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Paediatric Laboratory Medicine

C

Caffeine

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

Cannabinoid Metabolite (U)

Carbamazepine

Carbamazepine 10,11-Epoxide

Carnitine, Free and Carnitine, Total Urine

Carnitine, Free and Total

Carotene, Blood

CDG Transferrin (Carbohydrate Deficient Transferrin) Serum

cGMP

CHARGE Syndrome: CHD7 Deletion/Duplication Analysis

CHARGE Syndrome: CHD7 Sequencing

Cherubism: SH3BP2 Recurrent Mutation

Cherubism: SH3BP2 Sequencing

Chlamydia trachomatis / Neisseria gonorrhoeae PCR

Chylomicrons in Fluids - ChyloThorax Investigation

Citrate Synthase

CMV qualitative PCR

CMV quantitative PCR

Complex I

Complex I+III

Complex II

Complex II+III

Complex IV

Complex V

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

Corticosterone, Blood

Cortisol, Blood

C-Peptide

Craniosynostosis: Apert Syndrome

Craniosynostosis: Crouzon Syndrome

Craniosynostosis: Non-Syndromic

Craniosynostosis: Pfeiffer Syndrome

Craniosynostosis: Saethre-Chotzen Syndrome

Creatine Disorders Panel (Urine)

Cyclosporine

Cystic Fibrosis: CFTR Deletion/Duplication Analysis

Cystic Fibrosis: CFTR Recurrent Mutations

Cystic Fibrosis: CFTR Sequencing