RACP Divisional Written Exam · FRACP

Genetics for the written exam

Everything Physify has for Genetics: short lessons written to Australian guidance, exam-style questions with a worked explanation for each, and Bedside, our AI tutor, under every one. Try a question below, no sign-up.

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14courses
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56lessons
exam-style questions
273exam-style questions
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5figures in the lessons

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Genetics

A 2 month old boy has poor feeding, a weak cry and marked head lag. He has macroglossia and a liver edge 3 cm below the costal margin. ECG shows a short PR interval with giant QRS complexes, and echocardiography shows biventricular hypertrophy. Dried blood spot acid alpha-glucosidase is very low and GAA sequencing shows two pathogenic variants. Before enzyme replacement starts, which result most changes the treatment plan?

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What's covered

14 courses, each a set of lessons with a quiz after them. The bar shows how many questions each has. Open a course to see its lesson outline.

From the lessons

5 figures sit in the Genetics lessons: ECGs, diagrams, films and clinical images, each with what to look for. Here are 4. Tap one to enlarge it.

Muscle cross-section stained with Oil Red O: about half the fibres are packed with red droplets of varying size, the others are pale.
Lipid storage myopathy: Oil Red O shows neutral fat droplets crowding type 1 (oxidative) fibres, which depend most on long-chain fatty acid oxidation. Storage is most marked in multiple acyl-CoA dehydrogenase and primary carnitine deficiency, may be mild or absent in VLCAD deficiency and is usually absent in CPT2 deficiency, so the acylcarnitine profile and genetics, not the biopsy, make the diagnosis. Image: Sadeh and Dabby, Journal of Clinical Medicine 2026 (figure 6), CC BY 4.0, via PubMed Central; unaltered. Original. Tap the image to zoom.

From the lesson “VLCAD Deficiency: Genetics, Newborn Screening and Phenotypes” in Very Long-Chain Acyl-CoA Dehydrogenase deficiency

Both legs from mid-thigh to toes, lying on a sheet: the left leg is bulkier than the right, with a dark, raised, bumpy patch over the outer thigh and knee, and the left forefoot and toes are larger.
Klippel-Trenaunay syndrome of the left leg: the limb is bulkier, with a dark, raised vascular malformation over the thigh and knee and enlarged forefoot and toes; the right leg is normal. Image: Gautam N Vekariya and colleagues, Cureus 2024 (figure 2), CC BY 4.0, via PubMed Central; cropped. Original. Tap the image to zoom.

From the lesson “Klippel-Trenaunay: Phenotype and the Vascular Differential” in Klippel-Trenaunay Syndrome

Partial G-banded karyotype showing chromosome pairs 13 to 22 and two X chromosomes; arrows mark one chromosome 13 and one chromosome 19 that have exchanged material, with ideograms of chromosomes 13 and 19 at left.
A balanced reciprocal translocation, t(13;19), in a healthy mother: no material is lost, so a microarray is normal, yet her pregnancies are at risk of unbalanced segregation; only a karyotype shows it. Image: Abualnaja et al., Frontiers in Genetics 2026 (figure 2), CC BY 4.0, via PubMed Central; unaltered. Original. Tap the image to zoom.

From the lesson “Genetic Testing: Methods, Choosing the Test and Interpreting the Result” in Principles of Clinical Genetics and Genetic Testing

Two haematoxylin and eosin liver sections: at left, swollen pale hepatocytes with clear cytoplasm and crisp cell borders; at right, hepatocytes containing pale, glassy pink cytoplasmic inclusions.
Liver in glycogen storage disease: in type IX (left) hepatocytes are swollen and pale with stored glycogen, much like glycogenic hepatopathy; in type IV (right), abnormal amylopectin-like polyglucosan forms ground-glass inclusions that may resist diastase, the substrate behind the cirrhosis. Image: Soon and Torbenson, International Journal of Molecular Sciences 2023 (figure 5), CC BY 4.0, via PubMed Central; unaltered. Original. Tap the image to zoom.

From the lesson “Hepatic GSDs: Types 0, I, III, IV, VI and IX” in Glycogen Storage Diseases

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