Services Available
We offer a wide range of diagnostic services. Please use the
Service Profiles search facility on the right to
locate the information you require. You may search for any
appropriate term: the name (or part of a name) of a particular
condition such as 'Angelman', an abbreviation such as
'AS', a gene or enzyme name, an OMIM code, or a class of
disorders such as 'delayed development'. Specific services
available include:
- Achondroplasia / Hypochondroplasia
- AD-Multiple Epiphyseal Dysplasia
- Angelman Syndrome
- Atypical Neurofibromatosis Type I
- Autosomal Dominant Retinitis Pigmentosa (ADRP)
- Cardio-Facio-Cutaneous (CFC) Syndrome
- Catecholaminergic Polymorphic Ventricular Tachycardia
(CPVT1)
- Congenital Adrenal Hyperplasia
- Costello Syndrome
- Cystic Fibrosis
- Cystic Fibrosis (Rare)
- Doyne Honeycomb Retinal Dystrophy (DHRD) Mutation Analysis
- Duchenne and Becker Muscular Dystrophy
- Familial Breast Cancer
- Fragile X Syndrome
- Gastro-Intestinal Stromal Tumours (GISTs)
- Hereditary Non-Polyposis Colon Cancer (HNPCC)
- Huntington Disease
- KRAS Mutation Testing in Colorectal Cancer Samples
- Late Onset Retinal Dystrophy (LORD)
- Lowe Syndrome
- Macular Dystrophy
- Neurofibromatosis Type 2 (NF2)
- Non-Invasive Fetal Sex Determination
- Norrie Disease
- Prader Willi Syndrome
- Pseudoachondroplasia
- Rare Disease Service
- Retinoblastoma
- Schwannomatosis; Atypical Familial Rhabdoid Tumour (INI1,
SMARCB1)
- Shwachman-Diamond Syndrome
- Sorsby Fundus Dystrophy (SFD)
- Steroid Resistant Nephrotic Syndrome (SRNS)
- X-Linked Hydrocephalus
- X-Linked Retinitis Pigmentosa
See our referral guidelines for information
on how to submit samples for testing.