Carrier Status (49)

Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN)
Alpha-1 Antitrypsin Deficiency
Autosomal Recessive Polycystic Kidney Disease
BRCA Cancer Mutations (Selected)
Beta Thalassemia
Bloom’s Syndrome
Canavan Disease
Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)
Connexin 26-Related Sensorineural Hearing Loss
Cystic Fibrosis
D-Bifunctional Protein Deficiency
DPD Deficiency
Dihydrolipoamide Dehydrogenase Deficiency
Factor XI Deficiency
Familial Dysautonomia
Familial Hypercholesterolemia Type B
Familial Hyperinsulinism (ABCC8-related)
Familial Mediterranean Fever
Fanconi Anemia (FANCC-related)
G6PD Deficiency
GRACILE Syndrome
Gaucher Disease
Glycogen Storage Disease Type 1a
Glycogen Storage Disease Type 1b
Hemochromatosis (HFE-related)
Hereditary Fructose Intolerance
Hypertrophic Cardiomyopathy (MYBPC3 25bp-deletion)
LAMB3-related Junctional Epidermolysis Bullosa
Leigh Syndrome, French Canadian Type (LSFC)
Limb-girdle Muscular Dystrophy
Maple Syrup Urine Disease Type 1B
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Mucolipidosis IV
Neuronal Ceroid Lipofuscinosis (CLN5-related)
Neuronal Ceroid Lipofuscinosis (PPT1-related)
Niemann-Pick Disease Type A
Nijmegen Breakage Syndrome
Pendred Syndrome
Primary Hyperoxaluria Type 2 (PH2)
Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1)
Salla Disease
Sickle Cell Anaemia & Malaria Resistance
TTR-Related Cardiac Amyloidosis
Tay-Sachs Disease
Torsion Dystonia
Tyrosinemia Type I
Zellweger Syndrome Spectrum

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