For Health Professionals

Name of test

Reporting time codes

Allan Herndon Dudley syndrome (AHDS)

1, 2

Alzheimer disease (familial cases only)

6

Androgen insensitivity syndrome (AIS)

1, 2

Angelman syndrome (AS)

4, 5

Breast/Ovarian cancer (familial cases only)
Referrals only accepted from Clinical Genetics

1, 2, 6

Congenital adrenal hyperplasia (21-OH)

6

Cystic fibrosis (CF)
Delta F508 and 28 common mutations

2

Urgent newborn screening (IRT) 5 days Rare mutation screening by specific request

6

Donohue syndrome

1, 2

Dentatorubral-Pallidoluysian atrophy (DRPLA)

3

Duchenne/Becker muscular dystrophy
Extended mutation screening by specific request

3

Dystonia (DYT1)

6

Emery Dreifuss muscular dystrophy, (X-linked)

1, 2

Fabry disease

6

Facio-scapula-humeral muscular dystrophy

6

Familial dysalbuminaemic hyperthyroximaemia

R218H, R218P, L66P common albumin mutations:

2

Focal & segmental glomerulosclerosis (FSGS)

1, 2

Fragile X syndrome (FraX)
FRAX-E testing by specific request

3a

Friedreich ataxia (FRDA)
Rare mutation screening by specific request

3

Frontotemporal dementia with Parkinsonism

MAPT and PGRN genes

1, 2

Gaucher disease

6

Gitelman syndrome (GMS)

1, 2

Glucorticoid-remediable aldosteronism (GRA)

3

Gonadal dysgenesis (SRY gene)

1, 2

Haemochromatosis (HFE)
C282Y and H63D common mutations

2

Haemophilia A and B (Factor VIII & IX deficiency)

6

Hereditary fructose intolerance (HFI)

1, 2

Hereditary non-polyposis colon cancer (HNPCC)

1, 2

Hereditary motor & sensory neuropathy (HMSN/HNPP)
Deletion/duplication analysis (PMP22 gene only)
Extended mutation screening by specific request only

6

Huntington disease
Presymptomatic referral only accepted from Clinical Genetics

3

Incontinentia pigmenti (IP)

Common NEMO deletion

3

Liddle syndrome

1, 2

Medium-chain acyl CoA dehydrogenase deficiency
Common mutation K329E (p.K304E) only

2

Metachromatic leukodystrophy

6

Mitochondrial disorders MELAS, MERRF, LHON, NARP
Requires completed clinical information sheet

6

Multiple endocrine neoplasia Types 1 & 2
Requires completed clinical information sheet

6

Myotonic dystrophy (DM1)

3a

Neurofibromatosis type 2 (NF2)

6

Oculopharyneal muscular dystrophy (OPMD)

6

Prader-Willi syndrome (PWS)

4, 5

Polycystic kidney disease (PKD2)

1, 2

Rabson Mendenhall syndrome

1, 2

Renal tubular acidosis (dRTA)

1, 2

Retinoschisis, X-linked (RS1)

1, 2

Sensory neural hearing loss (SNHL)
Common mutations only (Connexin 26/30)

6

Spinal bulbar muscular atrophy (Kennedy disease)

3

Spinal muscular atrophy (SMA)

6

Spinocerebellar ataxia (SCA)
Types 1, 2, 3, 6, 7 & 17

3

Stickler syndrome

2, 4

Thyroid hormone resistance (THR)

1, 2

Tuberous sclerosis (TSC)

1, 2

Uromodulin nephropathy (MCKD2/FJHN)

1, 2

Von Hippel-Lindau syndrome

1, 2

Confirmation of mutation found on a research basis

Other family members

8 weeks

Index case

2