Genetic and metabolic test selection

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Target exams

Red flags

• A critically ill infant in the NICU with a suspected monogenic disorder sent for a conventional karyotype or sequential single-gene tests instead of rapid trio whole-genome sequencing — the diagnostic odyssey costs days of intensive-care and changes in management are missed in the window they could act on
• A newborn bloodspot screen collected before 48 hours of life, or after a blood transfusion, or from a heel-prick that was squeezed into the card — false positives, false negatives and unactionable results follow from a badly taken spot
• A child with global developmental delay sent for a chromosomal microarray after it has already come back normal, with no escalation to whole-exome sequencing — microarray finds copy-number variants, not the single-nucleotide variants that cause most Mendelian disease
• A metabolic panel sent on a child who is well and fed rather than in the decompensating window — amino acids, organic acids and acylcarnitines normalise between episodes, and the falsely reassuring panel closes the diagnostic door
• A trio exome requested without both parents' blood — trio sequencing roughly doubles the diagnostic yield of proband-only testing by separating inherited benign variants from de novo candidates, and losing it halves the chance of an answer
• An incidental actionable secondary finding returned without pre-test consent and without a cascade-testing plan — a pathogenic BRCA1 or Lynch syndrome variant is a family finding, not a child's finding, and mishandling it causes harm

Life stages

Care settings

Clinical exam formats

Board mappings

• Investigations and procedures: principles of requesting genetic and metabolic tests
• Recognise the indications for chromosomal microarray, exome and genome sequencing in a child
• Apply the principles of newborn bloodspot screening and the action required for an abnormal result
• Current 2026 PREP curriculum — Learning goal 11: Investigations and procedures
• Renewed curriculum for first-year trainees from 2027 — Learning goal 11: Investigations and procedures
• Justified, family-aware selection of microarray versus exome versus genome sequencing, and interpretation of a negative, VUS or incidental finding
• Written Examination
• Clinical Applications
• Genetics, metabolic medicine and newborn screening test selection
• Short Cases
• Communication scenarios — taking consent for exome sequencing and managing an incidental finding
• Patient-safety scenarios — the abnormal newborn bloodspot screen and the diagnostic odyssey
• 11. Investigating and managing paediatric presentations
• Level 2: Requests genetic and metabolic investigations with appropriate justification and interpretation
• Patient safety: acts correctly on an abnormal newborn bloodspot screen and an incidental genomic finding
• Applied Knowledge in Practice (AKP)
• Foundations of Practice (FOP)
• Principles of newborn screening, microarray, exome and metabolic test selection
• Clinical
• Communication scenarios — counselling for genomic testing
• Safe requesting and interpretation of investigations
• General Pediatrics Content Outline — Genetics, dysmorphology and metabolic medicine
• General Pediatrics Content Outline — Neonatal care and newborn screening
• General Pediatrics EPA: Request and interpret genetic and metabolic investigations
• Patient Care 3: Procedural skills and investigation selection
• Medical Knowledge 1: Clinical knowledge
• Systems-Based Practice: cost-conscious and appropriate genomic and metabolic test selection
• Medical Expert
• Communicator
• Pediatrics: request and interpret genetic and metabolic investigations with appropriate justification