 Genetics

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A

• Abetalipoproteinaemia
• Acute intermittent porphyria
• Alpha-1 antitrypsin deficiency
• Alpha-thalassaemia
• Alport syndrome
• Assessment of ataxia
• Assessment of cardiomyopathy
• Atypical genitalia in neonates

B

• Beta-thalassaemia

C

• Charcot-Marie-Tooth disease
• Chronic granulomatous disease
• Common hereditary lysosomal storage diseases
• Complement deficiencies
• Congenital adrenal hyperplasia
• Cystic fibrosis

D

• DiGeorge syndrome
• Down's syndrome
• Dubin-Johnson syndrome

E

• Ehlers-Danlos syndrome

F

• Familial adenomatous polyposis syndromes
• Familial Mediterranean fever

G

• Gilbert syndrome
• Glucose-6-phosphate dehydrogenase deficiency

H

• Haemochromatosis
• Haemophilia
• Hereditary spherocytosis
• Huntington's disease

K

• Klinefelter syndrome

M

• Marfan syndrome
• Multiple endocrine neoplasia syndromes
• Muscular dystrophies

N

• Noonan syndrome

O

• Osteogenesis imperfecta

P

• Paroxysmal nocturnal haemoglobinuria
• Peutz-Jeghers syndrome
• Phenylketonuria
• Polycystic kidney disease
• Prader-Willi syndrome
• Pseudohypoparathyroidism

R

• Retinitis pigmentosa
• Rotor's syndrome

S

• Severe combined immunodeficiency
• Sickle cell anaemia

T

• Tuberous sclerosis complex
• Turner syndrome
• Type 1 neurofibromatosis
• Type I glycogen storage disease

V

• Von Willebrand disease

W

• Wilson's disease
• Wiskott-Aldrich syndrome

X

• Xeroderma pigmentosum