Table 3. Reasons for referrals by specialty.

Cancer	N
P/FHx history breast cancer	121
P/FHx polyposis/ colorectal cancer	26
P/FHx BRCA1/2 mutation	19
P/FHx ovarian cancer	14
P/FHx PTEN-hamartoma tumour syndrome	13
P/FHx known syndrome	13
ATM-cancer risk
Familial adenatomous polyposis
MUTYH-associated polyposis
Juvenile polyposis syndrome
Peutz–Jeghers syndrome
Li–Fraumeni syndrome
Hereditary paraganglioma
P/FHx cancer	11
Other	11
Ashkenazi Jewish ancestry
Barrett oesophagus
Carcinoid
Sebaceous carcinoma
Kidney cancer
Thyroid cancer
Lung cancer
Brain tumours
Rule out Von–Hippel–Lindau
P/FHx upper gastrointestinal cancer	8
P/FHx Lynch syndrome	6
P/FHx endometrial cancer	6
P/FHx pheocchromocytoma/paraganglioma	4
Cardiovascular
P/FHx HCM	17
P/FHx connective tissue disease	15
Other	15
Blue sclera
Bradycardia
Stickler syndrome
Diverticulosis
Wolf–Parkinson–White
Cardiac arrest
Mitral valve prolapse
Sudden cardiac death
Cardiovascular disease
ACTA2
Loeys–Dietz
Restrictive cardiomyopathy
Multiple anomies with cardiomyopathy and dilated aorta
P/FHx aortic aneurysm	13
P/FHx Marfan syndrome	11
P/FHx Ehlers–Danlos syndrome	9
P/FHx other aneurysm/dissection	9
P/FHx dilated cardiomyopathy	5
P/FHx long QT	3
P/FHx bicuspid aortic valve	3
P/FHx hereditary hemorrhagic telangiectasia	3
General
Other	37
Cleidocranial dysplasia
Rhabdomyolysis
Rule out Alport syndrome
Cerebral ventriculomegaly
Cerebral cavernous malformations
Right ventricular dilation, polyglandular autoimmune syndrome, neuropathy
Kidney tumours, CPAM
Speech delay and static encephalopathy
Choroid plexus carcinoma
Isolated lissencephaly sequence
Skin tag of ear
Common variable immune deficiency
Hemihypertrophy X 2
Nystagmus, variant in FRMD7
Multiple medical complaints
Fractures
Auditory processing disorder
Hemiplegic migraine
Tetralogy of Fallot
Failure to thrive
Familial hypercholesterolaemia X 2
Hirschsprung disease
Ear anomaly, asymmetric cry
MTHFR
Bilateral amelia of upper limbs
Fragile X testing
Pseudohypoparathyroidism
Macroglossia X 2
Spina bifida
Tricuspid valve atresia
Hypoplastic left heart
Abdominal pain, migraines, fatigue
Abnormal amino acids, neuro symptoms
Microcephaly, failure to thrive delays
P/FHx known syndrome	22
CDG-1A
Family history SBMA
Usher syndrome
Huntington disease X 3
Brown-Vialetto-vanLaere syndrome X 2
Osteogenesis imperfect
Mowat-Wilson syndrome
Beckwith–Wiedemann syndrome X 2
Diamond–Blackfan anaemia
DD/ID with or without other issues	13
Chromosomal	12
Down syndrome X 2
Klinefelter’s syndrome
12p deletion
Turner syndrome
22q11 deletion
Abnormal microarray
8;9 unbalanced translocation
17q21.31deletion
2q22.3q23.3 deletion
Marker chromosome 15
21q22.3 duplication
NF evaluation	9
WES	8
Hearing loss	6
Epilepsy	6
Multiple congenital anomalies	5
Autism	5
Rule out porphyria	4
Ataxia	3
Mito	3
Cleft lip/palate	3
Prenatal
Advanced maternal age	26
First trimester screening	20
Family history of syndrome/birth defect/other health issue	13
Hunter syndrome
Thalassaemia
Hydrocephaly
RET mutation/Hirschsprung
Asperger
Duchene muscular dystrophy
Intellectual disability
Multiple congenital anomalies
22q11.2 deletion syndrome
Down syndrome, ID, fetal alcohol syndrome
Hemophilia X 2
Simpson–Golabi–Behmel syndrome
Fetal anomaly(ies)	10
Heart defect X 3
Bilateral cleft lip
Ventriculomegaly
Severe hydrocephaly
Bilateral phocomelia, unilateral bowed femur
Pericardial effusion
Not otherwise specified X 2
Fetal chromosomal abnormality	8
Other	8
Balanced translocation carrier
Abnormal sequential screen
Increased nuchal translucency
Age related aneuploidy risk (non-AMA)
Egg donor
Possible thalassaemia
Infertility due to partner Y microdeletions
Abnormal Tay–Schas carrier results
Advanced maternal age plus other issues	5
Multiple miscarriages	2

Abbreviations: HCM, hypertrophic cardiomyopathy; P/FHx, personal/family history.