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  • Symbols and abbreviations

    cross reference

  • Symbols and abbreviations


  • Symbols and abbreviations


  • Symbols and abbreviations


  • 3C

    craniocerebellocardiac (dysplasia)

  • ABI

    Association of British Insurers

  • AC

    abdominal circumference

  • AC2

    Amsterdam criteria 2 (diagnosis of HNPCC)

  • ACE

    angiotensin-converting enzyme

  • ACMG

    American College of Medical Genetics

  • ACTH

    adrenocorticotrophic hormone

  • AD

    autosomal dominant

  • ADO

    allele drop-out


    autosomal dominant polycystic kidney disease (adult PKD)

  • ADRP

    autosomal dominant retinitis pigmentosa

  • AFAP

    attenuated familial adenomatous polyposis

  • AFP


  • AFO

    ankle–foot orthosis

  • AID

    artificial insemination by donor

  • AIDS

    acquired immune deficiency syndrome

  • ALT

    alanine transaminase

  • AML


  • APC

    activated protein C


    autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy

  • APOE

    apolipoprotein E

  • APTT

    activated partial thromboplastin time

  • AR

    autosomal recessive

  • ARC

    Antenatal Results and Choices

  • ARH

    autosomal recessive hypercholesterolaemia

  • ARND

    alcohol-related neurodevelopmental disorder


    autosomal recessive polycystic kidney disease (infantile PKD)

  • ART

    assisted reproductive technology

  • ARVC

    arrythmogenic right ventricular cardiomyopathy

  • ARVD

    arrythmogenic right ventricular dysplasia

  • ankylosing spondylitis


    Association for Spina Bifida and Hydrocephalus

  • ASD

    atrial septal defect

  • ASHG

    American Society of Human Genetics

  • AST

    aspartate transaminase

  • AZF

    azoospermia factor

  • BAAF

    British Association for Adoption and Fostering

  • BAV

    bicuspid aortic valve

  • BAPP

    β‎-amyloid precursor protein

  • BBS

    Bardet–Biedl syndrome

  • BMD

    Becker muscular dystrophy

  • BMI

    body mass index

  • BMT

    bone marrow transplantation

  • BOR

    branchio-oto-renal (syndrome)

  • bp

    base pair

  • BP

    blood pressure

  • BPD

    biparietal diameter

  • BPES

    blepharophimosis–ptosis–epicanthus inversus syndrome

  • BPNH

    bilateral periventricular nodular heterotopia

  • BRCA

    breast cancer (gene)

  • BSHG

    British Society for Human Genetics

  • BSO

    bilateral salpingo-oophorectomy

  • BWS

    Beckwith–Wiedemann syndrome

  • CA125

    cancer antigen 125


    cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

  • CAH

    congenital adrenal hyperplasia

  • CAIS

    complete androgen insensitivity syndrome

  • CAL

    café au lait (spot)

  • CAUV

    congenital absence of the uterus and vagina


    congenital bilateral absence of the vas deferens

  • CCAM

    congenital cystic adenomatoid malformation

  • CD

    coeliac disease

  • CDH

    congenital dislocation of the hip

  • cDNA

    coding DNA

  • CDP

    chondrodysplasia punctata


    contrast-enhanced magnetic resonance imaging

  • CF

    cystic fibrosis

  • CFC

    cardiofaciocutaneous syndrome

  • cffDNA/RNA

    cell-free fetal DNA/RNA

  • CFTR

    cystic fibrosis transmembrane conductance regulator (gene)

  • comparative genomic hybridization

  • CGRP

    calcitonin-gene related peptide

  • CHD

    congenital heart disease


    congenital hypertrophy of the retinal pigment epithelium

  • CHT

    congenital hypothyroidism

  • CI

    confidence interval

  • CJD

    Creutzfeldt–Jakob disease

  • CK

    creatine kinase

  • CLDT

    Community Learning Disability Team

  • CLE

    congenital lobar emphysema

  • CL/P

    cleft lip/palate

  • cM


  • CML

    chronic myelogenous leukaemia

  • CMT

    Charcot–Marie–Tooth (disease)

  • CMMR-D

    constitutional mismatch-repair deficiency syndrome

  • CMV


  • CNS

    central nervous system

  • COCH

    coagulation factor C homologue

  • COX-2

    cyclooxygenase 2

  • CPN

    community psychiatric nurse

  • CPVT

    catecholaminergic polymorphic ventricular tachycardia

  • CRC

    colorectal cancer

  • CRL

    crown–rump length

  • CRS

    congenital rubella syndrome

  • CSF

    cerebrospinal fluid

  • CT

    computerized tomography

  • CVD

    cerebrovascular disease

  • CVS

    chorionic villus sampling

  • CXR

    chest X-ray

  • DCM

    dilated cardiomyopathy


    1-deamino-8-D-arginine vasopressin

  • dNTP


  • ddNTP


  • DH

    Department of Health (UK)


    diabetes insipidus–diabetes mellitus– optic atrophy–deafness (syndrome)

  • DLA

    disablility living allowance

  • DM

    diabetes mellitus

  • DMD

    Duchenne muscular dystrophy

  • DMSA

    dimercaptosuccinic acid

  • DNA

    deoxyribonucleic acid

  • do once and share

  • DR

    detection rate

  • DRD

    dopa-responsive dystonia

  • DRE

    digital rectal examination

  • DSS

    Department of Social Security (UK)

  • DWP

    Department of Work and Pensions (UK)

  • DVLA

    Driver and Vehicle Licensing Agency (UK)

  • DWM

    Dandy–Walker malformation

  • DXA

    dual-energy X-ray absorptiometry

  • DZ

    dizygotic (twin)

  • ECG


  • EDS

    Ehlers–Danlos syndrome

  • EDTA


  • EEG


  • EMA

    endomysial antibodies

  • ENT

    ear, nose, and throat


    European Teratology Information Services

  • EPL

    early pregnancy loss

  • ERG


  • ESRF

    end-stage renal failure

  • EUA

    examination under anaesthesia

  • FACS

    fetal anticonvulsant syndrome

  • FAP

    familal adenomatous polyposis

  • FAS

    fetal alcohol syndrome

  • FBC

    full blood count

  • FBS

    fetal blood sampling

  • FDB

    familial defective apoB-100

  • FDR

    First-degree relative

  • Fe


  • FEV1

    forced expiratory volume in 1 second

  • ffDNA

    free fetal DNA

  • FGF

    fibroblast growth factor

  • FH

    familial hypercholesterolaemia

  • FHSA

    Family Health Services Authority

  • FISH

    fluorescent in situ hybridization


    fluid-attenuated inversion recovery (sequence in MRI)

  • FMRP

    FMR protein

  • FMTC

    familial medullary thyroid cancer

  • FOB

    faecal occult blood

  • FOQ

    family origin questionnaire

  • FRAX

    fragile X (syndrome)

  • variant of fragile X syndrome


    variant of Fragile X syndrome

  • FRDA

    Friedreich’s ataxia

  • FSH

    follicle-stimulating hormone


    fragile X tremor ataxia syndrome

  • G6PD

    glucose-6-phosphate dehydrogenase (deficiency)

  • GAD

    glutamic acid decarboxylase

  • GAG


  • GAIC

    Genetics and Insurance Committee

  • GAP

    GTPase-activating protein

  • GC

    genetic counsellor

  • GEFS(+)

    generalized epilepsy with febrile seizures


    Gastroschisis, Exomphalos, Extrophies Parents’ Support Group

  • GH

    growth hormone

  • GIG

    Genetic Interest Group

  • GMC

    General Medical Council (UK)

  • GnRH

    gonadotrophin-releasing hormone

  • GPSI

    General Practitioner with a Special Interest

  • GTT

    glucose tolerance test

  • Hb

    haemoglobin (HbA, HbH, HbF, etc.)

  • HbA1c

    glycated haemoglobin

  • HC

    head circumference

  • hCG

    human chorionic gonadotrophin

  • HCM

    hypertrophic cardiomyopathy

  • HD

    Huntington disease

  • HDGC

    hereditary diffuse gastric cancer

  • HDL

    high-density lipoprotein

  • HDN

    haemolytic disease of the newborn

  • Hep B/C

    hepatitis B/C

  • HFEA

    Human Fertilization and Embryology Authority (UK)

  • HGC

    Human Genetics Commission

  • HGAC

    Human Genetics Advisory Committee

  • HH

    hereditary haemochromatosis

  • HIV

    human immunodeficiency virus

  • HJV


  • HLA

    human leucocyte antigen

  • HLH

    hypoplastic left heart

  • HLHS

    hypoplastic left heart syndrome

  • HMG-CoA

    hydroxymethylglutaryl coenzyme A

  • HMPS

    hereditary mixed polyposis syndrome

  • hereditary motor sensory neuropathy

  • HNF-1β‎

    hepatocyte nuclear factor-1β‎


    hereditary non-polyposis colorectal cancer

  • HNPP

    hereditary neuropathy with liability to pressure palsies

  • HOCM

    hypertrophic obstructive cardiomyopathy

  • HPA

    human platelet antigen

  • HPE


  • HPFH

    hereditary persistence of fetal haemoglobin

  • HPJT

    hyperparathyroidism, jaw tumour (syndrome)

  • HPLC

    high-performance liquid chromatography

  • HR

    hazard ratio

  • HRC

    HNPCC-related cancer

  • HRT

    hormone replacement therapy

  • HSMN

    Hereditary Motor and Sensory Neuropathy

  • HSP

    hereditary spastic paraplegia

  • HV

    health visitor

  • IAM

    internal auditory meatus

  • ICA

    intracranial aneurysm

  • ICD

    implantable cardioverter defibrillator

  • ICSI

    intracytoplasmic sperm injection

  • IDDM

    insulin-dependent diabetes mellitus

  • IDMs

    infants of diabetic mothers

  • IgA

    immunoglobulin A

  • IgG

    immunoglobulin G

  • IgM

    immunoglobulin M

  • IHC


  • IHD

    ischaemic heart disease

  • IL-1


  • IM


  • INR

    International normalized ratio

  • IOP

    intra-ocular pressure

  • IP

    interphalangeal (joints)

  • IQ

    intelligence quotient

  • IRT

    immunoreactive trypsinogen

  • IUD

    intrauterine (fetal) death

  • IUGR

    intrauterine growth retardation

  • IV


  • IVF

    in vitro fertilization

  • JPS

    juvenile polyposis

  • JVP

    jugular venous pressure

  • kb


  • Kallmann syndrome

  • LAM


  • LD

    Learning Disability

  • LDL

    low-density lipoprotein

  • LDP

    Local Delivery Plan


    (syndrome comprising) lentigines–ECG abnormalities–ocular hypertelorism–pulmonary stenosis–abnormal genitalia–retardation of growth–deafness

  • LFT

    liver function test

  • LH

    luteinizing hormone

  • LHON

    Leber hereditary optic neuropathy

  • LOD

    logarithm of the odds ratio (score)

  • LOF

    loss of function

  • LSCS

    lower segment Caesarean section

  • LV

    left ventricle/left ventricular

  • LVH

    left ventricular hypertrophy

  • Mb



    medium-chain acyl-CoA dehydrogenase deficiency

  • MCDK

    multicystic dysplastic kidney

  • MCH

    mean corpuscular haemoglobin

  • MCP

    metacarpophalangeal (joint)

  • MCUG

    micturating cysturethrogram

  • MCV

    mean corpuscular volume

  • MD

    myotonic dystrophy

  • MDT

    multidisciplinary team


    mitochondrial myopathy–encephalopathy–lactic acidosis–stroke-like episodes

  • MEN

    multiple endocrine neoplasia (MEN1 and MEN2)

  • MFS

    Marfan syndrome

  • MH

    malignant hyperthermia

  • MHC

    major histocompatibility complex

  • MLPA

    multiplex ligation-dependent probe amplification

  • MMIH

    megacystis–microcolon–intestinal hypoperistalsis (syndrome)

  • MMR

    measles, mumps, rubella (vaccine)

  • MMRep

    mismatch-repair (genes)

  • MMSE

    Mini-Mental State Examination

  • MODY

    maturity-onset diabetes of the young

  • MoM

    multiple of the median


    malignant peripheral nerve sheath tumour

  • MPS

    mucopolysaccharide (disorders)

  • MRA

    magnetic resonance angiography

  • magnetic resonance imaging

  • mRNA

    messenger RNA

  • MSI

    microsatellite instability

  • MSU

    mid-stream urine specimen

  • mSv


  • MTC

    medullary thyroid carcinoma

  • mtDNA

    mitochondrial DNA


    5,10-methylenetetrahydrofolate reductase (gene)


    Müllerian duct anomalies–renal aplasia–cervicothoracic somite dysplasia (Klippel–Feil anomaly)

  • MVP

    mitral valve prolapse

  • MZ

    monozygotic (twin)

  • NAIT

    neonatal alloimmune thrombocytopenia

  • NAS

    National Autistic Society

  • NBS

    National Blood Service

  • NCV

    nerve conduction velocity (test)

  • NF

    neurofibromatosis (NF1 and NF2)


    National Genetics Education and Development Centre

  • NHL

    non-Hodgkin’s lymphoma

  • NHS

    National Health Service

  • NHSP

    newborn hearing screening programme (UK)

  • NICE

    National Institute of Clinical Excellence (UK)


    non-insulin-dependent diabetes mellitus

  • NOR

    nucleolar organizing region

  • NOS

    National Osteoporosis Society (UK)

  • NS

    Noonan syndrome

  • NSAIDs

    non-steroidal anti-inflammatory drugs


    National Society for phenylketonuria

  • NT

    nuchal translucency

  • NTD

    neural tube defect

  • NTIS

    UK National Teratology Information Service

  • OCP

    oral contraceptive pill

  • OEIS

    (combination of) omphalocele–exstrophy of the cloaca–imperforate anus–spinal defects

  • OFC

    occipital–frontal circumference

  • OFD

    oral–facial–digital (syndrome; OFD1, OFD2, etc.)

  • O&G

    obstetrics and gynaecology

  • OGD


  • OHSS

    ovarian hyperstimulation syndrome

  • OI

    osteogenesis imperfecta

  • OMIM

    Online Mendelian Inheritance in Man (database)

  • odds ratio

  • ORL


  • OTC

    over the counter medicines

  • OTIS

    Organization of Teratology Information Services (US)

  • PAPP-A

    pregnancy-associated plasma protein A

  • PAR

    pseudoautosomal region

  • PCGS

    Primary Care Genetics Society

  • PCR

    polymerase chain reaction

  • PCP

    primary care practitioner

  • PCT

    Primary Care Trust (UK)

  • PDA

    patent ductus arteriosus

  • PDSA

    Platelet Disorder Support Association


    Professional Education for Genetic Assessment and Screening

  • PESA

    percutaneous epididymal sperm aspiration

  • PET


  • PGD

    pre-implantation genetic diagnosis

  • PGH

    pre-implantation genetic haplotyping

  • PGS

    pre-implantation genetic screening

  • PHQ

    Patient Health Questionnaire

  • PJS

    Peutz–Jeghers syndrome

  • PKU


  • PMA

    Personal Medical Attendant

  • PNET

    primitive neuroectodermal tumour

  • POAG

    primary open-angle glaucoma

  • POC

    product of conception

  • POF

    premature ovarian failure

  • PPH

    postpartum haemorrhage

  • PRS

    Pierre–Robin sequence

  • PSA

    prostate-specific antigen

  • PT

    prothrombin time

  • PUBS

    periumbilical blood sampling

  • PUJ

    pelvi-ureteral junction

  • PUV

    posterior urethral valve

  • PVNH

    periventricular nodular heterotopia


    quantitative fluorescence polymerase chain reaction

  • QoF

    Quality and outcomes Framework (UK)

  • QTc

    QT interval corrected for heart rate

  • RB


  • RCAD

    renal cysts and diabetes

  • RCGP

    Royal College of General Practitioners (UK)

  • RCOG

    Royal College of Obstetricians and Gynaecologists (UK)

  • requirements for accreditation

  • RFT

    renal function test

  • RhD

    rhesus D

  • RNA

    ribonucleic acid

  • RP

    retinitis pigmentosa

  • RR

    relative risk (or risk ratio)

  • SAH

    subarachnoid haemorrhage

  • SBE

    subacute bacterial endocarditis

  • SCA

    spinocerebellar ataxia

  • SCD

    sudden cardiac death

  • SD

    standard deviation

  • SDR

    second-degree relative

  • SEGA

    subependymal giant cell astrocytoma

  • SEN

    subependymal nodule


    Special Educational Needs Co-ordinator


    selective oestrogen receptor modulators

  • SGB

    Simpson–Golabi–Behmel (syndrome)

  • SLE

    systemic lupus erythematosus

  • SLO

    Smith–Lemli–Opitz (syndrome)

  • SMA

    spinal muscular atrophy


    Systematized Nomenclature of Medical Clinical Terms

  • SNP

    single-nucleotide polymorphism

  • SpR

    Specialist Registrar

  • SPR

    screen positive rate

  • SSD

    Social Service Department

  • STS

    steroid sulphatase

  • SUD

    sudden unexplained death


    sudden unexplained death in epilepsy

  • T1D

    type 1 diabetes

  • T2D

    type 2 diabetes

  • TA



    Twins and Multiple Births Association

  • TC


  • TD

    thanatophoric dysplasia

  • TEV

    talipes equinovarus

  • TFT

    thyroid function test

  • TGA

    transposition of the great arteries

  • TIA

    transient ischaemic attack

  • TNF

    tumour necrosis factor

  • TOP

    termination of pregnancy

  • (screen for) toxoplasmosis–other (including syphilis, varicella zoster, parvovirus)–rubella–cytomegalovirus–herpes simplex virus

  • TRAP

    twin reverse arterial perfusion sequence

  • tRNA

    transfer RNA

  • TRUS

    transrectal ultrasound

  • TS

    Turner syndrome

  • TSC

    tuberous sclerosis

  • UBOs

    unidentified bright objects (in MRI scan)

  • uE3

    unconjugated oestriol


    UK Familial Ovarian Cancer Screening Study


    UK Haemophilia Centre Doctor’s Organization

  • USS

    ultrasound scan

  • UTI

    urinary tract infection


    (combination of) vertebral defects–anal atresia–cardiac anomalies–tracheo-oesophageal fistula–(o)esophageal atresia–renal anomalies–limb defects


    (combination of) vertebral defects–anal atresia–tracheo-oesophageal fistula–(o)esophageal atresia–renal anomalies

  • VHL

    von Hippel–Lindau (disease)

  • VMA

    vanillylmandelic acid

  • VSD

    ventricular septal defect

  • VTE

    venous thromboembolism

  • VUR

    vesico-ureteral reflux

  • VWD

    Von Willebrand disease

  • VWF: Ag

    Von Willebrand factor antigen

  • VWF: RiCof

    ristocetin cofactor of Von Willebrand factor

  • VZV

    varicella zoster virus

  • WHO

    World Health Organization

  • WWS

    Walker–Warburg syndrome

  • X-HMSN

    X-linked hereditary motor and sensory neuropathies

  • Xic

    X-chromosome inactivation centre

  • XL

    X-linked (inheritance)

  • XLD

    X-linked dominant

  • XLI

    X-linked ichthyosis

  • XLR

    X-linked recessive

  • XLRP

    X-linked retinitis pigmentosa

  • ZIG

    zoster immune globulin