Rhabdoid Tumour Predisposition Syndrome - SMARCB1 Deletion/Duplication Analysis

Cancer Related Testing: Rhabdoid Tumour Predisposition Syndrome - SMARCB1 Sequencing

CHARGE Syndrome: CHD7 Deletion/Duplication Analysis

CHARGE Syndrome: CHD7 Sequencing

Cherubism: SH3BP2 Recurrent Mutation

Cherubism: SH3BP2 Sequencing

Congenital Muscular Dystrophies Panel: Sequencing

Connective Tissue Disease: Bone Involvement

Connective Tissue Disease: Deletion & Duplication Analysis

Connective Tissue Disease: Ehlers-Danlos Syndrome Panel

Connective Tissue Disease: Osteogenesis Imperfecta Panel

Connective Tissue Disease: Osteopetrosis and disorders of increased bone density panel

Connective Tissue Disorder: Familial Variant

Craniosynostosis: Apert Syndrome

Craniosynostosis: Crouzon Syndrome

Craniosynostosis: Non-Syndromic

Craniosynostosis: Pfeiffer Syndrome

Craniosynostosis: Saethre-Chotzen Syndrome

Cystic Fibrosis: CFTR Deletion/Duplication Analysis

Cystic Fibrosis: CFTR Recurrent Mutations

Cystic Fibrosis: CFTR Sequencing

DNA/RNA Banking

Dopamine Beta-Hydroxylase Deficiency: DBH Sequencing

Duchenne Muscular Dystrophy: DMD Deletion/Duplication Analysis

Duchenne Muscular Dystrophy: DMD mRNA Analysis

Duchenne Muscular Dystrophy: DMD Sequencing

Fabry Disease: GLA Deletion/Duplication Analysis

Fabry Disease: GLA mRNA Analysis

Fabry Disease: GLA Sequencing

Familial Dysautonomia: IBKAP Recurrent Mutations

Familial Variant Analysis

Fanconi Anemia Group C: FANCC Recurrent Mutations

Focal Segmental Glomerulosclerosis Panel: Sequencing

Fragile X E Syndrome: FMR2 Trinucleotide Repeat Analysis

Fragile X Syndrome: FMR1 Trinucleotide Repeat Analysis

Gaucher Disease: GBA Recurrent Mutations

Hearing Loss: Aminoglycoside-Induced Mitochondrial Deafness

Hearing Loss - Non-Syndromic, Autosomal Recessive: GJB2 Sequencing

Hearing Loss - Non-Syndromic, Autosomal Recessive: GJB6 Deletion/Duplication Analysis

Hearing Loss - Non-Syndromic, X-Linked: POU3F4 Deletion/Duplication Analysis

Hearing Loss - Non-Syndromic, X-Linked: POU3F4 Sequencing

Hearing Loss - Pendred Syndrome: SLC26A4 Deletion/Duplication Analysis

Hearing Loss - Pendred Syndrome: SLC26A4 Sequencing

Hereditary Hearing Loss: Common and Non-Syndromic Hearing Loss Panel

Hereditary Hearing Loss: Deletion & Duplication Analysis

Hereditary Hearing Loss: Familial Variant

Hereditary Hearing Loss: Stickler Syndrome

Hereditary Hearing loss: Syndromic Hearing Loss - Treacher Collins syndrome, Waardenburg syndrome, Norrie syndrome, Alport syndrome

Hereditary Hearing Loss: Usher Syndrome

Hereditary Hemorrhagic Telangiectasia: ACVRL1 Sequencing

Hereditary Hemorrhagic Telangiectasia: ENG and ACVRL1 Deletion/Duplication Analysis

Hereditary Hemorrhagic Telangiectasia: ENG Sequencing

Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing

Hereditary Spastic Paraplegia: Autosomal Dominant

Hereditary Spastic Paraplegia: Autosomal Recessive

Hereditary Spastic Paraplegia: Comprehensive Testing

Hereditary Spastic Paraplegia: Deletion & Duplication Analysis

Hereditary Spastic Paraplegia: Familial Mutation

Hereditary Spastic Paraplegia: X-Linked

Hunter Syndrome: IDS Deletion/Duplication Analysis

Hunter Syndrome: IDS mRNA Analysis

Hunter Syndrome: IDS Sequencing

Identity Testing: Maternal Cell Contamination Studies

Identity Testing: Tissue Matching

Identity Testing: Zygosity Studies

Mucolipidosis Type 4: MCOLN1 Recurrent Mutations

Neurofibromatosis Type 1/Legius Syndrome

Neurofibromatosis Type 1/Legius Syndrome: Deletion & Duplication Analysis

Neurofibromatosis Type 1/Legius Syndrome: Familial Variant

Neuronal Ceroid Lipofuscinoses: Recurrent Mutations

Neuronal Ceroid Lipofuscinoses Panel: Sequencing

Niemann Pick Disease Type A and B: SMPD1 Recurrent Mutations

Noonan and RASopathies: Familial Variant

Noonan Syndrome and RASopathies

Noonan Syndrome and RASopathies: Deletion and Duplication Analysis

Prader-Willi Syndrome: Methylation and Copy Number Analysis

Prader-Willi Syndrome: UPD15 Analysis

Prenatal Testing

Russel Silver Syndrome: Methylation and Copy Number Analysis

Russel Silver Syndrome: UPD7 Analysis

Shwachman-Diamond Syndrome: SBDS Sequencing

Simpson-Golabi-Behmel Syndrome: GPC3 and GPC4 Deletion/Duplication Analysis

Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing

Skeletal Dysplasias: Achondroplasia

Skeletal Dysplasias: Hypochondroplasia

Skeletal Dysplasias: Thanatophoric Dysplasia

Spinal and Bulbar Muscular Atrophy: AR Trinucleotide Repeat Analysis

Spinal Muscular Atrophy: SMN1 and SMN2 Deletion/Duplication Analysis

Tay-Sachs Disease: HEXA Recurrent Mutations

Tay-Sachs Disease: HEXA Sequencing

Trismus-Pseudocamptodactyly Syndrome: MYH8 Sequencing

X Inactivation Analysis